DNA Today: A Genetics Podcast

#98 Lydia Seiders on Aplastic Anemia

To celebrate and honor Rare Disease Awareness month (February) Lydia Seiders joins me on the show. She is a volunteer Maryland State Ambassador for NORD, the National Organization for Rare Disorders, through NORD’s advocacy arm the Rare Action Network. Her daughter was diagnosed with aplastic anemia, a form of bone marrow failure. This motivated Lydia to become an Ambassador for NORD. In this role, she leads about 200 network members across the state to raise awareness for approximately 600,000 patients affected by a rare disorder. Lydia leads educational initiatives and develops state-based campaigns to increase patient awareness. She partners with advocates nationwide to act on policy impacting the rare disease community.Lydia also works closely with the Aplastic Anemia and MDS International Foundation and the national bone marrow registry - Be the Match. She assists patients and families globally obtain reputable resources for bone marrow failure. Most recently she began collaborating with RARE Revolution Magazine, a dedicated free rare disease publication. She will help to share in the direction of the Rare Revolution movement.On This Episode We Discuss:Her daughter, known as #EmmaStrong, diagnosis of aplastic anemiaDiagnostic journeyAplastic anemia symptoms and causeNIH’s role in Emma’s treatmentCurrent research for aplastic anemiaLydia’s role as a state ambassador for NORDEducational initiatives and campaigns for the rare disease communityNORD’s resources for parents and caregiversAdvice for parents and caregivers of a loved one with a rare diseaseResources Mentioned During The Show:National Organization for Rare Disorders (RareDiseases.org)RareAction.orgWhen signing up, their system will link you to your state’s RAN by your zip codeThe Aplastic Anemia and MDS International FoundationMaryland’s Rare Action Network Facebook PageRAN is active in all 50 states, listeners can find their state to get involvedBe The Match (Emma’s Page)Learn how to join the bone marrow registryLearn more about Emma in this blog post part 1, part 2 and part 3. Stay updated with Lydia by following her on Twitter and connecting with her on LinkedIn.Don’t forget to raise awareness this month (and every month) for rare diseases, especially on Rare Disease Day which is on Thursday, February 28th 2019.Stay tuned for the next new episode of DNA Today on March 1st. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries for my guest, Lydia Seiders, or myself can be sent to info@DNApodcast.com.Don’t hesitate, we love hearing from listeners.

#97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2)

A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We hope prospective and applying students find this summary and these two episodes helpful!On This Episode We Discuss:Overall Application TimelineSchools Applied vs Interviews Invites ReceivedPreparation Strategies for InterviewsA Typically Interview Day ScheduleTypes of Interview QuestionsMethods to Keep Track of Schools/InterviewsHow the Match System WorksFactors Used to Assess and Rank ProgramsReasons for Our Number 1 PickMatch OutcomesThe PanelKira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features nearly 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. She is in Sarah Lawrence College’s Genetic Counseling Class of 2020.Brynna Nguyenton is a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi.Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach.Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her acceptance into the Master of Genetic Counselling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counselling to Prince George, and serving the northern communities of British Columbia.Stay tuned for the next new episode of DNA Today on February 1st. As announced last month, the updated 2019 release schedule is new episodes on the first Friday of every month. See what else I am up to on Twitter, Instagram, Facebook and iTunes.Don’t forget to check out the first part of this conversation in episode 87 where we discuss how to gather the experience and classes to have a competitive application.Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you! Don’t hesitate, we love networking with fellow future genetic counselors. We look forward to seeing some of you at your interviews!

#96 Jim Cavan on Backpack Health

Jim Cavan, CEO and President of Backpack Health is featured on this episode. He has great passion for helping healthcare companies tackle systemic problems, and 20 years of executive health research and startup leadership experience. The development of Backpack Health is the result of several key goals of his, including improved access to and control of medical information, and less obtrusive collection of research data.Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys. The Backpack Health mission is to empower patients by making it easy for them to access, own and control all their health information to support better health for themselves, their loved ones and their communities. Just like a real backpack, the portable, multimodal, multilingual app allows users to carry around what matters most – their personalized, comprehensive medical information and documents – in one central location. Backpack Health also provides a platform for organizations to engage patients, collect up-to-date data and build communities around the globe.On This Episode We Discuss:How Backpack Health StartedJim’s Role at Backpack HealthBackpack Health’s Services for Patients and CaregiversSpecific Groups to BenefitLanguages and Countries CoveredHow Users Can Access and Edit Their InformationData Security and SharingBackpack Health’s Role In ResearchPatient Advocacy and ResourcesLearn more on Backpack Health’s website and stay updated with them on Twitter, Facebook, and Instagram.Stay tuned for the next new episode of DNA Today on January 4th, 2019. This episode is part 2 of the discussion about the genetic counseling graduate school application process. In part 1 on episode #87 we discussed preparing for applications, how to apply to programs, and general advice. We also surveyed over 50 incoming students to capture more insight. I will be joined by the same panel of guest who are fellow genetic counseling students and we pick up where we left off by discussing the second half of the application process: interview, rank, and match.The show will be shifting to a new release schedule for 2019 by releasing episodes on a monthly basis on the first Friday of every month.See what else I am up to on Twitter, Instagram, Facebook and iTunes. As always it’s great to hear from listeners, so feel free to send your questions and inquiries to info@DNApodcast.com.

#95 Kieger Family on Familial Adenomatous Polyposis

Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome, Familial Adenomatous Polyposis.Familial adenomatous polyposis is a rare, genetic cancer predisposition syndrome caused by a deletion mutation in the APC gene on chromosome 5. By the age of 40, nearly 99% of untreated patients will develop cancer.This is the dark shadow that has lingered over their family since at least 1911, when Mary Regan Baker was seen at Mayo Clinic in Rochester, Minnesota for symptoms of a disorder that would become commonplace in her descendants.Through deeply touching personal stories of love, heartbreak, and hope, Laura’s book, Summer’s Complaint, explores the meaning of family and how tragic loss leads to the remaking of life in the face of a rare genetic mutation.Laura obtained a Bachelor of Arts degree from the University of Minnesota (Twin Cities) and a Master’s degree in Human Development from St. Mary’s University. Dr. Alexander Kieger is a Vascular and Interventional Radiologist at Vascular Institute of Virginia. He graduated from Drake University with a Bachelor of Arts degree in Biochemistry and Cell and Molecular Biology. He obtained his Doctor of Medicine from Northwestern University’s The Feinberg School of Medicine.Enter the GIVEAWAY on Twitter, Facebook, LinkedIn and Instagram to WIN 1 of 10 signed copies of Summer’s Complaint. The giveaway ends on December 14 at midnight eastern time, and winners will be randomly selected. To be eligible for entry you must have a US shipping address. You can enter giveaways on all social media networks, however a maximum of one copy will be awarded to each person.You can also buy the book directly on Amazon. Learn more about the Keiger family on Laura’s website. Stay updated by following Laura on Twitter and Dr. Alexander Kieger on Twitter and Instagram.Stay tuned for the next new episode of DNA Today on December 21st, I interview the CEO/President of Backpack Health, Jim Cavan. Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys.New episodes are released on the first and third Fridays of the month. Can’t wait? There are 94 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

#94 Legend of Sumeria: A Genetics Graphic Novel

Dr. Biju Parekkadan is a Co-Creator and Scientific Director of the hard science graphic novel, Legend of Sumeria. He is a Professor of Biomedical Engineering with a research lab that specializes in cell and genetic engineering. His discoveries have been published in prestigious journals with patented inventions that have led to the foundation of several companies. He received his bachelor’s degree from Rutgers University and a doctorate from the Harvard-MIT Division of Health Sciences and Technology. In 2012, he was recognized by President Obama with an Early Career Award for Scientists and Engineers, the highest honor bestowed upon young researchers in the country. Dr. Parekkadan’s daily work in biotechnology research and education provides a unique perspective in the creation of the viable science behind Legend of Sumeria.This Episode We Discuss:The Premise of Legend of SumeriaInspiration to Start the Graphic NovelAutoimmunity on the Molecular/Genetic LevelConveying Scientific ConceptsThe Current and Future Science Behind Legend of SumeriaGenetic PrivacyFuture of Gene TherapyBioethical Issues Raised in Legend of SumeriaTeam Behind the Graphic NovelBe sure to check out the graphic novel on their stunning website. Follow them on Twitter and Instagram. Don’t forget to enter the giveaway on their Instagram by commenting on the latest picture what you found interesting on this episode. The first five to follow and comment will win a complementary copy of Legend of Sumeria!Stay tuned for the next new episode of DNA Today in two weeks. The date to be determined as the normal release date overlaps with the National Society of Genetic Counselors Annual Conference. New episodes are typically released on the first and third Fridays of the month. Can’t wait? There are over 90 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

#93 Team Telomere

Members from Team Telomere (formerly DC Outreach), a community for telomere biology disorders join me for this episode. This panel includes patient advocate Katie Stevens, Dr. Sharen Savage, and Dr. Suneet Agarwal. They provide information and support services to families worldwide who are affected by these disorders, encourage the medical community’s research in finding causes and effective treatments, and facilitate improved diagnosis by educating medical providers.Katie Stevens is the Executive Director of Team Telomere. Her oldest child, Riley, is affected by a telomere disorder. Katie’s goal is to be an advocate and resource. She is also a member of Global Genes Foundation Alliance Advisory Council and a NORD member leader.Dr. Sharon Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Dr. Savage’s research program in telomere molecular epidemiology incorporates population-based studies of telomere length and disease with genetic studies of telomere biology. She serves as a Medical Advisor for Team Telomere.Dr. Suneet Agarwal completed his M.D. and Ph.D. training at Harvard Medical School. He is currently an Assistant Professor in Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute and Harvard Initiative in RNA Medicine, and Staff Physician in Hematopoietic Cell Transplantation at the Dana-Farber / Boston Children’s Cancer and Blood Disorders Center. Dr. Agarwal's research and clinical work is focused on the mechanisms and treatment of genetic blood disorders. He leads a multi-center bone marrow transplant clinical trial for dyskeratosis congenita, and his lab is working on new therapeutic approaches for telomere diseases. He also serves as a Medical Advisor for Team Telomere.This Episode We DiscussKatie’s Son’s Diagnostic JourneyDyskeratosis Congenita and Telomere Biology DisorderPrevalenceSymptomsAge of OnsetAssociated GenesDiagnosis ProcessTreatmentsLatest ResearchHow Team Telomere Helps Affected FamiliesBecoming a Bone Marrow Donor > BeTheMatch.orgStay tuned for the next new episode of DNA Today on November 2nd, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are over 90 episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

#92 Dr. Erin Young on Pain Genetics

Dr. Erin Young discusses the role genetics play in pain susceptibilities. She is an Assistant Professor of both the School of Nursing and Genetics and Genomic Sciences at the University of Connecticut. Her career has been focused on studying genetic contributions to pain susceptibility, for which she has published numerous papers sharing her findings. She received her BA at Wesleyan College, and her MA and PhD at Kent State University. She also completed two postdoctoral fellowships, at Texas A&M University and the University of Pittsburgh Center for Pain Research.This Episode We DiscussThe Role Genetics Plays in our Experience of PainWhy People have Differences in Pain ResponsesGenes and Pathways Involved in PainEnvironment Factors Affecting Pain SusceptibilitySomatic vs. Visceral Pain BehaviorsPain Mechanisms Behind Inflammatory Bowel Disease (IBD)Animals Models Used and Translating Findings to Human PainOpportunities for Integrating Genetic Analysis into Precision Healthcare InitiativesTo learn more about Dr. Erin Young, check out her profile on UCONN’s InCHIP and School of Nursing website. Dive more into her research explore painresearch.uconn.edu and read one of her publications on the topics we discussed, “Genetic Basis of Pain Variability: Recent Advances”. To stay updated with Dr. Young, check out her LinkedIn and Twitter profiles.Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 90 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

#91 Ellen Matloff on Direct-To-Consumer Genetic Testing

Ellen Matloff is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine.Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court. This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. Ellen is a Forbes.com contributor in the area of genetic counseling, testing, and digital health.As genetic testing became more common and also more complex, she has served as the senior author on several publications since 2010, all documenting errors in the interpretation of genetic test results, from all over the US and Canada. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively. These tools are scalable, affordable, are available to the consumer immediately, and on their own device, and - importantly - when your genetic test results are reclassified, or medical management recommendations change, you receive a text message or email.Disclaimer, I (host Kira Dineen) also work for Ellen at My Gene Counsel as the Communications Lead.On This Episode We Discuss:Defining direct-to-consumer (DTC) testsTypes are available to consumersDifference between medical grade and DTC genetic testsAccuracy of DTC genetic testsWhat to know before choosing a DTC testExamples of when a DTC test may be more appropriate than a medical grade test and vice versaWhy healthcare providers can’t afford to ignore DTC anymorePotential implications of sending a sample to a DTC companyBenefits of signing up for My Gene CounselCheck out My Gene Counsel’s website, Twitter, Facebook and LinkedIn pages for more information.Stay tuned for the next new episode of DNA Today on October 19th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

#90 Erica Ramos on NSGC

Erica Ramos is the 2018 President of the National Society of Genetic Counselors (NSGC). She builds products, programs and strategy in the genomics and genetic counseling arenas with expertise in rare disease and predictive genome sequencing. Erica is currently director and head of Clinical & Business Development for Geisinger National Precision Health.This Episode We Discuss:Elevator Pitch of Genetic CounselingRamos’ Career BackgroundGoal of NSGCRamos’ role as President of NSGCBiggest Challenges in the Genetic Counseling Field2018 NSGC Professional Status SurveyExecutive Summary Available to Public94% of GCs who took part in NSGC’s 2018 professional status survey reported being satisfied with the profession.An average full-time GC earns a salary of $88,000 USD.There are over 4,600 certified GCs in North America, this is an increase of 95% compared to the number just 10 years ago in 2008.There are 43 accredited graduate level training programs in North America.Growth rate of the career between 2016-2026 is 29%, the average for all occupations is 7%.2017 NSGC Member Benefits, Needs and Satisfaction SurveyAnnual NSGC Conference, November 2018 in Atlanta, (See you there!)Resources NSGC ProvidesFindAGeneticCounselor.comAboutGeneticCounselors.comGenetic Counselor and You Webinar SeriesNSGC Podcast Series: Leading Voices in Genetic CounselingNSGC Digital Ambassadors (aka The Gene Pool)Twitter List with all of us listedFor updates from Erica Ramos, follow her on Twitter. And explore some of the resources above that NSGC provides the public.Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 89 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

#89 Dr. Andrew Ury on Electronic Health Records

Dr. Andrew Ury is the CEO and Founder of ActX, one of the leading companies in electronic health record integrated genomic decision support. He previously founded and was CEO of the first commercial electronic medical record company, Practice Partner. He is also the co-founder of one of the leading practice-based research networks, PPrNet. Dr. Ury helped found and was twice the vice-chair of the Electronic Health Record Assoc (EHRA). He is a graduate of Stanford Medical School.This Episode We Discuss:Definition of Electronic Health Records (EHRs)EHRs History, Evolution and FutureDr. Ury’s Perspective as a Founder of the TechnologyCurrent EHR Methods and SystemsActX’s Role in Integrating EHRs in Genomic Decision SupportDirect-To-Consumer (DTC) Genetic TestingFocused vs Broad ScreeningFDA Regulation on DTC Genetic TestingPharmacogenomics and TestingFuture Predictions of Integrated Personalized Medicine and Patients’ RoleWant to learn more about ActX? Check out their website, Facebook page, and Twitter account.Stay tuned for the next new episode of DNA Today on September 21st. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 88 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.