DNA Today: A Genetics Podcast

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 info@DNAtoday.com. 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 info@DNAtoday.com. 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 info@DNAtoday.com. 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!

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 info@DNAtoday.com. 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”.

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 info@DNAtoday.com. 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)

Our guest today is Dahlia Attia-King, Founder and CEO of Panacea. Panacea’s mission is to improve access and utilization of genetic testing by offering affordable whole exome sequencing, physician oversight, and genetic counseling all in a 10 minute workflow. This week we are chatting about utilizing whole exome sequencing for preventive health. Dahlia’s education in biology and experience working with genetic laboratories exposed her to the reality that many middlemen stood in the way of patients receiving valuable clinical genetic tests. She embarked on a multi-year journey to discover the reasons for the barriers and was inspired to create a solution. Dahlia and her co-founders founded Panacea with a mission to increase access to clinical genetic testing. With an additional 6 years in Healthcare IT, Dahlia learned about the technology solutions integral in pushing genetic testing and healthcare into a much needed era of modernization. On This Episode We Discuss: The difference between whole exome and whole genome sequencing Why WES vs panels? Examples of conditions that we can learn risk level for through WES The future of insurance coverage of WES for preventative health purposes Importance of pre-test education of tests How the cost of WES has changed over time Founding Panacea Depth of coverage of the sequencing through Panacea Post-test genetic counseling with Panacea To learn more about Panacea and WES, follow them on Instagram or head to their website. Stay tuned for the next new episode of DNA Today on December 23rd, 2022 where we’ll be discussing African American Ancestry with Nicka Sewell-Smith! New episodes are released every Fridays. In the meantime, you can binge over 210 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 info@DNAtoday.com. Pharmacogenomics is a field of research that studies how a person's genes affect their response to medications. LetsGetChecked’s myPGx, is a new offering for business clients. This robust testing panel identifies potential drug-gene interactions for over 100 drugs across behavioral health, cardiovascular health, and pain management. This accounts for over 800 million annual prescriptions in the US alone. To learn more visit letsgetchecked.com/mypgx. LetsGetChecked also provides access to testing, virtual consultations, and medication delivery for a range of health and wellness conditions from the comfort of home. Visit LetsGetChecked.com to shop their health tests and use code “DNATODAY” for 20% off! (Sponsored)

It’s December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don’t follow us on social media @DNATodayPodcast, here are this year’s highlights…So far this year we have produced 1,747 minutes of new content, that’s nearly 30 straight hours. And it’s more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Dr. Green’s career has involved directing a major genomics research program and, most recently, leading NHGRI’s efforts in funding genomics research. In this episode, we are discussing the top genetic and genomic news stories of 2022 including what you listeners submitted! Shoutout to Daniel, Nydia, M.SPDH, Anna, Ryan and Nykole. Throughout his career, he has authored and co-authored over 385 scientific publications. He was featured on episode #182 of DNA Today when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). On This Episode We Discuss: Completion of the human genome sequence (telomere to telomere) The Genome-sequencing arms race (Lab mergers and changers) Top genomic medicine papers of 2022 Changing landscape of the genomic diagnostic ecosystem Gene therapy advances including CRISPR Genome Sequencing of Acutely Ill Newborns through beginNGS 2022 Nobel Prize Physiology or Medicine to Svante Pääbo for sequencing Neanderthal genome What to look out for in 2023 Here is a list of links to the papers and announcements we mentioned in this episode! Genomic Medicine Year in Review: 2022 (Paper) Genome.gov accomplishments in genomic medicine (includes 2019-2022 notable accomplishments) Dr. Green’s tribute to Svante Paabo when he won the Nobel this year, with links to his talks at NIH. Our breakdown of Ultima’s announcement and the sequencing costs developments this year. The epic T2T news, with background, links to the papers and some explainers. Based upon the success of gene therapy trials, there are new educational materials for the sickle cell community on how to navigate this new treatment option. DNA Today Episodes Referenced: Episode #169 Cytogenomics with Phase Genomics (Optimal genome Mapping) Episode #172 PhenoTips: Advances in Rare Disease Diagnosis (with Dr. Steven Kingsmore) Episode #182 Eric Green on the Complete Human Genome Project Episode #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium Episode #187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh (Optimal Genome Mapping) Episode #197 CRISPR Quality Control with Kiana Aran Episode #198 CRISPR Ethics with Sam Sternberg Episode #211 Jorge Contreras on The Genome Defense Be sure to follow Dr. Green and the National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements! Stay tuned for the next new episode of DNA Today on December 16th, 2022, where we’ll be discussing Preventative health through whole exome sequencing with Dahlia Attia-King of Panacea! New episodes are released every Fridays. In the meantime, you can binge over 210 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 info@DNAtoday.com. Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don’t wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now. (SPONSORED) 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. Their launch is starting with residents of Florida, so if you live in other states or countries sign up on their website to be notified when testing is available in your area. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. (SPONSORED)

It’s December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don’t follow us on social media @DNATodayPodcast, here are this year’s highlights…So far this year we have produced 1,747 minutes of new content, that’s nearly 30 straight hours. And it’s more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Sage Sargent (She/Her), who is a patient advocate for congenital adrenal hyperplasia (CAH). Sage is a 27 year old non-binary person who was diagnosed with classic CAH before the age of 1. She has a bachelors in Gender studies with a minor in Ethnic studies from the University of Utah where she graduated in 2021. Through her education and her connection to the queer community Sage has been able to heal some of the disconnect she felt growing up, when she didn’t have the language to describe her experience. Now as an adult Sage hopes that her lived experience as an intersex person can help others who might feel as lost as she once did. On This Episode We Discuss: How hormones are imbalanced in people with CAH The two main types of CAH and their symptoms Getting diagnosed with CAH CAH inheritance and carrier screening Treatments that people with CAH can utilize and their side effects CAH and the LGBTQIA+ community CAH and gender identity Gene therapy for CAH Advice and insight for parents of a child who has been newly diagnosed with CAH or couples who are carriers of the condition If you’d like to check out the papers that we referenced in the episode, you can read those here: Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia and Gender Identity in Patients with Congenital Adrenal Hyperplasia Stay tuned for the next new episode of DNA Today on December 9th, 2022 where we’ll be joined by patient advocate Mike Graglia and genetic counselor Elli Brimble to discuss SynGAP1! New episodes are released every Friday. In the meantime, you can binge over 210 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 is 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 info@DNAtoday.com. SPONSORED: Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don’t wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now.

We are recapping and reflecting on the National Society of Genetic Counselors 41st Annual conference, which was just held in Nashville. Some attendees joined in virtually and others, like myself, joined in person. It was incredible to meet so many of you listeners. I am already looking forward to NSGC 2023 in Chicago in October. If I didn’t get a chance to say hi to you, or you couldn’t attend the conference, email me at info@DNAtoday.com. I’d love to connect and also add you to our email newsletter so you can stay updated on DNA Today. Oh and don’t forget to enter our giveaway from last episode for one of 5 copies of the Genome Defense. You can enter on our social media on Twitter, Instagram, LinkedIn, and Facebook all @DNATodayPodcast. Enjoy our thoughts on the conference and what we learned! I am honored to feature four outstanding genetic counselors (wish I had time to include even more). Check out their bios below including what we chatted about during their segment of the show. Monisha Sebastin, MS, CGC (She/Her) is a genetic counselor who specializes in pediatric genetics, cardiovascular genetics, and immuno-genetic conditions in New York City. She is this year’s recipient of the Heart of Genetic Counseling Award that recognizes one genetic counselor every year who goes above and beyond for their patients. Monisha was a presenter at “We’re Not In Kansas Anymore, Toto! International Genetic Counselors’ Experiences in the US” which we chat about in this episode. Monisha continues to serve as co-chair of the USIGC sub-committee of the International Special Interest Group (SIG) and as co-chair of the Pediatric and Clinical SIG at the National Society of Genetic Counselors (NSGC). Monisha is a member of the NYCKidSeq research team and is the lead genetic counselor on her team. She volunteered as the chair of the education committee at the New York State Genetics Task Force (NYSGTF) in 2020 and 2021. You can follow Monisha on Twitter and connect with her on LinkedIn. Gabrielle Shermanski, MS, LCGC (She/Her) is a cancer genetic counselor and research coordinator at Geisinger in Pennsylvania. She earned her Master of Science in Human Genetics at Sarah Lawrence College. Gabrielle earned her Bachelor of Science in Psychology at Penn State University. We discussed the session she attended which explored the new NCCN guidelines. The updated guidelines recommend genetic testing for anyone with colorectal cancer and genetic testing for people assigned female at birth diagnosed with breast cancer 50 years or younger. You can connect with Gabby on LinkedIn. Gabrielle Ernst, MS, CGC (She/Her) is a cancer genetic counselor. She is one of the creators of Amplify Sprouted, which provides education on gender inclusive genetic counseling. Our host, Kira Dineen, was a participant in the workshop that accompanied the Amplify Sprouted content. She was one of the presenters during “Platform Presentations - Gender, Sexuality, and Identity Related to Genetic Counseling Practice” at the conference, which we chat about in this podcast episode. Gabrielle has four publications in the oncology field. She earned her Bachelor of Science in Genetics from the Ohio State University and Master of Science from the University of Michigan. You can follow Gabrielle on Twitter and connect with her on LinkedIn. Ashlyn Enokian, MS, CGC (She/Her) is a prenatal genetic counselor in Las Vegas, Nevada at a clinic with a high patient volume. She is a member of the Minority Genetic Professional Network (MPGN) and provides mentorship for genetic counseling students. Ashlyn is also the Business Liaison for GC Genius Guides. The name might be familiar with their popular Study Guide utilized by over 400 genetic counselors studying for boards and more. During the conference, GC Genius Guides launched flashcards featuring the Top 100 Genetic Conditions and sold out within 24 hours. Keep that site bookmarked and use code “DNATODAY” for a discount when they restock. Using the code helps support the podcast, so please do! And of course, she is on our DNA Today team as our graphic designer and the one to thank for our snazzy logo. You can follow Ashlyn on Twitter and connect with her on LinkedIn. Resources: NSGC International Special Interest Group’s Twitter and Website. Their email is nsgcinternationalsig@gmail.com DNA Today Episode #109 Shenela Lakhani on Genetic Counseling in Qatar Updated National Comprehensive Cancer Network (NCCN) Guidelines Amplify Sprouted for Gender Inclusive Cancer Genetic Counseling (Password: Amplify21) Amplify Sprouted for Gender Inclusive Prenatal/Preconception Genetic Counseling (Password: sprouted22) DNA Today Episode #190 PhenoTips: Gender Affirming Care in Genetic Counseling (with Holden Bender-Bernstein) GC Genius Guides’s Etsy page (use code “DNATODAY” for discounts, which supports the show) You can check out our previous NSGC recap episodes… Episode #111 NSGC 2019 Episode #135 NSGC 2020 Episode #157 NSGC 2021 This episode was released early to coincide with the end of the NSGC conference. Episodes are usually released on Friday, so stay tuned for our next episode on December 2nd. In the meantime, you can binge over 200 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 info@DNAtoday.com. When it comes to the quality of genetic testing, the most important aspect to consider is patient care. At Blueprint Genetics, patients come first. In order for a test to be considered high quality, it should provide valuable information for the patient. That’s why Blueprint Genetics is focused on prioritizing quality and delivering answers to patients and their families. Stay tuned for our interview with Blueprint Genetics where we will define what quality genetic testing means. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)

Our guest in this episode is Jorge Contreras, author of The Genome Defense. In this riveting, behind-the-scenes courtroom drama, a brilliant legal team battles corporate greed and government overreach for the fundamental right to control our genes. We’re giving away 5 copies of The Genome Defense, so be sure to check out our social media accounts for the giveaway details. If you don’t win, you can get a copy here. When you buy a copy of the book, half of the proceeds are donated to FORCE, an organization that strives to improve the lives of individuals and families facing hereditary cancer. You can learn more about the book on Contreras’ website, genomedefense.org. Jorge Contreras (he/him) is the James T. Jensen Endowed Professor for Transactional Law and Director of the Program on Intellectual Property and Technology Law at the University of Utah S.J. Quinney College of Law, with a secondary appointment in the Department of Human Genetics. His research focuses on intellectual property, technical standards and science policy, and he is one of the co-founders of the Open COVID Pledge, a framework for contributing intellectual property to the COVID-19 response. He is the editor or author of twelve books and more than 150 scholarly articles and book chapters. During his career he has served on the NIH Council of Councils and the National Advisory Council for Human Genome Research, and as Co-Chair of the National Conference of Lawyers and Scientists. His most recent book, The Genome Defense: Inside the Epic Legal Battle to Determine Who Owns Your DNA (Algonquin, 2021) describes the litigation that ended gene patenting in America. He is a graduate of Harvard Law School (JD) and Rice University (BSEE, BA). Learn more about Jorge here. On This Episode We Discuss: Why the ACLU and other groups felt so strongly that gene patents should be banned Factors that lead to the ACLU choosing Myriad and specifically the BRCA related gene patents for the lawsuit The role that public perception played in the AMP vs. Myriad case The predicted impact of banning gene patents on the economy and public health The main points that were argued in the AMP vs. Myriad case cDNA and gDNA How the ban of gene patents has impacted the biotech industry Legislation and current cases that we should be aware of that affect the field of genetics We also asked listener questions on this episode, so tune in to see if we answered yours! You can follow Jorge onTwitter and LinkedIn to stay up to date on his latest work! Stay tuned for the next new episode of DNA Today next week where our host, Kira Dineen, will be recapping the NSGC Annual Meeting! New episodes are released on Fridays. In the meantime, you can binge over 210 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 created, hosted, and produced by myself, Kira Dineen. Our team includes Communications Lead, Corrine Merlino. Video Lead, Amanda Andreoli. Outreach Intern, Sanya Tinaikar. Social Media Intern, Kajal Patel. And Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. Go check it out at Trakgene.com. Be sure to check out Episode 208 and Episode 210 of DNA Today featuring Trakgene. [Sponsored]

After two years of virtual NSGC conferences, I can’t wait to see many of you in Nashville next week! Say “hi” if you see me! If you want to be featured in our NSGC recap episodes, let me know. I would love to capture your impression of the conference to feature on the episode. Maybe you will get DNA Today merch in exchange… I will be spending a lot of time in the exhibit hall, so look for me there. As some of you may know our host, Kira Dineen, is a prenatal genetic counselor! Today’s episode topic is something that she talks about every day, family history in reproductive medicine! Joining us for this discussion is Dr. Tristan Hardy who is a dual-trained obstetrician/gynecologist and genetic pathologist with a particular focus on reproductive genetics. Tristan Hardy is a Consultant Gynecologist at Repromed and the Medical Director of Genetics at The Monash IVF Group, both in Australia! Dr Hardy completed his medical degree at the University of New South Wales and undertook specialty training in Obstetrics and Gynecology at the Royal Hospital for Women, Sydney and the Women’s and Children’s Hospital, Adelaide. Alongside specialist training, he completed a Masters in Reproductive Medicine and a PhD focussing on new methods of Preimplantation Genetic Testing. Following completion of training in Obstetrics and Gynecology, he undertook a fellowship in genetic pathology at SA Pathology. He is Australia’s only dual-qualified Obstetrician/Gynecologist and Genetic Pathologist. Dr. Hardy’s special interest is in helping couples who are planning genetic testing of their embryos, due to genetic conditions identified in previous pregnancies or on carrier screening. He runs a joint clinic with Dr. Jan Liebelt (Clinical Geneticist) to provide comprehensive care of couples undergoing IVF with Preimplantation Genetic Testing. Dr Hardy is experienced in all aspects of fertility management and performs clinical procedures including oocyte retrievals, embryo transfers and IUIs. On This Episode We Discuss: When family history is relevant to reproductive health General trends for people to keep in mind (early onset conditions, birth defects/differences, stillbirths/infant deaths, genetic disorders) What family health history information patients should try to gather prior to meeting with a reproductive healthcare specialist What people pursuing IVF/IUI using a donor egg/sperm should pay attention to in the donor profile Why having a family history of early menopause (early 40s) can increase the risk of having fragile X carriers in the family What type of genetic testing people that have had multiple miscarriages or infertility or their personal or family medical history Why it’s important for every patient to be offered carrier screening regardless of ancestry and family health history How digital pedigrees are aiding patient care Digital pedigree builder (like Trakgene) and its use in the IVF/IUI setting Don’t forget to enter our giveaway to win a lifetime TrakGene license for their pedigree software (worth $1,000/year)! TrakGene is also giving away 10 copies of “The Patient Will See You Now” By Eric Topol. Enter on Instagram, Twitter, LinkedIn, and Facebook. All of our listeners can receive a free, 12-month TrakGene software trial by using the code “DNAToday”. Here is an article about “Mackenzie’s Mission”, a research project in which 10,000 couples undergo screening, that Dr. Hardy mentioned during the interview. To learn more about TrakGene, the pedigree drawing tool and clinical genetics database software company that we discussed in this episode, you can head to their website or follow them on Twitter, Facebook, LinkedIn, and YouTube! Stay tuned for the next new episode of DNA Today on November 18th, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 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, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you a genetic counselor or genetic counseling student? Want to enter to win a $100 Amazon gift card? Participate in a quick survey this November to capture your insight on clinical trials. The goal of this study is to assess if, how, and when genetic counselors discuss clinical trials within their practice and document their process. Also the researchers will look to define a framework for current genetic counselors to incorporate clinical trials in their own practice. It took me about 15 minutes to fill it out. Link to the survey is in the show notes and in the blog post for this episode at DNAtoday.com. The principal investigator, Derek Ansel’s email is dansel2101@baypath.edu, feel free to reach out with questions.

When our host, Kira Dineen, began her career as a genetic counselor she was mostly starting from scratch because the private practice she works at hadn’t had a genetic counselor in two years. So she met with a bunch of labs to ask them about their tests so she could decide who she would be ordering from. As a brand new genetic counselor, it was hard for Kira to figure out what the important aspects of genetic testing were, so she wanted to dive into what makes a quality genetic test in this episode. We’re joined by two experts from Blueprint Genetics, Dr. Kirsty Wells and Rachel Goldberg, MS, CGC for this episode! Dr. Wells is a Senior Geneticist and Team Lead at Blueprint Genetics where she specializes in interpretation of ophthalmology panels and whole exome sequencing data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, she completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Rachel Goldberg is a Genetics Services Consultant at Blueprint Genetics. She previously worked as a pediatric, adult, and laboratory genetic counselor in both direct and non-direct patient care roles. She attended graduate school at Long Island University. On This Episode We Discuss: Defining a quality genetic test Top-notch sequencers Depth of sequencing AI programs, tools, and techniques for analyzing quality data Acceptable turnaround times for gene panels, exomes, and genomes How labs can achieve a patient-first mindset Things that healthcare providers can do to provide a quality experience How often patients that do not receive results of a causative pathogenic variant for their symptoms should check back with labs to see if any VUSs were reclassified Head over to blueprintgenetics.com and follow Blueprint on Twitter, Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today on November 11th where we explore reproductive medicine with Dr. Tristan Hardy! New episodes are released on Fridays. In the meantime, you can binge over 205 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. Go check it out at Trakgene.com. Be sure to check out Episode 208 and Episode 210 of DNA Today featuring Trakgene. [Sponsored]

In 2012, the 100,000 Genomes Project was announced, the same year we started this podcast! Back in 2015 we did an episode about the 100,000 Genomes Project so we’re excited to revisit this massive project today with Dr. Julian Barwell, who is a clinical geneticist and has countless titles but today’s most relevant one is the operational clinical lead of the 100,000 Genome project. After finishing his Clinical Genetics training (2001-2007) at Guy's, St George's and the Royal Marsden from the University of London; Dr. Barwell started as a consultant in Clinical Genetics in Leicester. He runs specialist clinics in inherited cancer susceptibility; non-alcoholic fatty liver disease and susceptibility to hepatitis, cirrhosis and hepatocellular carcinoma; Von Hipped Linda syndrome and Neurofibromatosis type 2. He has over 60 publications and helped coin the internationally known phrase, the 'Angelina Jolie effect' on referrals to inherited breast cancer clinics. He also developed the first YouTube channel for Clinical Genetics that has been viewed in over 100 countries and developed the Supporting Families with Cancer projects in association with the Genetics Education Centre (GENIE) at the University of Leicester. He is the clinical lead for the delivery of Paediatrics, Obstetrics & Gynaecology, Non-Malignant Haematology and Clinical Genetics national portfolio research studies (CRN) in the East Midlands. He is the rare disease lead for the 100,000 Genome Project in Leicester and the public and patient involvement clinical lead for the East of England Genomics Medicine Centre with the aim of reducing inequality of access to Genomic Medicine. He is the designer of the genome project eligibility criteria wheels for Health Education England and is on the Genomics England committee for patient involvement and access to genomics for black and minority ethnic groups. He is a national clinical advisor to the National Hereditary Breast Cancer Helpline and helped develop the award winning Prostaid male health App and is clinical lead of the United Against Prostate Cancer project, establishing tumour BRCA testing. He is joint clinical lead of the Paediatric and Genetics Clinical Research Facility at the Leicester Royal infirmary and is establishing a fragile X syndrome research group and patient self-navigation App project with the Genomic Medicine Service Alliance. He is a senior author of the newly commissioned book, Clinical Genetics and Genomics at a Glance as well as a children's book on DNA. On This Episode We Discuss: Ten years of the 100,000 Genomes Project (2012-2022) Advantages of using digital pedigrees tools such as the one developed by TrakGene Why it’s important to have genomes from various ancestries represented Importance of utilizing digital pedigrees How the 100,000 Genome Project is going to change the role of genetic counselors Reclassifying variants as data is continuously being analyzed If you want to learn more about what it’s like to be a clinical geneticist, check out this article which follows Dr. Barwell through a day in the life, and you can find a list of Genomics England's publications here. To learn more about TrakGene, the pedigree drawing tool and clinical genetics database software company that we mentioned in this episode, you can head to their website or follow them on Twitter, Facebook, LinkedIn, and YouTube. You can also follow Dr. Barwell on Twitter and Facebook! Don’t forget to enter our upcoming giveaway via social media next week for a lifetime subscription to TrakGene and a copy of “The Patient Will See You Now” by Dr. Eric Topol. You can also use code “DNATODAY" for a year free trial for TrakGene. Stay tuned for the next new episode of DNA Today on next Friday, November 4th, 2022 where we’ll be defining quality genetic tests with Blueprint Genetics! In the meantime, you can binge over 205 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

As some of you may know, our host Kira Dineen also co-produces the “Patient Empowerment Program” by n-Lorem. The podcast launched earlier this year and focuses solely on the needs of people with nano-rare diseases. These are people who have a unique pathogenic variant (aka mutation) that affects 30 or less people in the world, sometimes just one person. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where I picked his brain about nano-rare diseases. He is a scientist, physician, entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. So this week we are sharing an episode of the podcast where Dr. Crooke interviews Dr. Sessions Cole about the diagnosed odyssey for people with rare diseases. Dr. Sessions Cole shares his career being a neonatal pulmonologist and his involvement in the undiagnosed diseases network (UDN). Dr. Cole estimates that it can take up to 12 years to get a diagnosis for a patient with a rare genetic condition and that there could be as many as 30 million of these patients in the U.S. who are undiagnosed. The UDN is working to elevate the awareness of the diagnostic odyssey these patients undertake and diagnose up to one third of patients who are referred to the UDN. Dr. Cole is part of n-Lorem’s access to treat committee (ATTC), the committee that evaluates and recommends patients to n-Lorem. In this episode, Dr. Cole discusses the robust processes involved in the evaluation of each application to n-Lorem and the hope and value that n-Lorem is providing to nano-rare patients today. To hear other episodes of the n-Lorem “Patient Empowerment Program'', subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org. Stay tuned for the next new episode of DNA Today on October 28th! New episodes are released every Fridays. In the meantime, you can binge over 200 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 info@DNAtoday.com.

Dr. Lora Bean gives an overview of phenotypically-driven clinical results in this episode of DNA Today! Dr. Lora Bean is a clinical molecular geneticist who currently serves as the Senior Director of Quality Assurance at PerkinElmer Genomics. Dr. Bean has expertise in traditional clinical molecular testing as well as newer techniques such as next generation exome and genome sequencing. She has served as a molecular editor for GeneReviews and as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the ABMGG, and is currently a laboratory inspector and a Biochemical and Molecular Genetics Committee member for the College of American Pathologists. Previously, she served as an Associate Professor in the Department of Human Genetics and Senior Director and Regulatory Director of the EGL Genetics (formerly Emory Genetics Laboratory) Molecular Diagnostic Laboratory. Dr. Bean earned her PhD in the Department of Human Genetics at Case Western Reserve University and completed a postdoctoral fellowship at Emory University. She is board-certified by the American Board of Medical Genetics and Genomics and a fellow of the American College of Medical Genetics. On This Episode We Discuss: Differences between gene panels, exome, and genome sequencing Adapting workflows from exome to genome utilizing existing frameworks Advantages of different types of testing Limiting the floodgates of variants that inevitably come with whole genome sequencing Helpful information for providers to include with specimens to guide the laboratory when the data are analyzed The role of phenotypic data specifically in classification of sequence variants Deep intronic variants Kira was off by one, but Dr. Bean was right, ACMG has 73 genes on the list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). If you found the topics that we discussed on this episode interesting, check out this recorded presentation from Dr. Bean entitled, “Why Bigger Isn’t Only VOUSier.” Learn more about phenotypically-driven clinical results at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today on October 21st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 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. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. When Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), her mother, Amber was told to love and care for Willow but that there was no cure for this terrible fatal condition. Amber set out to find and fund the cure for MSD. That’s when she started the United Multiple Sulfatase Deficiency Foundation. She shares this personal experience on Episode 205 of DNA Today including how this affected her family and the relationships she has built with other families in the MSD community. (SPONSORED) TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)