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If you are one of the listeners that tune into DNA Today every week, then you definitely know by now we have launched our Patreon. This is where you can not only get bonus content from DNA Today, you can get early access to episodes before the public. You also get to influence the content of the show, this includes episode topics and guests plus pitching questions I ask during interviews, and of course I will give you a shoutout when I ask your question. Oh and if you sign up by May 25th you get a bonus physical gift! For these benefits and more you can visit our Patreon, link is in the show notes and on our website DNAToday.com.
We are continuing our peek into the past! Last episode we explored the history of the genetic counseling field with Michelle Fox and Debra Collins who shared about the first annual National Society of Genetic Counselors (NSGC) conferences. In this episode we are learning about the formation of the American Board of Genetic Counseling (aka ABGC) with Ann Walker and Ed Kloza.
Ann Platt Walker, MA, LCGC has held many leadership positions including the Founding President and Director of the American Board of Genetic Counseling (ABGC), President of the National Society of Genetic Counselors (NSGC) in 1982, and has been on the Board of Directors for the American Board of Medical Genetics (ABMG), American Society of Human Genetics (ASHG), and the American Council for Genetic Counseling (ACGC). During Ann’s career she held roles at the University of California, Irvine Medical Center including as the program director for the Master’s of Science in Genetic Counseling Program for over two decades. She has authored over 20 peer reviewed publications, 10 book chapters, and countless abstracts and presentations. Ann has been awarded many times through her impressive career including the Natalie Weissberger Paul National Achievement and Leadership Awards from NSGC.
Ed Kloza, MS, LCGC was the first genetic counselor in Maine. He helped establish clinical genetics in Southern Maine and pioneered prenatal serum screening at the Foundation for Blood Research in Scarborough, and was a member of the team from Women & Infants Hospital of Rhode Island which published the first international clinical validation study of cell-free DNA screening. He was key in the development of the genetic counseling profession including as a past president of NSGC (the first, and one of only two males elected to that position), and in helping create the American Board of Genetic Counseling (which we are focusing on today). In 2000, Ed was honored with the Natalie Weissberger Paul National Achievement Award. Currently Ed is the genetics education consultant for the New England Regional Genetics Network (NERGN) and is an adjunct Professor at Bay Path University with their graduate Genetic Counseling program.
On This Episode We Discuss:
The ABGC versus the NSGC and which came first!
The early days of board exams
What prompted the creation of the ABGC in 1992
Challenges in forming ABGC
The original goals of ABGC as an organization
The first ABGC president and other key players
When ABGC began to accredit genetic counseling programs
Establishing practice-based competencies
If you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field.
You can learn more about ABGC by heading to their website, or by following them on Twitter, Facebook, and LinkedIn.
Stay tuned for the next new episode of DNA Today on May 12th, 2023, where we’ll be discussing risk assessment advances for Alzheimer’s disease! New episodes are released every Fridays. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)
As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)
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Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania!
Check out DNA Today Episode #101, Genetic Counseling Match Day, to prepare you to start grad school. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.
In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their study guide and flashcards featuring the top 100 genetic conditions to know. Enter on Instagram, Twitter, and LinkedIn before May 2nd! You can even enter on all three to increase your chances of winning.
Fun Fact: The flashcards were co-created by Ashlyn Enokian, MS, CGC, who designed our DNA Today logo! She is also a genetic counselor featured on DNA Today Episodes 101, 111, 135, and 212.
Can’t wait to see if you won? Use the code “DNATODAY” for a discount in the GC Genius Etsy store through May 31st, 2023.
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We are going back in time in this episode of DNA Today to explore the history of the genetic counseling field. In part 1 of this 2-part series, we are focusing on the first annual conference for the National Society of Genetic Counselors which was in 1981, 54 years ago! Joining me are two rockstars in the field of GC, Michelle Fox and Debra Collins!
Michelle Fox, MS, CGC, is an Adjunct Associate Professor of Pediatrics at UCLA. For over 30 years, Michelle coordinated the UCLA Genetics Clinic, providing genetic counseling services to both pediatric and adult populations, including the UCLA Predictive Huntington Disease Testing Program, early onset Alzheimer and genetic neurodegenerative disorders. She is also a faculty member of the UCLA Genetic Counseling Program. Michelle served on the Secretary’s Advisory Committee for Heritable Disorders of Newborns and Children Follow-up and Treatment sub-committee and on the National Society of Genetic Counselors Public Policy Newborn Screening Task Force in 2014. She was a member of the Western States Regional Genetics Network from 2010-2013. Michelle served on the American College of Medical Genetics and Genomics Hearing Loss Guidelines Committee (2013), the American Board of Genetic Counseling Engagement Task Force (2016) and the National Society of Genetic Counselors Conflict of Interest Task Force (2017-2018). She currently serves on the Mt. Sinai Medical Center Genetic Counseling Program Advisory Board, UCLA Genetic Counseling Program Advisory Board and was a member at large of the National Society of Genetic Counselors board of directors (2019-2020). Michelle was awarded the Natalie Weissberger Paul Lifetime Achievement Award 2022 recognizing her contributions to the field of genetic counseling!
Debra Collins, M.S., CGC, has been a genetic counselor at University of Kansas Medical Center for four decades. She has been working there as a genetic counselor for about four decades and her current roles include being a hereditary cancer genetic counselor, with special expertise in von Hippel-Lindau syndrome, and advisor to the genetics and neoplasia medical school curricula.. She has been an active member of the NSGC, including being a past President, serving on the Board of Directors, the Professional Status Committee and currently in the Cancer Genetics Special Interest Group. In 2006, she was awarded the Jane Engelberg Memorial Fellowship Special Award for an online course on grant writing for genetic counselors. Collins also had leadership roles in organizations such as the American Society of Human Genetics, The American Board of Genetic Counseling, and many family support / advocacy groups. Debra graduated from Sarah Lawrence College, the first genetic counseling program, with her Master’s Degree in Human Genetics. She has enjoyed working as a genetic counselor every day: providing education, advocating, counseling, translating complex information, and making a difference in the lives of patients and families.
On This Episode We Discuss:
Why it’s important to understand the history of the genetic counseling field
Why the year 1969 is an important one for the profession
The first annual education (NSGC) conference
The role of the March of Dimes
The number of people who attended the first conference
The next few annual education conferences
What has changed since then
NSGC conferences today
If you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field. Stay tuned for part 2 of this series with Ed Kloza and Ann Walker where we will focus on the Formation of the American Board of Genetic Counseling (ABGC).
You can learn more about the past, present, and future of NSGC conferences here!
Stay tuned for the next new episode of DNA Today on May 5th, 2023 where we’ll be continuing this history of genetic counseling discussion by chatting about the formation of the ABGC with Ed Kloza and Ann Walker. New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)
Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine!
By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Limited spots are available for the summer cohort starting June 5th, 2023. Click here for more information. (Sponsored)
As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)
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We are officially launching our Patreon next week on DNA Day, April 25th! To celebrate the 70th anniversary of the discovery of the structure of DNA and 20th anniversary of the completion of the human genome. By becoming a Patreon supporter you can receive benefits like joining our exclusive genetics book/movie club, mentorship sessions with me, even being on an episode of DNA Today! If you sign up as a Patreon supporter in the next month (by May 25th) we will throw in an extra physical gift, a piece of DNA Today merch. We launch on DNA Day (April 25th) so you can celebrate our genetics holiday by becoming one of our first patrons then!
As a prenatal genetic counselor, our host, Kira Dineen, is very intrigued to learn all about the new advances in non-invasive prenatal screening or NIPS. To see what’s new in at-home NIPS we are joined by experts from Juno Diagnostics (JunoDx), Katie Sagaser and Allison Rodgers!
Katie Sagaser is the Director of Genetic Counseling at Juno Diagnostics. Katie’s team provides telehealth, prenatal genetic counseling services for patients undergoing Juno’s Hazel™ Non-Invasive Prenatal Screen – the first at-home, capillary-based NIPS for fetal aneuploidy. Prior to joining JunoDx, Katie was an assistant professor of Gynecology & Obstetrics in the Division of Maternal Fetal Medicine at the Johns Hopkins University School of Medicine. Katie’s professional interests center on equitable access to genetic testing and access to comprehensive reproductive health care throughout the lifespan. Most recently, she was the lead author on NSGC’s Practice Guidelines for Expanded (Equitable) Carrier Screening. A member of both the Society for Maternal Fetal Medicine Reproductive Health Advisory Group and NSGC's Public Policy Committee, Katie is also actively engaged in public policy work surrounding reproductive health and genetics. At Juno, Katie is passionate about using social and digital media to scale access to high-quality information on genetics and reproductive medicine.
Dr. Allison Rodgers is a double board-certified OB-GYN and fertility doctor. She is currently the Director of Education at Fertility Centers of Illinois, a US Fertility Practice; additionally, she serves on the Clinical Advisory Board for Juno Diagnostics. Dr. Rodgers' personal experiences with secondary infertility and pregnancy loss inform her unique insights into reproductive medicine, contributing to compassionate and individualized patient care. She is published in top medical journals covering endometriosis, tubal factor infertility, in vitro fertilization, and donor sperm. Her special interests include in-vitro fertilization, endometriosis, polycystic ovarian syndrome, unexplained infertility, recurrent pregnancy loss, premature ovarian insufficiency, LGTBQIA+ fertility, reciprocal IVF, and transgender fertility. She completed her residency at Case Western Reserve-Metrohealth Medical Center Cleveland Clinic, followed by a fellowship at the University of Texas Health Science Center in San Antonio. You may recognize Dr. Rodgers from Tik Tok and Instagram where she shares fertility education with more than 1.3 million followers!
On This Episode We Discuss:
The inspiration behind JunoDx and their goal/mission
What drew Katie and Allison to JunoDx
How JunoDx’s technology/approach differs from other companies to successfully perform NIPS on a much smaller sample volume
How does Juno’s at-home approach to sample collection for NIPS increases accessibility, particularly those in underserved or remote areas
The difference between JunoDx’s 2 NIPS, Hazel and Birch
Determining sex of the baby with Birch NIPS
Conditions included in the more comprehensive Hazel screening
The process of ordering Hazel or Birch NIPS, collecting the sample, to learning the results
The positive predictive value and negative predictive values of the tests, what these values mean, and how they compare to other NIPS and other at-home NIPS
The evolution and future of at-home NIPS tests, particularly related to advancements in technology and genetic testing
To learn more about Juno Dx, visit their website and Youtube and Pinterest pages. You can also follow Juno Dx on Twitter, Facebook, Instagram and TikTok. And be sure to follow Dr. Rodgers on Tik Tok and Instagram, and Katie Sagaser on Twitter and Instagram!
Further Reading:
Capillary blood collection: exploring a new method to promote noninvasive prenatal screening access
"An exploration of methods to enable equitable access to non-invasive prenatal screening"
"Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing"
"Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma"
"Women In Wellness: Katie Sagaser of JunoDx On The Five Lifestyle Tweaks That Will Help Support People’s Journey Towards Better Wellbeing"
Stay tuned for the next new episode of DNA Today on April 28th, 2023, where we’ll be going back in time to explore the history of the genetic counseling field. We are focusing on the first annual conference for genetic counselors which was in 1981, 54 years ago! Joining us for this conversation are two rockstars in the field of GC, Debra Collins & Michelle Fox! New episodes are released every Friday. In the meantime, you can binge over 230 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine!
By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Limited spots are available for the summer cohort starting June 5th, 2023. Click here for more information. (Sponsored)
Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)
As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored) -
We are thrilled to be launching our Patreon very soon. It might be on a genetics holiday, I’ll let you figure that one out. In the meantime we would appreciate your insight on what you want from the Patreon. It’s your last chance to fill out our survey so that we will offer the benefits you want. You can access the 60 second survey here. Maybe you really want DNA Today merch or would love to have one on one mentorship with me. Maybe you have your own idea! Whatever your thoughts are, get them in by April 21st, 2023! Thanks for helping to develop our Patreon.
On this episode, genetic counselor and entrepreneur, Matt Tschirgi, shares insights he has learned from running his own company and a survey he sent out to fellow entrepreneurs in the field.
My guest today is a fellow genetic counselor entrepreneur, Matt Tschirgi! Matt (he/him) performs contract work through his company, Genetix Consulting, LLC, in addition to being employed at a commercial lab. He has more than 15 years of combined experience in clinical and industry genetic counseling. Matt’s professional interests include prenatal genetics; academic and industry partnerships; and professional issues such as continuing education, multi-state licensure, and incorporating genetic counseling assistants in both clinical and industry settings. He earned his BS degree from Washington State University, and his MS in genetic counseling from University of Texas Health Science Center at Houston.
Last year, Matt put a call out on Twitter and LinkedIn to fellow genetic counselors who are entrepreneurs to share their experiences for a student lecture he was putting together. This call generated a lot of interest and tons of responses, many of which we’ll be discussing in this episode!
On this episode we discuss:
The origin of LLC Genetix Consulting and the services they offer
Genetic counseling skills that are transferable to being an entrepreneur
Charging as an entrepreneur in genetics (fee ranges and payment models)
Types of services that people provide (i.e., medical writing and editing, project management, variant curation, career/life/personality coaching, and more!)
Challenges that people have faced
What people love most about their businesses
Advice on getting your business started!
If you’re interested in learning more about entrepreneurship and consulting in genetic counseling, we highly encourage you to follow Matt on Twitter, and check out these slides.
Stay tuned for the next new episode of DNA Today on April 21st, 2023 where we’ll be discussing at-home non-invasive prenatal screening with JunoDx! New episodes are released every Friday. In the meantime, you can binge over 230 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)
As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)
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Have you heard? We are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have an exciting list of ideas on what we will offer you listeners, but we want you to make the final decisions on which benefits we end up offering you. So get your votes in through our survey. It only takes 60 seconds to fill out. Thank you SO much!!
In this episode, we explore the intersection of artificial intelligence (AI) and genetics, focusing on the potential impact of AI policies and regulations on the field. Why do our show notes look different this week? We decided to stay on brand for this episode and use AI (shoutout Podium) to write this content.
We discuss the rise of AI chatbots like ChatGPT and BioGPT and their potential to transform healthcare and the genomics industry by assisting humans in interpreting vast amounts of genetic data. We delve into the importance of using AI-powered tools like ChatGPT to enhance our understanding of genomic data while maintaining privacy, and we discuss The Family Vault, which helps parents maintain ownership and control of their babies' genomic data. We also explore the challenges of implementing AI solutions in the clinical genomics industry, focusing on the importance of data provenance, quality, and privacy. Join us as we examine the future of data management in a hybrid world of centralized and decentralized databases, and learn about the exciting developments in the world of genetics.
Daniel Uribe is the father of a rare disease child. He is an expert in cybersecurity, data laws, non-fungible tokens (NFTs) and genomics. Daniel is the inventor of BioNFTs to tokenize revocable digital rights over human biosamples and derived biodata based on data privacy laws to enable ethical AI training in genomics and healthcare.
Top 10 Keypoints:
AI chatbots like ChatGPT and BioGPT are transforming healthcare and genomics by assisting humans in interpreting vast amounts of genetic data.
AI policies and regulations, such as the AI Bill of Rights, are being proposed to ensure responsible and ethical AI systems in healthcare and genomics.
Data used to train AI must be accurate, properly presented, and free from bias to avoid producing misleading or harmful results.
AI-powered tools like ChatGPT can help individuals explore their genomic data while maintaining privacy and control over their genetic information.
The Family Vault enables parents to maintain ownership and control of their babies' genomic data while collaborating with researchers in federal programs.
Data provenance, quality, and privacy are essential when implementing AI solutions in the clinical genomics industry.
A hybrid world of centralized and decentralized databases is emerging for data management in genomics, with a focus on digital hygiene and controlled access to sensitive genetic information.
Creating sub-datasets and limiting access to relevant data for specific purposes can help maintain control over genetic data while contributing to research and receiving personalized medical care.
Trustable, certified genetic testing is crucial as AI continues to play a larger role in healthcare and genomics.
The future of genetics will involve exciting developments in the understanding and interpretation of DNA data, with AI technologies playing a significant role in augmenting human knowledge and capabilities.
Episode Chapters:
AI in Genetics and Healthcare
The Best of Both Worlds
Centralization vs Decentralization in Digital Data
Exploring the Wonders of DNA
Chapter Summaries:
(0:00:02) - AI in Genetics and Healthcare (16 Minutes)
In this episode, we explore the role of artificial intelligence (AI) in genetics and the potential impact of AI policies and regulations on the field. Our guest, Daniel Uribe, is an expert in cybersecurity, data laws, NFTs, and genomics. He discusses the rise of AI chatbots like ChatGPT and BioGTP and their potential impact on healthcare and the genomics industry. AI has the potential to assist humans in interpreting large amounts of genetic data and augment human knowledge. However, the data used to train AI must be accurate, properly presented, and free from bias.
(0:15:47) - The Best of Both Worlds (10 Minutes)
In this portion of the conversation, we delve into the potential of AI-powered tools such as Chat GPT to enhance the understanding of our genomic data while maintaining privacy, enabling individuals to make informed decisions about their health. The Family Vault is discussed as a means to help parents maintain ownership and control of their babies' genomic data, while still collaborating with researchers in federal programs. The conversation also touches on the importance of decentralized data storage and privacy-preserving technologies for protecting sensitive genetic information from hackers and unauthorized access'
(0:26:03) - Centralization vs Decentralization in Digital Data (6 Minutes)
In this part of the discussion, we examine the future of data management in a hybrid world of centralized and decentralized databases, focusing on the importance of digital hygiene and controlled access to sensitive genetic information. By creating sub-datasets and limiting access to only the relevant data for specific purposes, individuals can maintain control over their genetic data while still contributing to research and receiving personalized medical care. We also touch on the potential implications of genetic data on insurance pricing and the importance of trustable, certified genetic testing as AI continues to play a larger role in the field'
Learn more about Genobank.io here. You can also check out this DNA Exchange article that Kira read in preparation for this interview.
Stay tuned for the next new episode of DNA Today on April 14th, 2023! New episodes are released every Friday. In the meantime, you can binge over 230 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down syndrome or trisomy 21, trisomy 13, and trisomy 18 – in addition to testing for fetal sex. You can order this test yourself, or have your healthcare provider order for you. Head to JunoDx.com and use the code "DNATODAY” for 10% off! Keep your eye out for our full episode interview with experts from Juno Dx including fellow genetic counselor Katie Sagaser and Dr. Allison Rodgers. In the meantime, check out JunoDx.com to learn more about Hazel and their other test Birch (which tests just for the sex of your baby). (Sponsored)
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)
As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)
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As you may have heard, we are launching a Patreon! For those that don’t know what Patreon is, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have a survey that will be open for a limited time so get your input in now so we can provide the benefits you want. Maybe that’s a one-on-one Zoom with me for mentorship or a genetics book/movie club or an appearance on the podcast! Let us know so we can make sure to offer it. Thanks for all your support for the podcast over the years.
My guest today is Dr. Jamie Fettig, the Founder and CEO of TruGene Diagnostics. We are chatting about a breakthrough in eliminating variants of unknown significance - especially in relation to companion diagnostic tests and pharmacogenetics in oncology.
Dr. Jamie Fettig is the Founder and CEO of TruGene Diagnostics, which is eliminating variants of unknown significance - especially in relation to companion diagnostic tests and pharmacogenetics in oncology. He graduated from Palmer University. Dr. Fettig previously worked in private practice and then transitioned into manufacturing and selling medical equipment. He also worked as a coach and trainer to fellow doctors.
On This Episode We Discuss:
Defining variants of unknown significance (VUS), pharmacogenetics and companion diagnostics
What TruGene Diagnostics does
The GiggaAssay
How knowing if a breast cancer is HER2+ can help inform medications that people should be prescribed
VUS in HER2 Tyrosine Kinase Region
What people should do if they get HER2+ cancer or their doctor wants to do a biopsy thinking it might be HER2+
How cancer survival rates are impacted by utilizing precision medicine approaches with drugs
How TruGene Diagnostics’ test differs from other PGx tests or Precision Meds
How pharmacogenomics can increase the efficacy of clinical trials
Check out Dr. Fettig’s papers:
Heligenics: fulfilling the promise of the functional genome to enable precision medicine (March, 2023)
Data Supporting a saturation mutagenesis assay for Tat-driven transcription with the GigaAssay (September 2022)
GigaAssay – a high-throughput assay system for molecular functions and cell processes (July 2021)
Check out DNA Today Episode 134 that Kira mentioned during this episode; it’s with guest Dr. Kat Arney about cancer evolution. You can also stream other episodes about pharmacogenomics including Episode #108 with Becky Winslow, Episode #174 with Gregory Kellog, and last week’s Episode #229 with Avni Santani!
Stay tuned for the next new episode of DNA Today on April 7th, 2023, where we’ll be discussing ChatGPT and AI In Genetics with Daniel Uribe of GenoBank! New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)
Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down syndrome or trisomy 21, trisomy 13, and trisomy 18 – in addition to testing for fetal sex. You can order this test yourself, or have your healthcare provider order for you. Head to JunoDx.com and use the code "DNATODAY” for 10% off! Keep your eye out for our full episode interview with experts from Juno Dx including fellow genetic counselor Katie Sagaser and Dr. Allison Rodgers. In the meantime, check out JunoDx.com to learn more about Hazel and their other test Birch (which tests just for the sex of your baby). (Sponsored)
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We have an exciting announcement, we are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. In order to provide what YOU want, please take 60 seconds to fill out our survey. By filling out the survey not only are you influencing what benefits we will offer, but you will be the first to know when we will launch! Can’t thank you all enough for your listenership over the years, it’s such a privilege to be able to launch a Patreon to engage with you all more.
This week we’re chatting about an emerging area of genetics, pharmacogenomics! Pharmacogenomics (PGx), one of the core elements of personalized medicine, is a field of research that studies how a person’s genes affect how they respond to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person.
Joining us for this conversation is Avni Santani PhD, FACMG, Chief Medical Officer of Veritas Genetics, a LetsGetChecked company, which delivers tailored at-home healthcare solutions to 300+ organizations. Dr. Santani holds a Master’s degree in Medical Molecular Genetics from the University of Aberdeen and a PhD in Genetics from Texas A&M University. She holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics from The Children’s Hospital of Philadelphia (CHOP).
On This Episode We Discuss:
Pharmacogenomics and other similar terms
The state of genetic testing today and how it has changed in the last ten years
Why it is helpful to have pharmacogenomic testing information when figuring out the best drugs to prescribe
Steps of drug metabolism that gene variants can affect
How gene variants can impact the drug response (drug reception, uptake, and breakdown)
If testing can provide information on the dosage of drugs to prescribe and how this varies between people
Types of conditions/diseases where genetic testing results can be applied (behavioral health, cardiovascular health, and pain management)
The role of testing in determining personal risk levels of becoming addicted to pain medications
Genes that LetsGetChecked’s myPGx test analyzes
The frequency at which gene variants found through this testing help narrow down which drug or dose to prescribe
If you want to learn more about pharmacogenomics, head over to the LetsGetChecked website.
Be sure to follow our guest, Avni Santani, on Twitter; LetsGetChecked on Twitter, Facebook, LinkedIn, Instagram, YouTube; and VeritasGenetics on Twitter, Facebook, and Instagram.
Stay tuned for the next new episode of DNA Today on March 31st, 2023, where we’ll be diving deeper into pharmacogenomics (PGx) with James Fettig who will provide an overview of PGx for cancer! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)
Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down syndrome or trisomy 21, trisomy 13, and trisomy 18 – in addition to testing for fetal sex. You can order this test yourself, or have your healthcare provider order for you. Head to JunoDx.com and use the code "DNATODAY” for 10% off! Keep your eye out for our full episode interview with experts from Juno Dx including fellow genetic counselor Katie Sagaser and Dr. Allison Rodgers. In the meantime, check out JunoDx.com to learn more about Hazel and their other test Birch (which tests just for the sex of your baby). (Sponsored)
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Update: One of our recurrent guests genetic counselor and fellow podcaster Laura Hercher had a couple important thoughts after listening to our episode we want to share. Laura has been a guest on Episodes 157 & 191 where she has shared her insight on abortion bans including Texas SB 8 and the overturn of Roe v. Wade.
“I understand the reasons for moving our language away from terms like ‘lethal’ or ‘incompatible with life’, but we are also now faced with multiple states where only a lethal anomaly or condition is considered grounds for a legal abortion (insurance coverage for the abortion may hinge on this as well). And in fact, the language is so strict and the consequences so concerning that many institutions are basically turning down virtually all exceptions. It's a giant mess. So, not saying that it isn't important to tell the truth -- of course! But that term ‘lethality’ may need to remain in the conversation even when survival isn't out of the question.”
Thanks Laura for writing in and adding to our conversation and considerations with the complexities surrounding reproduction.
Our guest today is Divya Ramachandra, who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations.
Divya presented at the National Society of Genetic Counselors’ Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation. She has a strong interest in bioethics and serves on the Pediatrics Ethics Committee as well as the Genetics Ethics Service Line at her institution.
On This Episode We Discuss:
Symptoms of T13/T18
Signs on ultrasound that a pregnancy may have T13/T18
Advice for healthcare providers and GCs on how to approach conversations with people who have a pregnancy with a high chance of T13/18
Decision making parents should review with a healthcare provider (delivery plans, feeding options, etc.)
Moral distress and how to process this with patients
Why we should we shift our conversations from lethal to life-limiting
The term “quality of life”
How the health and survival of people with T13/18 has changed over the years
Most common causes of death for babies with T13/18
Interventions that can alter a baby’s survival
Postnatal care conferences and other resources
The chance to have another pregnancy with T13/18
Stay tuned for the next new episode of DNA Today on March 24th, 2023, where we’ll be discussing pharmacogenomics with Dr. Avni Santani! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)
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In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne.
Dr. Louise Rodino-Klapac is the Executive Vice President, Head of R&D and Chief Scientific Officer at Sarepta Therapeutics who has 15 years of experience researching and studying LGMD. She is renowned for her work in molecular genetics and gene therapy. Her pioneering research is the foundation for five of our investigational limb-girdle muscular dystrophy (LGMD) programs. Hear from Dr. Rodino-Klapac about LGMD, the importance of knowing your subtype and the basics of gene therapy!
Livija Medne is a Senior Genetic Counselor and Systems Director of Genetic Counseling at the Children's Hospital of Philadelphia. She has 15+ years of experience in pediatric neuromuscular diagnoses, including LGMD. She co-chairs and is one of the course directors of the Curriculum Committee at the University of Pennsylvania Genetic Counseling Program. In addition, Livija is an advocate for the professional development of junior genetic counselors, having co-founded the first Genetic Counselor Mentorship committee at CHOP.
On This Episode We Discuss:
Limb-girdle muscular dystrophy (LGMD)
Which muscles are typically are affected first
Symptoms that individuals with LGMD experience and when symptoms usually start
The prevalence of LGMD compared to Duchenne Muscular Dystrophy
How people are diagnosed with LGMD
Why genetic testing is important to determine specific subtypes of LGMD
Gene therapy programs for the most common subtypes
The goal of the gene therapy
When FDA-approval for LGMD gene therapy can be expected
How patients can gain access to the gene therapy program and how health care providers can refer patients
Busting myths about LGMD
If you’d like to take a deeper dive after listening to today’s episode, follow these links to learn more about limb girdle muscular dystrophy, gene therapy, and genetic testing for LGMD. You can also visit raregenomes.org and limbgirdle.com to learn more! And be sure to follow Dr. Louise Rodino-Klapac on Twitter!
You can also check out this installment of the PhenoTips Speaker Series to hear Kira interview Livija Medne about genetic counselors in leadership positions.
Stay tuned for the next new episode of DNA Today on March 10th, 2023! New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored)
1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.
2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.
3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)
I’ve enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)
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Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode!
Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.
If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.
In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.
Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia’s NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children’s Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.
Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.
On This Episode We Discuss:
Symptoms that would warrant immediate genetic testing after birth
Starting with whole genome sequencing (WGS) versus exome
Other tests that are useful for babies in the NICU beyond the genome
How laboratories are maximizing the genome data for babies in a medical crisis
Samples used for urWGS (ultra rapid WGS) and newborn screening
Trio testing with parents to rule out variants of being causative of symptoms
urWGS minimizing healthcare costs
Why timing is so important for babies in the NICU
How results from urWGS can influence treatment plans
How projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening
Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing.
During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184.
Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. You can visit perkinelmergenomics.com for more information. (Sponsored)
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four Sigmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)
I’ve enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)
Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored)
1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.
2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.
3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.
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Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne’s UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne’s Senior Director of Medical Affairs.
Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.
On This Episode We Discuss:
Antigens
Which antigens are screened for in UNITY
Alloimmunization and who is at risk
Why learning fetal antigens is useful during a pregnancy
Prevalence of and risks associated with HDFN
Hemolytic Disease of the Fetus and Newborn
Sensitivity and specificity of UNITY Screen’s NIPT for fetal antigen
The minimum gestational week blood for this test can be collected
How providers can order both the UNITY for recessive conditions and fetal antigen
The average turnaround time for these tests
Learn more about UNITY Screen’s novel fetal antigen NIPT and the genetic conditions and fetal antigens on UNITY Screen NIPT at these links.
To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter.
Stay tuned for the next new episode of DNA Today on March 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 224 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)
Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)
Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)
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In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT!
Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor’s in molecular biology and minors in physics, computer science, and applied mathematics.
Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.
On this episode we discuss:
Noninvasive prenatal testing (NIPT)
What is UNITY Screen and why the name UNITY?
Recessive conditions included in UNITY Screen
Information included in a UNITY NIPT report
Test specificity and sensitivity differences between ethnicities
How typical carrier screening flows work differently with UNITY
Why it is helpful to have information regarding the chance a pregnancy is affected by a recessive condition
BillionToOne’s plans to include more recessive conditions in UNITY Screen
To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter.
Stay tuned for the next new episode of DNA Today on February 24th, 2023 where we continue this NIPT discussion with Jen Hoskovec focusing on screening for antigens. New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)
Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)
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Happy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.
DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 21st installment of the PhenoTips’ Speaker Series, “Building Integrated Workflows for Rare Disease Diagnosis”. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years.
Dr. Orion Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of RareConnect.org. Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind. In addition to his work building interoperable workflows for genomic medicine as Chief Executive Officer of PhenoTips, Dr. Buske remains an active member of the Global Alliance for Genomics and Health (GA4GH) where he co-leads the Pedigree Standards stream of the Clinical & Phenotypic Data Capture working group.
PhenoTips’ Interoperability Specialist Charles Keenan is dedicated to building health technology products that easily share information among systems and providers, helping clinicians realize unprecedented health outcomes in our digital world. While working in genomics and ophthalmology, Charles was inspired to pursue a Master's in Health Informatics from the University of Toronto after experiencing first-hand the frustrations caused by healthcare technology for both patients and providers. Charles holds a BSc in Life Sciences and hopes to realize the future of genomics through leveraging new technology that builds communication between systems.
In this panel discussion, Kira Dineen, Dr. Orion Buske, and Charles Keenan address:
How PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflows
The role of interoperable data in improving diagnostic outcomes
The application of structured pedigree and phenotypic data in diagnosis
Recent rare disease projects across the US, UK, and Canada
The PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes.
Stay tuned for the next new episode of DNA Today on February 17th! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)
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We are kicking off Rare Disease Month by talking about Wilson’s disease, a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an autosomal recessive pattern and left untreated, Wilson’s disease can be fatal. Joining us for this episode is Naseem Amin, the CEO of Orphalan, which develops and commercializes treatments for orphan/rare diseases. In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior.
Naseem Amin (he/him) joined Orphalan in 2017 bringing thirty years of international industry experience in Research and Development, Corporate and Business Development, Venture Capital and Marketing. Naseem previously served as Executive Chairman at Arix Bioscience Plc, listed on the LSE, Venture Partner at Advent Life Sciences, Chief Scientific Officer at Smith and Nephew, where he oversaw corporate R&D, divisional manufacturing, QA/QC and product development functions. Prior to Smith and Nephew, Naseem led the business development functions at both Biogen and Genzyme Therapeutics. For both companies, he initiated and executed a number of transformative acquisitions and transactions.
Naseem has also led the clinical development of five currently marketed therapeutic products. He started his career at Baxter Healthcare where he had executive roles in marketing, product development and clinical research. In addition to his role at Orphalan, Naseem currently serves as a board member and advisor to several not for profit organizations, and a publicly listed biotechnology company listed on the NASDAQ. Naseem is a qualified medical doctor, from the University College Medical School, London and has an MBA from Kellogg Graduate School of Management at Northwestern University.
On This Episode We Discuss:
Differences in metabolism in individuals with Wilson’s disease (WD)
How an accumulation of copper affects the body and body systems that are most affected
How and when WD is diagnosed
Signs that someone may have WD
Pathogenic variants (mutations) that have been identified in the ATP7B gene
The number of people affected by WD
Current/standard treatment recommendations for people with WD and how Cuvrior differs from these treatments
When Cuvrior, now FDA-approved, is officially launching in the US
When it is appropriate for people with WD to start taking Cuvrior
Long-term studies and documented benefits of starting the medication earlier in life
To learn more about Wilson’s disease and find patient information, visit Orphalan's wesbite.
You can also learn more about Cuprior (the name of Cuvrior in Europe with EMA approval) here.
Stay tuned for the next new episode of DNA Today on February 10th! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored) -
In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayley, and UCT-professor, Tina-Marié Wessels. Special thanks to our social media intern, Kajal Patel, for recommending Samantha and Tina for this episode!
Samantha Bayley is currently a second-year student in the MMedSc Genetic Counselling Program at the University of Cape Town. Originally from Johannesburg she moved to the Western Cape for her tertiary education. Samantha completed a BSc in Human Life Sciences with Psychology (2016-2018), BSc Honours in Human Genetics (2019) and MSc in Human Genetics (2020-2021), all at Stellenbosch University. Her honours and masters research focused on a rare condition called Mabry Syndrome, including identifying a novel deleterious variant in the gene PGAP3 and determining this variant to be a likely founder effect in the Xhosa population for Mabry Syndrome. This year Samantha will do a minor dissertation on 'Investigating the Opinions on Telephonic Advanced Maternal Age Genetic Counselling'. She created the @samthegc Instagram page to share her experience as a Genetic Counselling Student and raise awareness for the profession in Africa.
Dr. Tina-Marié Wessels is an associate professor in the genetic counseling program at the University of Cape Town, where she has worked since 2014! Prior to teaching at UTC, Tina worked as a genetic counselor at the National Health Laboratory Service and the University of the Witwatersrand, where she received her MSc(Med) and PhD in genetic counseling.She conducted her PhD in association with the Health Communications Project and examined the communication aspects of the genetic counselling process in an antenatal multicultural context. Tina joined the Division of Human Genetics at UCT IN 2014 as senior lecturer in Genetic Counselling. Together with Prof Jacquie Greenberg, she runs the Masters programme in Genetic Counselling where she is involved in undergrad and postgraduate teaching. In addition to her academic role, she is involved in clinical service and counsels patients from Groote Schuur and Red Cross Children’s Hospital.
On This Episode We Discuss:
Genetic counseling in South Africa
Factors that limit expansion of the genetic counseling field in South Africa
How we can raise awareness in South African healthcare for genetic counselors and their services so that there is an increased amount of referrals
Paying for genetic counseling consults in South Africa
Relationships with patient advocacy organizations
Genetic counseling degree programs in South Africa and how to apply
Sam’s experience as a genetic counseling student (which she shares on her Instagram!)
Job requirements of being a genetic counselor in South Africa
Availability of genetic counseling positions and paid internships
The process to order genetic testing in South Africa
Public sector versus private sector
How they envision the field changing in the next five years
To learn more about genetic counseling in South Africa, check out this blog post from My Gene Counsel which features genetic counselors from South Africa as Trailblazing genetic counselors! You can also follow Sam’s Instagram account @samthegc, to learn more about the day-to-day life of a genetic counseling student in South Africa!
Kira also mentioned a couple other episodes during the recording…
#117 Dr. Janina Jeff (In Those Genes Podcast) on African Genomes
#216 African American Ancestry with Nicka Smith
Shoutout to our Social Media Intern, Kajal Patel, for introducing us to Samantha Bayley and making this episode happen!
Stay tuned for the next new episode of DNA Today on February 3rd, 2023 where we are kicking off our rare disease awareness month celebrations by discussing Wilson’s disease with Naseem Amin of Orphalan! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
We are looking forward to celebrating rare disease awareness month this February on DNA Today. Our first episode will be about Wilson’s disease. The CEO of Orphalan joins the show to provide a major update on treatment for those with the condition. A new FDA approved drug!Mark your calendar for February 3rd, that’s when this episode about Wilson’s disease will drop, it will be Episode #222. Get a head start on learning at orphalan.com. (Sponsored)
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored) -
This week we’re discussing all things microfluidics! Joining us for this discussion is Franz Pruefer. He is the Co-Founder of Maxwerk Bio which has a pipeline of biotech diagnostic and therapeutic devices. Franz is also the Co-Founder of CERTESS Therapeutics an early stage Cell Therapy Company in stealth mode based in Cambridge, Massachusetts.
Under the pharmaceutical division, Maxwerk supplies injectable and solid dose manufacturing machinery, and pharmaceutical engineering and construction. Their customers include domestic and multinational pharmaceutical (Global Fortune 500) companies with production facilities in Mexico, Central America, the Caribbean, and more!
Under the biotech division, Maxwerk’s team of multidisciplinary scientists are working to develop novel and innovative biotechnology products for diagnostic and therapeutic applications. Their team is comprised of talented individuals from biotechnology, synthetic biology, engineering, chemistry, and artificial intelligence. Under Maxwerk Healthcare, they supply medical devices and consumables for hospitals in Mexico, Central America, and the Caribbean
On This Episode We Discuss:
Microfluidics overview
The evolution of microfluidic technology over the last 4 decades
Applications of microfluidics within healthcare
How microfluidic based testing can perform single cell studies
Droplet-based microfluidics
The cost difference between microfluidic based tests and standard tests
How microfluidics offers a unique advantage to patients who live in more remote areas of the world
Applications outside of the healthcare space (space medicine, security at airports, stadiums, etc.)
Upcoming projects at Maxwerk
You can stay up to date with Maxwerk’s projects and Franz by following him on Twitter.
Stay tuned for the next new episode of DNA Today on January 27th, 2023! New episodes are released every Friday. In the meantime, you can binge over 219 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored) -
A new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me.
In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories.
Hope you enjoy this episode and be sure to subscribe to It Happened To Me in your podcast player. We would really appreciate a rating and review as well on Apple and Spotify. This is KEY for a successful launch!
Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her main show, "DNA Today", is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show won the Best and Science and Medicine Podcast Awards for the last three years, among other awards. “DNA Today” has produced over 215 episodes. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing international genetic leaders. Kira produces the Patient Empowerment Program, which is a nano-rare disease podcast. She was selected and served as a member of the National Society of Genetic Counselors’ Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Stamford, CT.
On This Episode We Answer:
When should people consider genetic counseling?
Do you need a referral?
Does insurance pay for genetic testing and counseling?
Is genetic testing done before or after the visit?
How many visits are typically involved for genetic counseling?
What reproductive options do couples have?
How do genetic counselors help people with genetic conditions?
Why are the advantages of having genetic testing?
What have you learned from interviews with patients and rare disease advocates?
Do you recommend joining rare disease advocacy groups? Which ones?
Why study rare diseases?
What is CRISPR? How could this help with treatment of even cures of genetic conditions?
What are nano-rare diseases?
For more information check out the National Organization of Rare Disorders’s Rare Disease Fact sheet.
Stay tuned for the next new episode of DNA Today on January 20th! New episodes are released every Fridays. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)
If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored) -
Happy New Year! Joining us for the first episode of 2023 is Betsy Humphreys, Karen Volle and Karina Mancini, who will share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) and the New England Regional Genetics Network programs, and how they relate to genetics advocacy.
Elizabeth Humphreys is the Director of the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the University of New Hampshire, a graduate leadership training and workforce development program aimed at improving systems of care for children with special health care needs. Since 2010 she has secured nearly 11 million dollars to implement the program in collaboration with the University of Maine UCEDD and Dartmouth Hitchcock Medical Center. She is a Research Assistant Professor of Early Childhood Special Education in the UNH Department of Education. Dr. Humphreys has worked extensively throughout early intervention settings since 1985 in collaboration with public education, Head Start, state partners and childcare programs with a focus on developmental monitoring and screening in infants and toddlers. Dr. Humphreys research integrates two research to practice areas: 1) evaluating the effectiveness and accessibility of evidence-based interventions and services for young children with neurodevelopmental disabilities and their families, and 2) examining leadership frameworks that establish and support cross-systems collaborations for health and early education professionals. She has also co-authored book chapters, as well as numerous peer-reviewed manuscripts and presentations.
Karen Volle has been a Project Director with the Institute on Disability at the University of New Hampshire since February 2008 . Directly before this position Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD. She received her BA in psychology from Coe College
Karina is a LEND trainee, student, genetics professional, and prospective genetic counseling student based in New Hampshire. She completed her undergraduate degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at UConn. After graduation, she worked for two years as a cytogenetic technologist for a diagnostic hospital lab. Karina has a passion for genetics education and advocacy. Currently, she is a student in the NH-ME LEND program working on furthering her experience with the disability community, and hopes to attend a Master’s in Genetic Counseling program in the near future.
In this episode we discuss:
The mission of the LEND Program
How LEND helps people and families affected by neurodevelopmental disabilities
Concepts and skills taught in LEND
Who is eligible to participate in LEND
The LEND student experience
How LEND prepares students for careers in genetic counseling
Universities that offer LEND and how students can get involved
To learn more about LEND and how to get involved, check out their website.
Stay tuned for the next new episode of DNA Today on January 13th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)
I don’t know about you, but I am always looking for the next podcast to add to my queue. When I subscribe to a new one, I like letting you know. If you are thinking about going to grad school or are currently in grad school I recommend checking out my friend David’s podcast, Papa PhD. I am a little biased, he had me as a guest back in May. The episode is titled, “Applying to Grad School in 2022 with Kira Dineen”. If you also speak French, he also does some episodes in French! I’ve enjoyed episodes about science communication, leadership, networking, science policy, public speaking skills, mentorship and more. Search “Papa PhD” in your podcast app to stream!
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Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene.
Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.
Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine.
On This Episode We Discuss:
Mike’s experience as a patient advocate and his son Tony’s diagnostic odyssey
Elli’s role as a genetic counselor in diagnosing SYNGAP
How SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency)
Sleep issues associated with SYNGAP and other symptoms
The prevalence of SYNGAP and why it’s advantageous to identify 1,000 or more people with the condition
Labs and organizations that have been helpful in supporting the SYNGAP community
Connecting with fellow parents/caregivers who have kids with SYNGAP
The status of SYNGAP1 research and potential treatments
Mike’s podcast, SYNGAP10
You can learn more about Mike’s family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram.
Stay tuned for the next new episode of DNA Today kicking off the new year on January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)
As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)
Do you like listening to podcasts that help you get centered and reframe your mindset? Check out All Things Therapy. The show focuses on the concept that we can change consciousness one conversation at a time. Most episodes are the same length as ours, about a half hour, and feature an engaging guest. You can stream on all major podcast players by searching “All Things Therapy”.
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Nicka Smith (she/her), a pro genealogist with over 20 years of experience, joins DNA Today for our second to last episode of the year! She is the host of BlackProGen LIVE, a web series focused on genealogy and family history with a special focus on people of color.
Nicka Smith is a professional photographer, speaker, host, consultant, and documentarian with more than 20 years of experience as a genealogist. She has extensive experience in African ancestored genealogy, reverse genealogy, and is expert in genealogical research in the Northeastern Louisiana area, and researching enslaved communities. Nicka has diverse and varied experience in media with a background in audio, video, and written communications. She’s appeared on TODAY Show, CNN, MSNBC, on the series Who Do You Think You Are and has been interviewed by Oakland Tribune, The Undefeated, National Geographic, and TIME. She is a citizen of the Cherokee Nation of Oklahoma, a member of two lineage societies (Sons and Daughters of the Middle Passage (SDUSMP), National Society of Daughters of the American Revolution (DAR)), and a past board member of the California Genealogical Society (CGS) and the African American Genealogical Society of Northern California (AAGSNC). Nicka served as the chair of the Outreach and Education Committee for AAGSNC, and is the former project manager for the Alameda County, CA Youth Ancestral Project where more than 325 youth were taught the value of family history.
On This Episode We Discuss:
Why people are drawn towards ancestry
How ancestry can be valuable information
Why the ancestry percent changes over time in direct-to-consumer DNA testing
Companies with diverse databases
How genetic testing companies can be more inclusive with their databases
Why it’s helpful to look at the Y chromosome and mitochondrial DNA when exploring maternal and paternal specific lineage
How haplogroups can help with ancestry research
Tracking down formerly enslaved ancestors and which records to use
Nicka’s personal experience tracking her family history
Kira mentioned a few videos and blog posts from Nicka Smith including
Trask 250 Multimedia Series, How to Trace Your Ancestors as Slaves, and 5 Lies About African American Genealogy and Family History Research. Learn more about Nicka and her important work on her website, and follow her on Twitter, Facebook, Instagram, and YouTube.
Stay tuned for the next new episode of DNA Today on December 30th, 2022! This will be our final episode of 2022, and we’ll be joined by Mike Graglia and Elli Brimble to discuss SynGAP10. New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)
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