DNA Today: A Genetics Podcast
Summary: The radio show/podcast educates the public on genetic and public health topics through event coverage, news stories, book/movie reviews, and interviews. Guest include genetic counselors, researchers, patient advocates and professors in the field of genetics.
Megan Maxwell explains her role as a research genetic counselor. She has experience in clinical, laboratory, sales, educational, and research settings. She is currently a Genetic Counselor Project Manager for The MilSeq Project at Lackland Air Force Base in San Antonio, TX. This research is conducted under the Genomes2People (G2P) Research Program at Brigham and Women’s Hospital, Harvard Medical School, which is focused on the medical, behavioral, and economic implications of translational genomics and personalized genomic medicine, and the Air Force Personalized Medicine Program. Megan earned her BS in Human Biology from University of California, San Diego (UCSD) and her MS in Genetic Counseling from California State University, Northridge (CSUN). If you are interested in finding a genetic counselor as a patient or student, go to findageneticcounselor.com or aboutgeneticcounselor.com to learn more about the field. Stay updated with Megan on Twitter and LinkedIn. And don’t forget to follow my new account on Instagram, @DNAradio.
Eleanor Griffith, MS, CGC is a board certified genetic counselor and the founder of Grey Genetics, a genetics counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is the Treasurer of the NYS Genetics Task Force and a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, where she also received her M.S. in Human Genetics We discussed how students can have a competitive application for genetic counseling graduate schools. Eleanor shares her insight on the components of an application including prerequisites, personal statements, experiences (genetic counseling job shadowing, advocacy, laboratory work, counseling), and letters of recommendation. She provides an overview of what a typical interview day looks like at Sarah Lawrence and more information on what the Sarah Lawrence genetic counseling program specifically provides students. She also talks about her background as an English major, why she pursued genetic counseling and continues to love the profession. Here’s a complete list of all the accredited genetic counseling graduate programs in North America. Students can also find genetic counselors to job shadow and interview at FindAGeneticCounselor.com. Stay updated on Eleanor’s private practice on Instagram, Twitter and Facebook. And don’t forget to follow my new account on Instagram, @DNAradio.
Heather Z is a patient advocate with two rare brain tumors and a hereditary cancer syndrome called Cowden Syndrome. On this episode she shares her journey from first symptoms, to genetic testing and eventually diagnoses and surgeries. Heather has a PTEN mutation which officially diagnosed with Cowden Syndrome. She offers insight on what she has learned through these challenges including how to helps others with hereditary cancer syndromes and rare diseases. Hereditary cancer syndromes evaluate one's risk to develop certain cancer depending on what mutation they have. For Cowden Syndrome this includes cancer of the breast, thyroid and endometrium (lining of the uterus). Most people with Cowden Syndrome develop hamartomas. These are noncancerous growths found on the skin, mucous membranes (such as the lining of the mouth and nose), and intestines. If you would like to hear/read more from Heather, check out her GoFundMe, blog, Twitter and Instagram.
“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director. Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researchers to start using the data in their own research. It would have taken years if the project had waited to release data when it was officially published. This idea of data sharing has increased collaboration between scientist, accelerating the rate of research and development. Collins also shared his excitement around CRISPR, the gene editing technology. From basic research to human trials. This is huge as people often say basic research is not worth the money, but every once in awhile something like this comes along and completely changes the field. CRISPS has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease. The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). Beta launched in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project to accelerate healthcare, specifically for individualized care. Enrolling one million participants is the goal. The term participants is key, as opposed to human subjects, as the patients are considered partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing, in 2004 it costs $22 million to sequence a genome, now in 2017 the cost is $800. “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment will help us make this transition in our health care approach. Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in it’s second phase. George Weinstock, professor at Jackson Laboratories, state there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field. Research centers around the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to it’s enormous plasticity. Our microbiome changes with our environment, diet etc. One interesting research study mentioned studies Olympic level athletes to find out if there is a “golden microbiome”, so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin. James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases. Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to patients despite the technology existing. Genetic testing is growing 20-25% yearly, however the workforce is only growing by 3%. This gap is continuously growing. Her company aims to reduce this gap by providing real time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing. Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for a potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications. An announcement/reminder that the first Genetic Counseling Awareness day will be on November 9th. Follow activities with #IAmAGeneticCounselor and on National Society of Genetic Counselor’s website.
Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter faces. Those same efforts led him to a researcher who is now investigating the disorder. Bo hosts another podcast “Stronger Every Day” and has written a book of the same name, as well as several novels. He co-founded Maine Rare. He was the State Leader for Rare Disease Day in Maine for NORD (the National Organization for Rare Disorders). He's also a lawyer. The film he produced, "Tess Is Not Alone: A USP7 Story" will be played during the Rare Disease Film Festival in Boston October 2rd through October 3rd. Learn more about USP7-Related Disorders on the Foundation for USP7-Related Disorders on their website. Keep up with Bo and his family by following @BoBigelow and @strongerpodcast on Twitter.
Daniel DeFabio is co-director of Disorder: The Rare Disease Film Festival. This event is a first of its kind showcasing a myriad of films from around the world that address the challenges of life with a rare disease. The film festival has support from some of the leading organizations in rare disease advocacy -- NORD, Global Genes, The Mighty, RDUF and MassBio. The event is going to be in Boston, MA on October 2nd & 3rd, 2017. Daniel has also written about the rare disorder Menkes Disease for The Mighty. One of these stories won the 2015 Rare Patient Story Award from Global Genes. He made a 12 minute documentary on Menkes Syndrome narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and motion graphics for American Cinematographer, PBS, bio-techs, hospitals, TNT's “The Closer” and HBO's “Curb Your Enthusiasm”. To keep updated with Disorder: The Rare Disease Film Festival, like them on Facebook.
Dr. Susan Capasso is the Genetic Counseling Program Director at Bay Path University, a new online program graduate level program. She was previously the vice-president of academic affairs, dean of faculty and the chief academic officer of St. Vincent’s College. She received her B.A. at the University of Vermont, M.S. from Georgetown University, and Ed.D. from the University of Hartford. Dr. Capasso is also a licensed and certified genetic counselor and served as a Genetic Counselor at St. Vincent’s Medical Center. In this episode, we discuss aspects of genetic counseling and getting kids excited about STEM fields. Dr. Capasso shares her personal career path into genetic counseling and how this journey differs between genetic counselors. We discuss the skills required to be a genetic counselor and what roles and responsibilities they carry. The episode wraps up with recommendations and advice for those pursuing the field of genetic counseling.
Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR. UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others. Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome). I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome.
Dan Faszczyk is the Co-Founder and CEO of Kolgene, a platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests. The demand for genetic testing is growing as more labs are performing a wider variety of tests. KolGene allows physicians access to the global supply of genetic tests while saving them time, money and improving patients’ care. This service enables physicians to offer their patients the most up to date tests available, while saving hours searching through lab’s websites to find them. Kolgene is for genetic tests as Kayak is for hotels; instead of searching for labs the clinicians post a request for a test and let labs extend unique, customized offers and have all those options appear in one screen. For years Dan held executive commercial positions in healthcare with a specialization in genetics. He worked with leading companies and labs from all over the world. His experience and insights led him to found KolGene. To stay updated on Kolgene's developments follow them on Facebook and LinkedIn; be sure to check out their on the app store or Google Play and website too!
Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute Gayle Temkin, Founder of Alyssa’s Angels Fund and mother of child with a glycogen storage disorder Dr. David Weinstein, Glycogen Storage Disorder Program at Connecticut Children’s Medical Center Michelle Cotton, a mother of child with a Fatty Oxidation Disorder (FOD) called SCADD (FODsupport.org) Madison Shaw, Founder of Maddie's Herd Dr. Mustafa Kokhura, Yale Genetics Fran Reed, CureGSD You can learn more about Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council. Check out DoYourShare.com, a supporting website featuring community stories, an opportunity for those living with a rare disease or those involved in the community to share their story, and ways to get involved in areas ranging from awareness and advocacy to research and donation. Please rate, review and subscribe in iTunes, here's a direct link to the podcast's listing.
Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal. She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders, http://www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project. Charlotte Keith is a Clinical Cytogeneticist from Edinburgh, Scotland. She works for the South East Scotland Genetics Service, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients.
Wesley Wilson discusses the epigenetic patterns in tumor progressing. He shares his expertise on pediatric cancer, how epigenetics differs between types of cancer, using epigenetics to diagnosis cancers and how treatment can differ depending on epigenetic patterns identified. Wes also gives an insider's view on the Hacking Health organization and how he contributes in his role. Wesley Wilson is a Canadian molecular biologist, whose work is focused on studying the epigenetics of tumor progression in pediatric brain cancers. He is also an ardent programmer and developer sitting on one of the organizing committees for Hacking Health. Wes founded the online science blog, MostlyScience.com and contributes to ScienceSeeker.org. His writings aim to demystify evidence based medicine.
Dan Donovan is the Co-Founder and CEO of Onevoice, a rare disease community building software solution. Onevoice provides a powerful encouragement and knowledge platform for all rare disease stakeholders. It is an all-inclusive collaboration and encouragement space for Patients and Physicians and all the people involved in rare disease — welcoming all who participate in diagnosis, treatment, research, caregiving and advocacy. Onevoice is the first Encourage Media platform – featuring the “+care” button, Sentiment Palette and Encouragement Power. Dan has spent nearly 3 decades in the pharmaceutical industry on both the industry and service sides of the business – first with Pfizer then creating Envision Pharma, which was acquired by United BioSource Corporation. His introduction to the world of rare disease began in 2011 when he was appointed to the Board of Directors and later as Chief Business Officer of Cancer Prevention Pharmaceuticals. Dan is the primary visionary behind the Clear offering.
Scott Weissman, founder of Chicago Genetic Consultants, discussing being an entrepreneur and genetic counselor at his private practice along with the subfields of genetic counseling he focuses on including cardiogenetics, hereditary cancer, and carrier screening. He shares his expertise on direct-to-consumer genetic testing offered from a variety of companies. Scott Weissman is a trailblazing genetic counselor who recently started his own independent practice, Chicago Genetic Consultants. He has previously been a genetic counselor at GeneDX and NorthShore University HealthSystem. Scott has received the Strategic Leader Award from the National Society of Genetic Counselors for working on multiple projects related to Medicare guidelines for cancer genetic testing, publishing genetic counseling and testing vignettes in the journal Community Oncology, and the United States Preventative Services Task Force BRCA genetic counseling guidelines. Scott is currently a Clinical Faculty member at the Northwestern University Graduate Program in Genetic Counseling and a senior genetic counselor at Aurora Health Care.
Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and how to have a successful career in science. We talk about the progress made so far, and how much more advances there are to be made. Trailblazers such as Sheryl Sandberg have been increasing awareness for gender work equality with her Lean In movement. Joanne offers her insight why women are not represented in CEO, President and other high positions in companies. She comments on the gender pay gap and how companies can work towards closing the gap. Careers in science include academia and research, but the list doesn't end there. Joanne explains a few non-traditional roles offered at Addgene and other companies. She shares her own experience to finding her current role at Addgene. Networking is key in careers, and Joanne discusses this in her Not Networking video. Dr. Joanne Kamens is the Executive Director of Addgene, a mission driven, nonprofit dedicated to helping scientists around the world share plasmid reagents. We previously talked to her colleague, Dr. Melina Fan about Addgene. Joanne received her PhD in Genetics from Harvard Medical School then spent 15 years at BASF/Abbott, ultimately serving as Group Leader in Molecular Biology. In 2007 she joined RXi Pharmaceuticals as Senior Director of Research Collaborations. Dr. Kamens has been raising awareness of women scientists since 1998. She founded the current Boston chapter of the Association for Women in Science. Dr. Kamens was recognized as one of the 2013 PharmaVoice 100 Most Inspiring and one of the Forty Over 40 Women Making an Impact.