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GenePod: GIM's Podcast

GenePod is the podcast from the journal Genetics in Medicine. Join us as host Cynthia Graber delves into the latest research in medical genetics and genomics, featuring content from this leading journal.

 

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

December 2017: Beyond 21, 18 and 13: Broadening applications of Non Invasive Prenatal Screening.
Non-invasive prenatal screening, or NIPS, has become a standard technique for screening pregnancies for the possibility of the three most common aneuploidies, trisomies, 21, 18, and 13. In this month’s edition of GenePod, GIM’s monthly podcast, GenePod editor Cynthia Graber explores broadening applications for this technology with the author of a recent GIM article on this topic, Diane Van Opstal. Listen as Dr. Van Opstal discusses her groups’ results from whole genome NIPS of 2500 pregnant women, with a special focus on clinically relevant findings. (Related Article) Download (.mp3)

November 2017: New Estimates of the Penetrance of Hemochromatosis: Time to re-think screening?
A recent study published in Genetics in Medicine readdresses the issue of the penetrance of hemochromatosis. Grosse et al. re-evaluated existing data, finding strong evidence that the true penetrance of this disorder is higher than previously thought and likely to exhibit ~10% lifetime penetrance of serious complications such as liver disease. Listen to GenePod, GIM’s monthly podcast for an exploration of this paper, an accompanying commentary and a discussion of the issue of whether we should readdress the potential utility of screening at least a segment of the population for this highly preventable condition. (Related Articles: one and two) Download (.mp3)

October 2017: Diversity in Genomics...Necessary for All of Us.
Given that we’re all a bit different, broad diversity of data is critical to understanding genomics. Yet, interpreting the genomes of individuals from populations that are not of Western European descent remains challenging. Listen to GenePod, Genetics in Medicine’s monthly podcast for an exploration of the lack of diversity in modern genomic databases and how that adversely impacts the interpretation of variants when sequencing is pursued for medical indications. (Related Articles: one and two) Download (.mp3)

September 2017: Moving therapeutics ahead in Genomics: response to imatinib in infantile myofibromatosis.
Those who practice Medical Genetics have increasingly powerful diagnostic tools at their command. But what patients (and all of us) really want is effective therapy. Read about beneficial treatment of infantile myofibromatosis with imatinib in GIM and listen to GenePod; GIM’s monthly podcast for an exploration of this exciting finding and an interview with the author. (Related Article) Download (.mp3)

August 2017: Extending Whole Exome Sequencing to the prenatal period.
The application of whole exome sequencing has proven a powerful diagnostic tool in children and adults. This month’s GenePod explores the use of WES in the prenatal period to diagnose the reasons for fetal death. Such investigations promise a new understanding of fetal development and will increasingly guide parental decisions. (Related Article) Download (.mp3)

July 2017: Making sense of a deluge of variants: harnessing the power of community.
A central challenge of genomic medicine today (and for the foreseeable future) is how to best understand the vast amounts of human variation that we are now routinely uncovering. The stakes are high, as only if we learn to do this will genomics fully benefit our patients and populations. In this month’s GenePod, GIM’s monthly podcast, Cynthia Graber features several articles recently published in GIM that point to strategies and mechanisms for rising to this challenge. Central to successful efforts will be learning to function as a true community, with open communication and wide sharing of data. We all have our parts to play, from journals and laboratories to payers and clinicians. (Related Articles: onetwothreefour) Download (.mp3)

June 2017: Prenatal exome sequencing. (Related Articles: one and two) Download (.mp3)

May 2017: Whole Exome Sequencing...the right, cost effective test in the right clinical situation.
Subscribe to GenePod, GIM’s monthly podcast and listen to May’s edition in which we explore a study showing that early ordering of Whole Exome Sequencing is not only the right test in children with suspected Mendelian disorders…but that its early use in the diagnostic process is cost effective when compared with “usual care”. This an important message for providers as well as for payers. (Related Article) Download (.mp3)

April 2017: NIPS in the Real World.
NIPS has taken the OB world by storm. But studies of its implementation have largely been in the rarified sphere of academia. This month’s GenePod, GIM’s monthly podcast, highlights an article recently published in GIM, in which Palomaki and colleagues studied the provision of this technology in five Rhode Island practices that see large numbers of obstetric patients. (Related Article) Download (.mp3)

March 2017: Public health and CPT1A variants.
Certain variants in CPT1A, a critical gene involved in mitochondrial energy production, have been reliably associated with sudden death in infancy and childhood. However, data are weaker for one particular variant, P469L, found at high frequencies in certain populations. Listen to GenePod, GIM’s monthly podcast for an exploration of the public health implications of screening for this variant. Featured in this podcast is an interview with Alison Fohner, a genetic epidemiologist at Stanford University who recently published an examination of pertinent data in Genetics in Medicine. (Related Article) Download (.mp3)

February 2017: Screening the Ashkenazi Jewish population for BRCA mutations.
About 2% of the Ashkenazi Jewish population harbors one of three founder mutations in BRCA1 or BRCA2. Given the relative ease of testing for these variants, the dire implications that such a mutation can have on health of an individual or family and the availability of effective preventive modalities, a strong case can be made for population based screening of such variants among those of Ashkenazi descent. In this issue of GenePod, Cynthia Graber discusses  two recent articles published in Genetics in Medicine with author Ephrat Levy-Lahad that address a pilot program carried out in Israel to test the feasibility and results of such screening.  (Related Articles: one and two) Download (.mp3)

January 2017: The cost and burden of rare diseases.
Getting a handle on the costs and burden of rare diseases is difficult because…well, the diseases are rare. In this month’s GenePod, the official podcast of Genetics in Medicine, GenePod editor, Cynthia Graber, explores a study recently published in GIM which assesses the burden of rare diseases in Australia, using innovative techniques that are applicable globally. Authors Walker and Valdez are interviewed regarding this important study.  While such disorders are individually rare, in aggregate they account for substantial burden on the health and healthcare resources of populations worldwide, making such data crucial for everyone from individual providers to those charged with designing efficient healthcare systems at the national level. (Related Articles: one and two) Download (.mp3)