134 episodes

Genepod is the podcast from the journal Genetics in Medicine, produced in association with Nature Publishing Group. Join us as we delve into the latest research in medical genetics and genomics, featuring highlighted content from this leading journal.

Genepod Genetics in Medicine

    • Science
    • 4.4 • 11 Ratings

Genepod is the podcast from the journal Genetics in Medicine, produced in association with Nature Publishing Group. Join us as we delve into the latest research in medical genetics and genomics, featuring highlighted content from this leading journal.

    Increasing access to genomic medicine in diverse communities: What shapes Latinx perspectives on health care incorporating genomics?

    Increasing access to genomic medicine in diverse communities: What shapes Latinx perspectives on health care incorporating genomics?

    A lack of research on how diverse communities experience genomic medicine and integrate genetic knowledge into their understanding of and decision making around health care has led to disparities in access and utilization of genomic medicine among minority populations. “The data that's been available historically all points in the direction of suggesting that there's going to be substantial hesitance among patients in taking up new forms of genetic testing and that hesitance is rooted in historical worries”, states Dr. Richard Sharp, director of the Biomedical Ethics Research Program at the Mayo Clinic in Rochester, Minnesota. On this month’s GenePod, Dr. Sharp and Valentina Hernandez, director of integrated nutrition services and collaborative research for Mountain Park Health Center discuss the results of a survey of both Latinx and non-Latinx patients that assessed their decision to pursue genomic risk evaluation in an effort to address this research gap.
     
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    • 9 min
    Turning principles into policy: Combating systemic racism in genetics and genomics publications

    Turning principles into policy: Combating systemic racism in genetics and genomics publications

    The field of medical genetics and genomics has a complex and troubling history vis-a-vis racist ideologies—Carl Linnaeus divided humanity into four “varieties” and Charles Darwin saw humans as genetically distinct races. And, although the field has come a long way since its beginnings, systemic racism lingers in its institutions and practices. On this month’s GenePod, Genetics in Medicine editors Kyle Brothers, MD, PhD, Robin Bennett, MS, CGC, and Mildred Cho, PhD, discuss the work that must be done to start addressing the eradication of systemic racism from scientific publishing. The authors propose eight principles that are both scientifically grounded and anti-racist in an effort to provide a foundation for enlightened policy development by publishers and editorial boards in genetics and genomics.  
     
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    • 10 min
    Targeted exome sequencing for second-tier newborn screening tests: technology to scale

    Targeted exome sequencing for second-tier newborn screening tests: technology to scale

    In newborn screening tests, after a first-tier abnormal screening result, single gene or multi-gene testing panels are often utilized as second- or third-tier tests. However, the technologies typically employed today do not scale well and this is a real problem for the high-volume rapid throughput nature of newborn screening labs. On this month’s GenePod, Drs. Nicole Ruiz-Shultz and Andreas Rohrwasser of the Utah Public Health Laboratory discuss how they tested targeted exome sequencing, which focuses analysis on the most relevant subset of genes. 
     
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    • 5 min
    Is newborn screening for metachromatic leukodystrophy coming soon?

    Is newborn screening for metachromatic leukodystrophy coming soon?

    While newborn screening is gradually expanding in many states in the U.S. and other countries to include some members of a class of diseases known as lysosomal storage diseases (LSD), there has yet to be a screening test available for one LSD called metachromatic leukodystrophy (MLD). MLD is a rare neurogenetic condition that is often fatal and there is currently no widely available approved treatment. However, there are a number of promising therapies under development in ongoing clinical trials. Michael H. Gelb, PhD, professor of chemistry and biochemistry at the University of Washington, recently turned his attention to developing a newborn screening test for MLD, which he discusses on this month’s GenePod. Based on the results of more than 27,000 newborns screened for this study, Dr. Gelb believes that a newborn screening test for MLD, upon completion of a second unblinded prospective study, could soon become part of the Federal Recommended Uniform Screening Panel.
     
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    • 5 min
    Elamipretide: A treatment for Barth syndrome

    Elamipretide: A treatment for Barth syndrome

    Barth syndrome, an exceedingly rare genetic condition that affects only males, causes heart disease and immune deficiencies–and there’s no known treatment that addresses the cause of the disease. On this month’s GenePod, Hilary Vernon, MD, PhD, associate professor of genetic medicine at Johns Hopkins University School of Medicine, describes a study of elamipretide, a compound already under clinical investigation that, based on its effectiveness in targeting mitochondria, she and her colleagues thought might help their Barth syndrome patients. Based on the results of the study, Dr. Vernon says elamipretide could become the primary treatment for Barth syndrome.
     
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    • 5 min
    Exploring a genotype-first approach for genetic variants that influence cardiac diseases

    Exploring a genotype-first approach for genetic variants that influence cardiac diseases

    Could genome sequencing be used to prospectively identify people at high risk for having a genetic disorder? And, could this enable early multidisciplinary care and avoid life-threatening events? On this month’s GenePod, Bruce D. Gelb, MD, director of the Mindich Child Health and Development Institute at Mount Sinai’s Icahn School of Medicine, describes the genotype-first approach his team took. Dr. Gelb and his team used biobanks to identify individuals with variants likely causing heart conditions associated with RASopathies or Marfan syndrome. The team then went to the electronic health records of those individuals to determine if they had been diagnosed; many had not! Furthermore, identifying individuals by genotype first yielded new insights into their phenotypes.
     
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    • 10 min

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11 Ratings

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