DNA Today: A Genetics Podcast

#267 Is Genetic Ancestry Useful for Carrier Screening?

We are thrilled to welcome guest Blair Stevens, a certified genetic counselor and Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston and Prenatal Genetics media expert for the National Society of Genetic Counselors. Blair joins this discussion to shed light on the clinical utility of ancestry and its use in reproductive genetic counseling spaces.  
Joining as a co-host today is Dessiah Phillips, a genetic counseling student at Sarah Lawrence College. Together, we will explore ancestry data from both a clinical and educational perspective. Tune in as we delve into how this data is used in personalized medicine and tailoring healthcare solutions. 
 
Blair Stevens is a prenatal genetic counselor with over 15 years experience in direct patient care. She is an Associate Professor and serves as the Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston. Blair specializes in helping families understand and adjust to unexpected prenatal diagnoses and counseling families with fetal anomalies identified on ultrasound. She has also served in various leadership positions within the National Society of Genetic Counselors.
On This Episode We Discuss:
Historical and current use of genetic ancestry in healthcare
Approaches and techniques of using ancestry data
Challenges of using ancestry data
How unknown ancestry impacts healthcare
Assessing carrier status of conditions based on ancestry data
Ethical considerations and the future for ancestry data
 
Stay tuned for the next new episode of DNA Today on Friday, December 22nd! New episodes are released every Friday. In the meantime, you can binge over 260 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
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 logo 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.

#266 Genetics Wrapped 2023

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2023. It’s hard to fit a year’s worth of genetics in one episode, let alone a half hour so we bring you this special double episode of DNA Today. 
 
Our host Kira Dineen is joined by two leaders in genetics, Dr. Eric Green and Dr. Brendan Lee. 
 
Dr. Eric Green
Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). 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). Throughout his career, he has authored and co-authored over 385 scientific publications. 
 
Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182 when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260. He was also on last year’s Genetic Wrapped episode (#214). 
Dr. Brendan Lee
As a pediatrician and geneticist, the overall mission of Dr. Brendan Lee’s research program is to translate the study of structural birth defects and inborn errors of metabolism into a basic understanding of development, disease and novel therapeutic approaches. In the area of metabolism, we have applied genetic approaches to the study of biochemical genetic disorders (specifically urea cycle disorders) as models of complex diseases (those involving nitric oxide dysregulation). This has led us to study the consequences of metabolic derangements broadly in the endocrine, cardiovascular, skeletal, renal and neurological systems. In the area of structural birth defects, we have studied paracrine and endocrine signaling pathways that regulate skeletal development including morphogens (TGF, Wnt and Notch), and extracellular matrix proteins and their modifications (e.g., collagen prolyl-hydroxylation) that contribute to the human skeletal dysplasias including brittle bone diseases and connective tissue diseases like Ehlers-Danlos syndrome. These developmental pathways have led us to ask how their dysregulation contributes to common diseases such as osteoporosis, osteoarthritis and bone cancer.
 
The mechanistic discoveries of my laboratory research program are translated into the clinical arena via clinical research that is performed as part of the Skeletal Dysplasia Clinic and the Metabolic Disorders Clinic at Texas Children’s Hospital, respectively, and as part of two NIH rare diseases clinical research consortia (the Brittle Bone Disorders Consortium and the Urea Cycle Disorders Consortium). My clinical research program began with stable isotopic measurements in humans and urea cycle disorder patients to better diagnose and assess new treatments. These human studies evolved into the assessment of nitric oxide flux in patients with UCDs and specifically in those with argininosuccinic aciduria. I have participated in and led both investigator-initiated and industry-sponsored interventional studies including the design and implementation of Phase II and III studies of a novel ammonia scavenger glyceryl-triphenylbutyrate in urea cycle patients; combinatorial phenylbutyrate/arginine treatment and nitric oxide supplementation in patients with argininosuccinic aciduria; and phenylbutyrate in maple syrup urine disease. In the area of skeletal dysplasias, I have studied the utility of zoledronic acid, teriparatide and anti-TGF treatments in pediatric and adult osteogenesis imperfecta. Our preclinical gene therapy studies have led to a clinical trial of helper-dependent adenoviral gene therapy in osteoarthritis. Finally, I have focused on advancing the diagnosis of genetic diseases via gene discovery, multi-omic approaches to phenotyping and mechanistic studies in the NIH Undiagnosed Diseases Network.
 
Top 2023 Genetics Advancements
 
The 20 anniversary of the completion of the Human Genome ProjectEpisode Recommendation: #182 Eric Green on the Complete Human Genome Project
Shoutout to listener Illham Ratbi who shared on our social media that this was among the top stories they were impressed with: “The complete sequencing of Y chromosome the last missing piece of human genome”
 
New, specific gene editing may treat sickle cell disease Sharma A., et al. (2023). CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease. N Engl J Med. 389(9), 829-832. 
Episode Recommendation: #251 Diversifying Genetic Research with 23andMe (including sickle cell disease insight)
Episode Recommendation: #201 Sickle Cell Disease with Lifting the Veil
Episode Recommendation: #198 CRISPR Ethics with Sam Sternberg
 
Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian disorders Hoskovec, J., et al. (2022). Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions. Genet Med. 25(2), 100334. 
Concerned about BillionToOne’s BabyPeek
Episode Recommendation: #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne (Author of this article, Jennifer Hoskovec, is one of the guests)   
 
Polygenic risk scores (PRS) and family history (FH) are independent indicators of inherited disease riskMars, N., et al. (2022). Systematic comparison of family history and polygenic risk across 24 common diseases. Am J Hum Genet. 109(12), 2152-2162.
Episode Recommendation: #168 Polygenic Risk Scores with Giordano Bottà
 
Pharmacogenetic intervention reduces serious adverse drug events 
Swen, J.J., et al. (2023). A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open- label, multicentre, controlled, cluster-randomized crossover implementation study. Lancet. 401, 347–356.
Episode Recommendation: #174 Pharmacogenomics with Fulgent Genetics
Episode Recommendation: #229 Pharmacogenomics with Avni Santani
 
Natural language processing helps to prioritize critically ill newborns for whole-genome sequencingPeterson, B., et al. (2023). Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning. Genome Med. 15(1), 18.
Episode Recommendation: #226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde (Our most shared episode of 2023 according to Spotify) 
 
Predictions for 2024 including artificial intelligence Episode Recommendation: #231 ChatGPT and AI In Genetics with Daniel Uribe (Our most popular episode of 2023 according to Spotify) 
Be sure to read “Genomic Medicine Year in Review: 2023”. It’s not published, yet but we will update these show notes/blog post with the link when it is. Many of the landmark papers we discussed are highlighted in this article. Dr. Green is one of 14 co-authors that selected these top papers for the year. 
 
Stay tuned for the next new episode of DNA Today on Friday, December 15th! New episodes are released every Friday. In the meantime, you can binge over 265 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
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 logo 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.

#265 Whole Genome Sequence Analysis with Nebula Genomics

Nebula Co-Founder Kamal Obbad analyzes our host Kira Dineen’s genome!
 
Whole genome sequencing, once a futuristic concept, has now become an integral part of the genetic landscape. When this groundbreaking technology first emerged, it came with a staggering price tag. 
 
Picture this: It's 2003, and the Human Genome Project has just been completed, costing nearly $3 billion to sequence a single human genome. Fast forward 20 years to today, this looks radically different. Thanks to remarkable advancements in technology, the price of whole genome sequencing has plummeted to a fraction of what it once was. 
 
Nebula Genomics offers consumers whole genome sequencing and lifetime memberships for only $300. Yeah, that’s it; $300. So our host Kira Dineen couldn’t resist and sent off her cheek swab to Nebula to have her whole genome sequenced for the first time. To explore the results we are joined by Kamal Obbad, who is the co-founder of Nebula Genomics. Previously, he was a product manager at Google working within Google Research and ChromeOS. Kamal was a Gates-Cambridge Scholar at the University of Cambridge and is a graduate of Harvard University. Additionally, he is a Forbes 30 under 30 honoree.
On This Episode We Discuss:
Pioneering Geneticist  Dr. George Church’s role with Nebula Genomics 
Inspiration to start Nebula Genomics 
Key benefits of having access to one's entire genome compared to limited genetic testing (like gene panels or even exomes)
How Nebula helps consumers understand the 100 GBs of data produced from their whole genome sequence 
What whole genome results provide and how scientifically accurate results are for each trait
The process to decide what categories to include in Nebula’s WGS kit including autoimmunity, behavior, cancer, cardio, metabolism, and pregnancy. 
Requirements for how much data needs to be able to back up the information in the reports
How Nebula comes up with the likelihood for behavioral traits
Exploring how people should or should not use the health related information
How often people should check back with their whole genome sequencing lab for updates
Additional traits Nebula is considering adding in the future
If you too want to have your whole genome sequenced by Nebula Genomics use code “DNATODAY” for 15% off here! We also are giving away a kit, so head over to our social media @DNATodayPodcast on Instagram, LinkedIn, X and Threads to enter. 
 
Keep up with Kamal on X (formerly Twitter) and LinkedIn. Also check out this cool article featuring Kamal. 
 
Stay tuned for the next new episode of DNA Today on December 8th! New episodes are released every Friday. In the meantime, you can binge over 260 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.

#264 XXY (Klinefelter Syndrome) with Ryan Bregante

Ryan is the president and founder of California based non-profit, Living with XXY. Ryan is a 37 year-old with Klinefelter syndrome or 47,XXY. Klinefelter syndrome is the result of an extra X chromosome, affecting roughly 1 in 500 males. Ryan’s parents learned about his XXY diagnosis during his mother’s pregnancy. His experiences navigating XXY and those of the over 600 families he’s met along the way help guide and inspire the work Ryan does today.
 
While Ryan’s background includes work as a fine dining chef and action sports photographer, he currently spends most of his time advocating for his community through his non-profit. Living with XXY was officially established in 2019 and focuses on creating a community, spreading awareness and sharing positive traits for those with an XXY diagnosis. Living with XXY is growing everyday and has a reach of over 40 countries.
 
Ryan is currently traveling around the US, meeting with clinics, professors/students, other professionals and families to share the work of Living with XXY and create opportunities for connection for those with XXY.
 
On This Episode We Discuss:
Basics of Klinefelter Syndrome aka XXY
Processing his diagnosis at the age of 9 years old 
Symptoms and challenges that people with XXY experience
How symptoms can differ for people who are mosaic with XXY
Taking testosterone 
Typical way of learning of the XXY diagnosis 
XXY affecting about 1 in 500 babies assigned male at birth, but historically, it’s been underdiagnosed (only 25% diagnosed in their life)
The effect of NIPS changing how many people are diagnosed with XXY
Debunking myths about XXY
Positive traits many people with XXY have in common such as being “right brained”
Support and resources “Living with XXY” offers to families and individuals affected by Klinefelter syndrome
How “Living with XXY” engages with the medical community to promote more accurate understanding and care for individuals with XXY
The global reach of “Living with XXY” with a presence in over 40 countries
 
Links mentioned during the episode: 
 
Living with XXY Resource Sheets (Kira’s Fav she gives to patients)
Living with XXY Podcast 
Strategies and advantages of early diagnosis in Klinefelter's syndrome
Facebook Support Group
 
Stay tuned for the next new episode of DNA Today on December 1st! New episodes are released every Friday. In the meantime, you can binge over 260 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
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 logo 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. 

#263 Ehlers-Danlos Syndromes with Izzy Kornblau

We return in person to record at NBC Stamford Studios to learn about Ehlers-Danlos syndromes, we are joined by cardiovascular genetic counselor, patient advocate, and YouTuber Izzy Kornblau.
Izzy Kornblau, MS, CGC, is a cardiovascular genetic counselor at the Mount Sinai Medical Center in New York. Izzy has over 3 years of research experience in the Ehlers-Danlos syndromes (EDS). Her current research focus is investigating the genetic etiology of hypermobile Ehlers-Danlos syndrome using a candidate gene first identified by the medical university of South Carolina. 
Izzy began making YouTube videos in 2018. content includes educational videos about genetics, genetic counseling, EDS, and navigating the healthcare system and social  situations with a chronic illness. She graduated with a master’s of genetic counseling from the Icahn School of Medicine at Mount Sinai in 2023 and completed her undergraduate degree at Washington University in St. Louis in 2019. She has over 45,000 YouTube subscribers with over 100 published videos. 
On This Episode We Discuss:
 
Izzy’s Youtube channel success covering genetics, genetic counseling, EDS, and navigating healthcare with a chronic illness.
Insights into Ehlers-Danlos syndromes: Understanding different types under the EDS umbrella and their impact on individuals and families.
Personal journey: A genetic counselor and individual with EDS – how personal experience shapes genetic counseling approach.
Personal insights in supporting patients and families dealing with EDS: Leveraging firsthand knowledge to provide effective support.
Signs and referrals for EDS evaluation: Addressing the often-overlooked condition and signs that may prompt a genetics referral.
Challenges and opportunities in career as a genetic counselor with EDS: Shaping perspective and influencing genetic counseling approach.
Advice for those newly diagnosed with EDS: Providing guidance, especially on self-advocacy.
Fostering community and support: Building connections for patients and peers dealing with genetic conditions.
Research on hypermobile EDS genetic etiology: Investigating candidate genes and contributing to the understanding of the condition.
Research background informing genetic counseling: How a research background shapes the approach to genetic counseling, particularly in EDS.
Tips for navigating genetic conditions and healthcare: Advice for individuals and families facing challenges in these areas.
Key issues in genetics and healthcare accessibility: Discussing important challenges that need more attention.
Importance of raising awareness about genetic conditions: The impact on early diagnosis and treatment.
Legacy in the field of genetics: As a counselor and content creator, the desired impact on the field and community.
 
Check out Izzy’s YouTube channel. We recommend this video where Kira and Izzy react to genetic scenes in TV shows like Glee, Grey’s Anatomy, and Broad City. 
 
Stay tuned for the next new episode of DNA Today on Friday November 24th, 2023! New episodes are released every Friday. In the meantime, you can binge over 260 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. 
 

#262 Genetic Counseling in the Digital Age with Doron Behar

On DNA Today we are often exploring how genomic data is altering healthcare. We will continue to do so in this episode with the CEO of Igentify, Dr. Doron Behar. He holds MD and PhD degrees from the Technion - Israel Institute of Technology. We are going to dive into the genetic counseling bottleneck and how companies like Igentify, are working to alleviate it. 
 
Dr. Doron M. Behar, CEO, Igentify holds an MD and PhD degrees from the Technion - Israel Institute of Technology. At his capacity as an MD he graduated two specialization programs in Internal Medicine and Critical Care Medicine in Rambam Medical Center, Haifa Israel and a third specialization program in Medical Genetics at the Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus. In parallel, his PhD thesis was in the field of Population Genetics. Dr. Behar's research area of interest is across the broad range of evolutionary genomics, ancestry, phylogenetics and translational genomics.
 
Dr. Behar has multi-year background experience in the development of genetic testing for the public, using a direct internet based customer approach, at his capacity as the chief medical officer of Gene by Gene Ltd. During the course of his work he gained expertise in the various aspects of mass genotyping, including regulation, privacy, database creations and mining, website designs, automation, machinery, genetic analysis, quality reassurance, and more. His primary interest is in developing robust, low-priced genetic testing to the general public that will allow the hope of responsible and personalized genetic medicine to any individual, worldwide.
On This Episode We Discuss:
Leveraging technology to alleviate the pressure and effects of burnout
How to ensure we don’t lose a personal connection in the age of digital age
The role of precision medicine in the genomics revolution 
Challenges of implementing technology in the healthcare system presents challenges
The “Genomic Wallet” allowing our genetic information to be accessible 
Advances in genomics on the horizon 
 
Learn more at igentify.com. Stay tuned for the next new episode of DNA Today on Friday, November 17th! New episodes are released every Friday. In the meantime, you can binge over 260 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
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 logo 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.

#261 Tuberous Sclerosis Complex with Dr. Ian Miller

In this episode we are learning about tuberous sclerosis complex (TSC) and are joined by guest Dr. Ian Miller. 
 
Dr. Ian Miller is a pediatric epileptologist who specializes in pediatric epilepsy, including genetic epilepsy. He is an advocate for genetic testing in every individual with epilepsy, even if they already have a "syndrome".
 
He serves as Vice President in Clinical Development at Marinus Pharmaceuticals. Dr. Miller has 14 years of experience at Nicklaus Children's Hospital in Miami, where he most recently served as the Chair of the Neurology Department, and on the Board of Directors for First Choice Neurology (a private practice of over 80 neurologists). Within the hospital he was the founding Medical Director of the Ion Channel Epilepsy Program, co-Director of the Tuberous Sclerosis Program, and the Director of Neuroinformatics. 
 
Dr. Miller’s research experience includes participation in all five of the pivotal trials for cannabidiol, including one as a first author. He was also a primary investigator for fenfluramine, nasal diazepam, and neuropace, among others, and has provided input regarding trial design and endpoints for three early gene therapy candidates in SCN1A, and enrolled patients in one of them as PI. 
 
He is a member of the Medical Advisory Board for the Dravet Syndrome Foundation (DSF), and a member of the American Epilepsy Society. He is board certified in Neurology with a special qualification in Child Neurology, as well as Clinical Neurophysiology, Epilepsy, and Neuroimaging. Dr. Miller testified with the DSF at the FDA in 2018 regarding the need for an ICD10 code for Dravet syndrome, leading to the approval of the G40.83 and its subgroups in October of 2020. 
 
Dr. Miller received his M.D. degree from the University of Iowa, in Iowa City, where he grew up. He completed residency and fellowship training at the University of Utah and the University of Washington before completing Clinical Neurophysiology fellowship at Miami Children’s Hospital. 
On This Episode We Discuss:
Overview of TSC
Methods to diagnose TSC 
The genetics and potentially inheritance behind TSC
Common early signs of TSC include skin abnormalities, seizures, and developmental delays
Early intervention including medications and surgical procedures
Challenges faced by individuals with TSC include managing seizures and cognitive difficulties
The Marinus TSC clinical trial, currently in phase III
 
To learn more about participating in clinical studies for TSC, you can visit knowrare.com/tsc or trusttsctrial.com. You can also visit TSC Alliance, the organization that Dr. Miller recommended during the episode. 
 
Stay tuned for the next new episode of DNA Today on November 10th! New episodes are released every Friday. In the meantime, you can binge over 250 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
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 logo 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. 

#260 PhenoTips: Population Genomics in Clinical Practice

We are sharing the twenty-fifth installment of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen. She interviewed a panel of international industry leaders in clinical genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice.
 
Applying population genomics in clinical practice has the potential to revolutionize healthcare by enhancing disease prediction, enabling personalized medicine, and advancing medical research. By leveraging the wealth of genomic information available, clinicians can provide more targeted and effective treatments, ultimately improving patient care and outcomes. However, essential concerns such as ethical considerations, data privacy, and the responsible use of genetic information, must be addressed as population genomics becomes an increasingly integral part of modern medicine.
 
Dr. Eric Green is the third appointed director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Appointed director by Dr. Francis Collins in 2009, Dr. Green has been at the Institute for more than 25 years, during which he has held multiple key leadership roles. He served as the Institute’s scientific director for 7 years, chief of the NHGRI Genome Technology Branch for 13 years, and founding director of the NIH Intramural Sequencing Center for 12 years. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes. During his career, Dr. Green has authored and co-authored over 385 scientific publications.
 
Dr. Julian Barwell is a consultant in clinical genetics at the University Hospitals of Leicester with a particular interest in public engagement, stakeholder group co-creation, and the implementation of genomic medicine projects. His outreach work includes launching the cancer genomics branch of the 100,000 genome project on the BBC Breakfast sofa, co-authoring the children's book, “What is DNA?”, as well as answering clinical queries for the National Hereditary Breast Cancer Helpline. In addition to his over 70 academic publications and chapters in four other books, he has helped establish prostate cancer tumour sequencing for BRCA pathogenic variants and led an awareness and outreach campaign for men at high risk of aggressive disease. Currently, Dr. Barwell is developing a digital genomic strategy including patient self-navigation guides for patients with Lynch syndrome, aiming to expand this to other patient groups. He is also developing an interventional research strategy and holistic care clinic for Fragile X syndrome in partnership with the Fragile X Society and Research Space, a clinical research facility he co-established. As a Professor at the University of Leicester, Dr. Barwell lectures on inherited cancer susceptibility, cancer genomics, bioethics, 21st-century healthcare, and working with different types of media.
 
Dr. Fiona Brinkman is a Distinguished Professor in Bioinformatics and Genomics at Simon Fraser University, most known for R&D of widely used software that aids more integrative, systems-based analyses of microbe and human genomics/transcriptomics data. She leads CHILDdb data integration, enabling more integrative analysis of diverse CHILD Cohort Study data, as well as co-leading development of the IRIDA platform, which is now used as the primary platform for Canada’s Public Health Agency to track infectious disease outbreaks using combined epidemiological, lab and genomics/metagenomics data. Dr. Brinkman enables better genomic data sharing in an ethical framework by co-coordinating two large consortiums consisting of researchers from 15 countries. Dr. Brinkman serves on several committees and Boards, including the Scientific Advisory Board for the European Nucleotide Archive, and has recently Co-Chaired a Pan-Canadian Cohorts Working Group. A fellow of the Royal Society of Canada, her awards include a TR100 award from MIT, Thompson Reuters “World’s Most Influential Scientific Minds”, and recently a Distinguished Alumni Award from the University of Waterloo and SFU Distinguished Professorship. Her interests include developing more preventative, sustainable approaches for disease control, using microbiome data as a sentinel for animal or ecosystem health, and factoring in Indigenous Science approaches.
 
Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 7 podcasts including four rare disease/genetics shows. Her main genetics podcast, DNA Today, is in the top 1% of podcasts globally. The show has won the Best Science and Medicine Podcast Award for three years running, among others. DNA Today has produced 250 episodes and counting with support from over 50 sponsors. She was accepted into The Podcast Academy and previously served on NSGC’s 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 at Sarah Lawrence College and is a licensed certified genetic counselor currently practicing prenatal in Connecticut.
 
In this panel discussion, an international panel of leaders at the forefront of genomics discuss:
The optimal utilization and collection of genomic data
Challenges to applying population genomics in clinical care
The ethical considerations of data sets and methods to improve diversity
Advancing clinical care through delivery models, channels, and technologies
Best practices for leveraging population genomics in routine clinical care
 
If you want to hear more from Dr. Eric Green, check out his other two episodes on DNA Today: #182 about the complete human genome project and #214 recapping top genetic stories of 2022.
 
If you want to hear Dr. Julian Barwell discuss the 100,000 Genomes Project, listen to Episode 208 of DNA Today. 
 
Over the years we have shared multiple episodes of the PhenoTips Speaker Series, we recommend checking out all 25 episodes on their own podcast feed including Spotify and Apple Podcasts by searching “PhenoTips Speaker Series”. And our host Kira Dineen is the host of most of these installments!
 
Stay tuned for the next new episode of DNA Today on Friday November 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
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 logo 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. 

#259 NSGC 2023 Recap and Reflections

We want to acknowledge the war in the Middle East and its impact on this conference from a canceled session to protests close to the conference center. Regardless of how we view the war, it’s important we listen and support one another. 
 
You might be wondering why this episode was not released Friday morning like all of our episodes for the last few years… Well, we were busy at The National Society of Genetic Counselors Conference in Chicago which just wrapped. In order to be able to fully reflect on the conference we wanted to hold off on recording until the last day. Also this is why our host Kira Dineen’s voice is so strained because she was talking to so many of you. Our hearts are full! NSGC was incredibly fun this year! It was amazing to meet so many of you. Podcasting is very one way compared to other forms of digital media so it’s such a treat every year to meet people in person including many listeners who are genetic counselors and genetic counseling students. If we didn’t get to chat, please email in (info@DNAtoday.com). 
 
Host Kira Dineen (she/her) is joined by fellow genetic counselor Catherine Mayo to recap and reflect on NSGC this year. Catherine Mayo (she/her), is a Genomic Science Liaison at Ambry Genetics. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. Opinions in this episode are her own. 
 
Check out Catherine’s other appearance on DNA Today where we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. That’s Episode #110. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. 
 
October is also the 26th year anniversary of the movie’s release so our Patreon group is hanging on Zoom later this month to nerd out about it together! If you haven’t watched it, Gattaca is about a futuristic society where there is this disparity between people who were naturally conceived and those who were conceived through ART and are “designer babies”. 
 
National Society of Genetic Counselor (NSGC) 2023 Conference Sessions Discussed:
You Can Do It, Too! Genetics Content Creation and Science Communication via TikTok, Instagram, Podcasting, YouTube, LinkedIn and More
Janus Lecture - Family History: Exploring the Roots and Branches
NSGC Professional Issues Panel: How to “Widen the Frame” and Bring Intersectionality to Your Genetic Counseling Practice
Plenary Session: Say My Name, Say My Name: It's Time to Discuss the Problem with the Name "Genetic Counselor"
More info and discussion here
The Most Important Omics of All: Economics of Healthcare Across Private, Public, and Not-for-Profit Organizations
How to Build a Somatic Testing Protocol in Oncology: We’re Building the Plane While We’re Flying It
Late Breaking Plenary Session: Embracing Artificial Intelligence in Genetic Counseling: Transforming Patient Care and Enhancing Clinical Outcomes
 
Readings Referenced:
The Practical Guide to the Genetic Family History By Robin Bennett (March 2010)
The Spring of Sight By Rob Boscacci (May 2023)
Abandoning the word Caucasian (Oct 2023)
Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors (Sept 2022) 
Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors (Sept 2008)
Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors (Sept 1995)
Comparison of Ophthalmologist and Large Language Model Chatbot Responses to Online Patient Eye Care Questions (Aug 2023)
Scientists release a new human “pangenome” reference (May 2023)
 
DNA Today Podcast Episodes Referenced:
#110 Gattaca, 22 Years Later 
#182 Eric Green on the Complete Human Genome Project
#189 Building Inclusive Pedigrees with PhenoTips
#231 ChatGPT and AI In Genetics with Daniel Uribe
#235 Genetic Counseling History: ABGC Formation
#243 PhenoTips: Navigating Barriers in LGBTQIA+ Genetic Care
 
Curious about other NSGC conferences? We have recapped the last five years of conferences including 2019, 2020, 2021, and 2022. 
 
Stay tuned for the next new episode of DNA Today this Friday! New episodes are released every Friday. In the meantime, you can binge over 250 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
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 logo 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. 
 

#258 Human Touch of Variant Interpretation with Blueprint Genetics

Prepare to uncover the mystifying realm of genetics as we bring you a thought-provoking conversation with Meena Mahey Kumar and Laura Fuqua from Blueprint Genetics. Together, we'll explore the pivotal role that human touch plays in interpreting genetic data, emphasizing the irreplaceable importance of meticulous analysis and individualized patient care. You'll learn how their unwavering dedication to transparency in classifying variants is a game-changer in patient outcomes.
 
You'll be captivated as Meena and Laura recount a riveting real-life instance of how technology, clinician collaboration, and data interpretation converged to bring about transformative medical management for a pregnant patient. Discover the intriguing concept of mosaicism and its profound influence on genetic interpretation. They will also shed light on the challenges and nuances of genetic testing, underscoring the vital necessity of human involvement in this complex process.
 
Our guests will also reveal how their trailblazing team at Blueprint Genetics has created innovative tests, pushing the envelope in coverage and detection of smaller deletions. We'll delve into the complexities of genetic testing and introduce you to the bioinformatics team's contribution at Blueprint Genetics. You'll understand how their unique 'human touch' continues to enhance patient care. Meena and Laura discuss the ongoing evolution in the field of genetics and how we can leverage these advancements to better serve patients and the wider community. 
 
Meena Mahey Kumar is the Senior Director of Clinical Genomics and supports the clinical genomics services (CGS) team at Blueprint Genetics. She actively volunteers in the Quest Inclusion and Diversity Council. She is board certified in genetic counseling by the American Board of Genetic Counseling and earned her Master of Science in Human Genetics from Sarah Lawrence College, NY. She is passionate about genomics in patient- centered healthcare and diversity in genomics. She supports efforts to make high quality genetic diagnostics accessible across the world and works to continuously add to the knowledge and conversation in genomics. Meena has worked in a pediatric, adult and prenatal genetics clinic setting before working in commercial genetics laboratories leading sales & marketing, and clinical genomics services initiatives. She believes in strong partnerships between clinic and lab for best patient outcomes.
 
Laura Fuqua is a Genomic Variant Scientist for Blueprint Genetics. As part of the global Clinical Interpretation team, she analyzes variants for their pathogenicity in human disease and collaborates across Blueprint and Quest to build genomic services. A proud member of the BpG Inclusion and Diversity subcommittee and the Quest Pan Asian Business Leaders provides opportunities for a welcoming and thriving workplace. Laura maintains active board certification by the American Board of Genetic Counseling and earned a master’s degree in genetic counseling from Brandeis University. Laura’s previous decade-long experience encompasses caring for and managing comprehensive medical care for patients with a personal or family history of genetic conditions, notably hereditary cancer and maternal fetal medicine. Currently, she is a member of the ClinGen Consortium TP53 gene expert panel, working to elucidate the clinical significance of VUSs for patients with Li Fraumeni syndrome.  
 
Learn more at blueprintgenetics.com and follow Blueprint Genetics on X (Formly Twitter), Facebook, and LinkedIn. 
 
Stay tuned for the next new episode of DNA Today where we will be recapping the National Society of Genetic Counselors’ Annual Conference in Chicago next week! Our host, Kira Dineen, will be there, so say hi if you run into her. Blueprint Genetics will also have a booth at NSGC so stop by as you explore the exhibit hall. 
 
New episodes are released every Friday. In the meantime, you can binge over 250 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.