DNA Today: A Genetics Podcast

#73 Jenna Guiltinan on Laboratory Genetic Counseling

Jenna Guiltinan is a laboratory genetic counselor. She received her Master’s in Genetic Counseling from California State University Stanislaus in 2013. Jenna worked at Ambry Genetics as a reporting genetic counselor for over four years. However, she recently left her position at Ambry to pursue a new laboratory position. As a laboratory genetic counselor, she helps interpret and report genetic test results. In this episode we discuss a subfield of genetic counseling, working in the laboratory. Jenna shares how her position differs from a “traditional” genetic counselor who meets directly with patients. She also provides insight on why more genetic counselors are pursuing careers in the laboratory setting. Jenna explains the types of tests run to identify genetic variants and what areas of healthcare utilizes these tests. The data produced from the tests needs to be interpreted, the genetic variants need to be classified. Jenna offers her insight on how much research is needed to support a classification and what a patient can do with this information. Variants of Unknown Significance (VUS) can pose a challenge when interpreting this data.If you would like to hear/read more from Jenna, check out her Twitter and LinkedIn page. She also welcomes student contact and can be found on FindAGeneticCounselor.com along with many other genetic counselors for both students and patients.

#72 Megan Maxwell on Genomes2People

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.

#71 Eleanor Griffith on Genetic Counseling Grad School Applications

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.

#70 Heather Z on Cowden Syndrome

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.

#69 Jackson Lab’s Forum on Healthcare Innovation

“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.

#68 Bo Bigelow on USP7-Related Disorders

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.

#67 Daniel DeFabio on Disorder: The Rare Disease Film Festival

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.

#66 Dr. Susan Capasso on Genetic Counseling

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.

#65 CRISPRed Imprinting Disorders

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.

#64 Dan Faszczyk on Kolgene

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!