Genetics in Medicine (journal)

July 26, 2023

International workgroup of geneticists issues CHEK2 guidelines

International workgroup issues additional guidance on how to manage patients who carry inherited CHEK2 gene mutations that put them at a higher risk for cancer.

By Tom Wilemon
May 11, 2021

New clinical guidance issued for people at increased cancer risk due to PALB2 gene variance

The American College of Medical Genetics and Genomics (ACMG) has released important new clinical practice guidance for the surveillance and treatment of patients with a gene variant that puts them at increased risk for cancer.

By Tom Wilemon
April 30, 2020

EHRs, biobanks and Mendelian diseases

Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.

By Leigh MacMillan