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Genetics in Medicine
Genetics in Medicine episodes
- Genetics in Medicine: February 2022February: 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.0 min
- Genetics in Medicine: January 2022January: 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.0 min
- Genetics in Medicine: December 2021December: 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”.0 min
- Genetics in Medicine: November 2021November: 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.0 min
- Genetics in Medicine: September 2021September: Team of experts creates ACMG’s first evidence-based clinical guideline recommending exome or genome sequencing for pediatric patients with congenital anomalies or intellectual disability0 min
- Genetics in Medicine: August 2021August: Diagnosing the undiagnosed: Genetic testing identifies the underlying causes of kidney disease0 min
- Genetics in Medicine: July 2021July: Artificial intelligence may provide a timely diagnosis for Fragile X syndrome0 min
- Genetics in Medicine: June 2021June: Universal newborn screening to identify pediatric cancer predisposition – could it work?0 min
- Genetics in Medicine: May 2021May: The implementation of clinical genomic DNA methylation testing in patients with rare disorders0 min
- Genetics in Medicine: April 2021April: Increasing access to genomic medicine in diverse communities: What shapes Latinx perspectives on health care incorporating genomics?0 min
About Genetics in Medicine
From the publisher's feed
Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal's mission is to enhance the knowledge, understanding, and practice of medical…
genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. As genetics and genomics continue to increase in importance and relevance in medical practice, the journal will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to all medical providers through appropriate original research, reviews, commentaries, standards, and guidelines. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.