By Kira Dineen
Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast "DNA Today" has brought you the voices o
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The podcast currently has 288 episodes available.
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)
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)
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)
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)
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)
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)
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)
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)
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.
The podcast currently has 288 episodes available.