GenePod: GIM's Podcast

Tune in here for the below episodes:  iTunes,  Google Podcasts, Overcast, RSS Feed, or SoundCloud.

December: What’s holding clinicians back from recommending genetic testing for Parkinson's disease patients?
A precision medicine approach has advanced the development of new cancer therapies and researchers who study neurodegenerative diseases would like to replicate that model. Yet, few neurologists recommend genetic testing to patients with neurodegenerative disorders such as Parkinson’s disease. Dr. Roy Alcalay, a neurologist and associate professor at Columbia University Irving Medical Center, and colleagues wanted to discover what’s holding them back. In a recent study published in GIM, the team conducted a survey to identify what barriers exist for movement disorder specialists in the US and Canada. Tune in to this month’s GenePod to find out how knowledge gaps, insurance coverage questions and attitudes toward therapeutic approaches contribute to clinicians’ hesitancy to recommend genetic testing for neurodegenerative disease patients. (Related Article) Download (.mp3)

November: RNA sequencing improves diagnostic rate for rare disease patients.
Although genetic sequencing has aided the diagnosis of many genetic diseases, only about one third of children with unknown or rare genetic diseases end up with a diagnosis after exome sequencing. To help these patients, Stanley Nelson, professor of human genetics at the David Geffen School of Medicine at UCLA, wanted to explore the genome more effectively. In a recent publication in GIM, Dr. Nelson and team show RNA sequencing helped to solve an additional 15% of cases that genome sequencing alone couldn't. On this month's podcast, Dr. Nelson and host Cynthia Graber discuss how transcriptome sequencing may be able to shorten the diagnostic odyssey for some rare disease patients and whether insurance companies should pay for the testing. (Related Article) Download (.mp3)

October: Variants on the corresponding allele may explain atypical clinical features in patients with 22q deletion syndrome. 
One of the most common chromosomal deletions in humans happens on chromosome 22. It’s known as 22q and affects as many as one in 2,000 live births. People with the deletion can present with a wide variety of traits. Some have heart defects. Others have defects in the palate, while still others have developmental delays. But in 2005, Donna McDonald-McGinn, director of the 22Q and You Center at the Children’s Hospital of Philadelphia and clinical professor at the University of Pennsylvania, noticed some patients had rare, atypical clinical features such as limb differences and rectal malformations. Now, in a recent publication in GIM, she and an international team of scientists reveal variants in a gene called CDC45 on the non-deleted chromosome are responsible for the unusual traits. The 22q deletion had unmasked the effects of the CDC45 variants. On this month’s GenePod podcast, Dr. McDonald-McGinn and host Cynthia Graber chat about how this unmasking phenomenon may be responsible for other conditions as well. (Related Article). Downlaod (.mp3)

September: Genotyping aids medication decisions and benefits heart procedure patients: pharmacogenomics in action.
Every year more than half a million people in the US have stents placed in narrow blood vessels to improve blood flow to the heart. Following the procedure, patients typically need treatment with anti-clotting drugs. The go-to medication is clopidogrel, a prodrug that requires activation by an enzyme called CYP2C19. However, about a third of patients carry variants that render CYP2C19 ineffective. These patients are at increased risk for future heart attacks, strokes and other cardiovascular events. Prasugrel and ticagrelor are examples of alternative anti-clotting medications, but these therapies have been shown to have higher bleeding rates and are typically more expensive than clopidogrel. In clinical practice, switching between clopidogrel and either prasugrel or ticagrelor has become common. In a recent study published in GIM, researchers demonstrate how using CYP2C19 genotyping to guide medication decisions can benefit patients. GenePod host Cynthia Graber chats with the study’s lead author, Dr. Craig Lee, about the work on this month’s podcast. Have a listen! (Related Article). Download (.mp3)

August: Creating a framework to assess resource needs for genetic services.
As the appetite for clinical genetic testing grows, it seems the demand for geneticists able to provide the needed services outpaces the supply. Yet health services do not have a way to measure that growth or the resources needed to provide those services. In a recent study published in GIM, researchers describe a new framework for evaluating the resource needs of clinical genetics services, including recent huge increases in genetic testing and the accompanying counseling. In the August Genepod, host Cynthia Graber talks with lead study author Andrew Fennell about the new framework, its current limitations and how clinicians can use it now to plan for the future. Have a listen! (Related Article). Download (.mp3)

July: Testing guidelines for neurodevelopmental disorders – time for an update?
Nearly a third of neurodevelopmental disorders are thought to have a genetic basis and the most recent ACMG guidelines, from 2010, recommend Chromosomal Microarray (CMA) and fragile X testing as first tier genetic tests. In a recent study published in GIM, Srivastava et al carried out a meta-analysis of 30 papers published since those guidelines were issued and determined exome sequencing had a significantly higher diagnostic yield than these previous testing standards. In this month’s GenePod, Cynthia Graber talks to Mustafa Sahin, senior author of the study, about the authors’ hopes that the increased diagnostic yield will lead to exome sequencing being more widely accepted as the first line testing. The authors are also hopeful that having a molecular diagnosis might result in potentially actionable treatments for some patients. (Related Article). Download (.mp3)

June: Weighing the costs, benefits and cost-effectiveness of population-wide genomic screening.
Direct-to-consumer genetic/genomic testing is rising in popularity and at the same time research shows medical genetic testing targeting only at-risk populations might miss people who can benefit from testing. In a recent study published in GIM, researchers considered the pros and cons of offering genomic screening to all young adults in a single-payer healthcare system. They found the screening was highly cost-effective and would reduce cancer deaths by more than 30 percent.  There are many caveats to implementation of such an approach, however. In June's GenePod, host Cynthia Graber talks with study author Dr. Paul Lacaze about the research and the ethical implications of offering population-wide genomic screening. Have a listen! (Related Article). Download (.mp3)

May: Improving non-invasive prenatal screening tests.
In a recent study published in GIM, researchers assessed an expanded non-invasive prenatal screening test on 94,000 women and found the predictive value for DiGeorge Syndrome was higher than that of current screens. In this month’s episode of GIM’s GenePod podcast, host Cynthia Graber talks with study author Dr. Desheng Liang about how the new screen might improve upon current widely available screening tests by having a higher detection rate of clinically significant fetal chromosome abnormalities. They also discuss how the implementation of expanded screening could stretch genetic counseling resources and touch on other potential concerns. Have a listen! (Related Article). Download (.mp3)

April: Increasing demand and workforce shortages impact access to genetic services.
In a recent article in Genetics in Medicine (GIM), Maiese et al. reported the findings of a survey of the practices of 924 genetics professionals. Compared to data collected a decade ago, the authors found increased caseloads for practitioners and longer wait times for patients seeking genetic services. In this month's episode of GenePod, GIM's monthly podcast, host Cynthia Graber talks with co-authors Deborah Maiese, evaluator for the National Coordinating Center for the Regional Genetics Networks, and Dr. Michael Watson, executive director of the American College of Medical Genetics and Genomics, about strategies to address shortages in the medical genetics workforce and how technology is being used to improve access to genetic services for underserved populations. (Related Article). Download (.mp3)

March: Measuring the cost of genetic disorders in hospitalized children. 
Little is known about the prevalence and economic impact of genetic disorders in children. In this month's episode of GenePod, Cynthia Graber interviews Dr. Nina Gonzaludo about the prevalence of genetic disorders in a large population of hospitalized children. Dr. Gonzaludo discusses the disproportionate use of healthcare resources by patients likely to have genetic disorders and the possibility that genetic testing might reduce the cost to the healthcare system. (Related Article). Download (.mp3)

February: Prenatal and preimplantation genetic diagnosis for Huntington disease in the UK.
In a recent article in Genetics in Medicine, Piña-Aguilar et al. report that the use of prenatal diagnosis by couples at risk for Huntington disease in the UK has remained fairly constant over time. In contrast, the use of preimplantation genetic diagnosis is rising. In this month’s episode of GenePod, GIM’s monthly podcast, Cynthia Graber and Dr. Zosia Miedzybrodzka, professor of medical genetics at the University of Aberdeen and coauthor of the GIM article, discuss what these data suggest about the preferences of prospective parents and what they might mean for health service policies. (Related Article). Download (.mp3)

January: New approaches help to further unravel the genetic etiologies of autism.
Substantial progress has been made over the years in understanding genetic factors involved in autism, but many questions remain. Genome sequencing has emerged as the preferred methodology for evaluating patients because it permits a more comprehensive investigation of risk variants than has been possible with previous technologies. Tune in to the newest episode of GenePod, GIM’s monthly podcast, for an interview with Evan Eichler, PhD, professor of genome sciences at the University of Washington and senior author of a recent study in Genetics in Medicine. Dr. Eichler describes the correlation between multiple risk variants and phenotype in patients with autism and discusses what these findings mean for research and clinical practice. (Related Article). Download (.mp3)