Afleveringen
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February: Matchmaking is an increasingly important strategy to help link rare diseases to genetic variants. These tools allow clinicians and researchers to search across previously siloed databases, clinics, and laboratories and access data about the potential genetic underpinnings of undiagnosed rare diseases across international boundaries. But to date there hasn’t been much research on the user experience.
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January: When it comes to breast cancer, Non-Hispanic Black women have a 40% higher mortality rate than Non-Hispanic White women. Additionally, Non-Hispanic Black women have dramatically lower rates of uptake of genetic testing and then, if testing finds variants that would warrant such actions, undergoing prophylactic preventative surgeries.
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Zijn er afleveringen die ontbreken?
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December: As cardiovascular disease has many known genetic components, a team of researchers at Baylor College of Medicine created a panel of genes associated with cardiovascular disease they call HeartCare. David Murdock, previously the assistant director of the clinical lab at Baylor College of Medicine’s Human Genome Sequencing Center and now a lab director at Invitae, states “we thought that by looking at genetic causes of cardiovascular disease in an adult population, that could really help us to push forward genetic testing in adults in general”.
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November: Polygenic risk scores (PRS) can be an important tool in breast cancer patients to help stratify individuals into levels of disease risk. The clinical utility of PRS is still being evaluated, but what hasn't yet been evaluated is how to communicate such results to patients, and how they respond to their PRS scores.
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December 2013: Celebrities, Genetics and Tough Decisions: the Angelina Effect.
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March 2014: Patients' families aid in discovery of new genetic disorder.
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August 2014: Vascular EDS: Data You Can Use.
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September 2014: The Use of Gene Panels in Diagnostic Next Generation Sequencing.
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October 2014: Genomic Screening for BRCA mutations and beyond: The promise and peril.
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November 2014: Genetic knowledge in primary care: still lacking after all these years.
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December 2014: ACMG revises approach to secondary findings.
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January 2015: Measuring harm in direct-to-consumer genetic testing.
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February 2015: Promise and Challenges in Non-invasive Prenatal Testing.
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March 2015: Consanguinity as both a challenge and opportunity in genetics and genomics.
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April 2015: Seeing Retinal Disease More Clearly through a Genomic Lens.
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May 2015: Pharamacogenomics...will it ever live up to its promise?
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June 2015: Ethnically targeted screening: experience and controversies.
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July 2015: The Potential Utility of Genomics for Adoptees.
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August 2015: The Market for Consumers' Genetic Information.
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September 2015: Time and effort to practice medical genetics: an expanding challenge.
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