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 ..read more

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 ..read more

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 ..read more

October: Researchers are still laying the groundwork in the search for therapeutics that target the mechanism for genetic disorders leading to new treatments. On this month’s GenePod, authors of two recently published articles in Genetics in Medicine discuss where trials for such molecules are succeeding and where there is still more research to be done to determine the efficacy and safety of new treatments ..read more

September: Team of experts creates ACMG’s first evidence-based clinical guideline recommending exome or genome sequencing for pediatric patients with congenital anomalies or intellectual disability ..read more

January 2018: Keeping Science from getting lost in translation ..read more

December 2017: Beyond 21, 18 and 13: Broadening applications of Non Invasive Prenatal Screening ..read more

July 2016: The real father of Precision Medicine ..read more

March 2017: Public health and CPT1A variants ..read more

November 2016: Updating “The List” – The ACMG 56 is now the ACMG 59 ..read more