DNA Today: A Genetics Podcast

#211 Jorge Contreras on The Genome Defense

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 bannedFactors that lead to the ACLU choosing Myriad and specifically the BRCA related gene patents for the lawsuitThe role that public perception played in the AMP vs. Myriad caseThe predicted impact of banning gene patents on the economy and public healthThe main points that were argued in the AMP vs. Myriad casecDNA and gDNAHow 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 geneticsWe 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]

#210 Reproductive Medicine Family History with Tristan Hardy

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 healthGeneral 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 specialistWhat people pursuing IVF/IUI using a donor egg/sperm should pay attention to in the donor profileWhy having a family history of early menopause (early 40s) can increase the risk of having fragile X carriers in the familyWhat type of genetic testing people that have had multiple miscarriages or infertility or their personal or family medical historyWhy it’s important for every patient to be offered carrier screening regardless of ancestry and family health historyHow digital pedigrees are aiding patient care Digital pedigree builder (like Trakgene) and its use in the IVF/IUI settingDon’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.

#209 Aspects of Quality Genetic Testing with Blueprint Genetics

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 testTop-notch sequencersDepth of sequencingAI programs, tools, and techniques for analyzing quality data Acceptable turnaround times for gene panels, exomes, and genomesHow labs can achieve a patient-first mindsetThings that healthcare providers can do to provide a quality experienceHow 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 reclassifiedHead 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]

#208 The 100,000 Genomes Project with Dr. Julian Barwell

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 TrakGeneWhy it’s important to have genomes from various ancestries representedImportance of utilizing digital pedigrees How the 100,000 Genome Project is going to change the role of genetic counselorsReclassifying variants as data is continuously being analyzedIf 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.

#207 N-Lorem: Dr. Sessions Cole on the Diagnostic Odyssey

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.

#206 Phenotypically-Driven Clinical Results with Dr. Lora Bean

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 frameworksAdvantages of different types of testingLimiting the floodgates of variants that inevitably come with whole genome sequencingHelpful information for providers to include with specimens to guide the laboratory when the data are analyzedThe role of phenotypic data specifically in classification of sequence variantsDeep intronic variantsKira 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)

#205 Multiple Sulfatase Deficiency with the United MSD Foundation

Y’all YOU made it happen. DNA Today won the Best 2022 Science & Medicine Podcast Award! We are honored to defend our title for the THIRD year in a row. Thank you listeners! An astonishing 5.7 MILLION people voted in the Podcast Awards this year, so it truly took each and every one of you for DNA Today to win. This was perfect timing to close out September which marked a decade of DNA Today and our 200th episode. Huge shoutout to our sponsors who make this show possible! I was able to mention a few during the acceptance speech, but I wish I had time to highlight all 40+. Listeners make you check out our Sponsors page for all the details. Anyway, I want to thank my team for so much hard work. Thank you to Corinne Merlino, Amanda Andreoli, Kajal Patel, Sanya Tinaikar, Ash Enokian, and Megha Matur for all your hard work. And it all comes back to you listeners; it’s the People’s Choice Podcast Award, so thanks for choosing us. It really means the world to us. This week we were joined by Amber Olsen and Faith McGown of the United MSD Foundationto discuss Multiple Sulfatase Deficiency (MSD), an ultra rare, fatal genetic condition, and what it’s like to run a rare disease nonprofit! Amber Olsen is the mother of Willow, a child diagnosed with MSD. Following WIllow’s diagnosis, Amber formed the United MSD Foundation, traveling the world to find a treatment to help the children with this devastating disease. She will not stop until enough money is raised to bring research into the clinic for the children with MSD. Amber and her husband Tom have 3 wonderful daughters, Kylee 15, Jenna 11, and Willow 4 years old.Faith McGowan is a campaign consultant at the United MSD Foundation. For more than 30 years, Faith has successfully supported the mission and financial goals of nonprofit and corporate organizations. Her work has included development, sales and marketing, public and media relations, event development and management, and securing individual, foundation and corporate support for nonprofit organizations. Faith has a BA in Journalism from the University of Minnesota and began her professional career in journalism. She is an avid runner and certified as a yoga instructor and health coach. Faith and her daughter live in Memphis, Tennessee.On This Episode We Discuss:Willow’s diagnostic odysseyEffects of MSD on the bodyHow lysosomal conditions like MSD cause neurological symptomsMSD inheritance Rarity and types of MSDMSD diagnosis (Free Invitae testing and lack of newborn screening)Types of support that kids with MSD can receiveChallenges faced by rare disease organizationsThe United MSD FoundationMSD natural history studies and clinical trialsAdvice for parents and caregivers We’d like to share a few of the materials mentioned in this episode; the United MSD Foundation’s physician guide, and this guide for parents and caregivers that have a child that has recently been diagnosed with MSD.You can follow the United MSD Foundation on Twitter, Facebook, LinkedIn, Instagram, and YouTube.Stay tuned for the next new episode of DNA Today on October 14th, 2022 where we’ll be discussing phenotypically driven clinical results with Dr. Lora Bean of PerkinElmer Genomics! New episodes are released on 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. 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. 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)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)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)

#204 Mosaicism with FUTR Podcast

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED) Have you ever wondered why Calico cats look the way they do? Is there a human equivalent? What does our genetic future look like? This week we’re featuring an episode of the FUTR Podcast where our host, Kira Dineen, was invited as a guest to chat about mosaicism. We’ve touched on mosaicism on DNA Today in the past, but we really dive into it in this episode!FUTR.tv focuses on startups, innovation, culture and the business of emerging tech with weekly podcasts featuring Chris Brandt and Sandesh Patel talking with industry leaders and deep thinkers.On This Episode We Discuss:MosaicismThe genetics of Calico catsSex disordersX-chromosome activationCytogeneticsCRISPRThe recent overturn of Roe v. WadeKeep up with FUTRtech on Twitter, Facebook, LinkedIn, and YouTube, and listen to their entire library of episodes on a wide range of tech topics here.Stay tuned for the next new episode of DNA Today on October 7th, 2022, where we’ll be discussing Multiple Sulfatase Deficiency! New episodes are released on 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. 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. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (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)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

#203 CTNNB1 Syndrome with Effie Parks of Once Upon a Gene

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories!On This Episode We Discuss:Effie’s son Ford’s diagnosis with a rare disorder, CTNNB1 syndromeNavigating a condition that only 50 other people in the world hadHow CTNNB1 Syndrome affects the bodyWhat resources Effie wishes she knew about when Ford was diagnosedAdvice for other parents in the rare disease space who are thinking about having another childFord’s feature in Beyond The DiagnosisMeeting other parents and caregivers of people with rare diseasesWhere people can listen to the podcastEffie’s son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family! If Effie’s story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.To learn more about rare diseases like CTNNB1 Syndrome, visit the National Organization for Rare Disorders, Global Genes, and the EveryLife Foundation. You can follow Effie and Once Upon a Gene on Twitter, LinkedIn, and Instagram!Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we’ll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on 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. 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. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (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)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde

Learn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field.We’re joined by genetic counselor, ​​Ann Martin, who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics. She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from Episode 177 of DNA Today, which was a really fun episode where we geeked out on the power of whole genome sequencing!Sick of Zoom conferences? The Connecticut Genetic Counselors Association’s first conference is in person! Jackson Laboratory is hosting us on Friday, October 14th in Farmington, CT. Our host, Kira Dineen, will be the moderator for Roe v. Wade Panel where we will be discussing the implications for practicing in a safe harbor state. Other presentation topics include polygenic risk scores, inclusive practice for LGBTQIA+ patients, and billing/credentials. We also built in networking time so we can all chat and get to know each other. Register here!On This Episode We Discuss:DMD average age of onset, symptoms, and symptom progressionDMD prevalence and inheritanceWhy it’s important for people to be offered carrier screening before they are trying to conceiveReproductive options for people who are carriers of DMDWhat symptoms carriers of DMD are at risk forGetting the right testing for DMDCurrent treatment approaches for DMD (EMFLAZA)Ongoing clinical trialsPPMD’s guides for caregivers of newly diagnosed peoplePerkinElmer Genomics’ free testing program, DeCode Duchenne If you’re interested in learning more about Decode Duchenne, the free genetic testing, counseling, and education program offered through a joint partnership between PerkinElmer Genomics and Parent Project Muscular Dystrophy, visit their website.We’d also like to feature a paper authored by one of our guests, Dr. Madhuri Hegde, about a single NGS-based assay that is highly sensitive for ​​diagnostic testing for DMD and is also suitable for confirmatory testing for newborn screening for DMD.Keep up with our guests on social media! Follow Parent Project MD on Twitter, Facebook, and Instagram, Dr. Maduri Hegde on Twitter, and PerkinElmer Genomics on Twitter and Facebook. If you found today’s episode topic interesting and you want to learn more about DMD, we also chatted with Rich Horgan of Cure Rare Diseases whose brother has DMD in Episode 156!Stay tuned for the next new episode of DNA Today on September 16th 2022, where we’ll be joined by Effie Parks of Once Upon A Gene Podcast to discuss CTNNB1 Syndrome! New episodes are released on 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. 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. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal.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.