The Geisinger National Precision Health Initiative ended in 2019 but its leaders joined Genome Medical to bring genomics-informed care to other health systems.
Geisinger and UPenn researchers found that Titin truncations revealed by exome sequencing increased DCM risk in those with European but not with African ancestry.
The firm has developed a digital platform that determines whether patients meet guidelines for genetic testing, and if so, what test they should receive.
At the AGBT meeting last night, Johns Hopkins researcher Joshua Cohen said that the partners are looking to recruit 50,000 healthy individuals for the study.
Among the firms presenting, 10x noted that it doubled its revenue growth in 2018, and Myriad discussed the impact that new tests are having on its growth.
Genetic counselors, laboratories, and patients themselves have roles to play in reclassifying gene variants, including variants of uncertain significance.
The chatbot developed with Clear Genetics follows up with patients after genetic testing and educates family members at risk for inheriting the same mutations.
Researchers found cancer risk variants in individuals who did not meet criteria for testing, and testing led to early cancer detection in several cases.
Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.
