James S. Ware

Sep 17, 2024 | nature.com | James S. Ware

AbstractIn the past decade, genetic testing for cardiac disease has become part of routine clinical care. A genetic diagnosis provides the possibility to clarify risk for relatives. For family planning, a genetic diagnosis provides reproductive options, including prenatal diagnosis and preimplantation genetic testing, that can prevent an affected parent from having a child with the genetic predisposition.

Jul 29, 2024 | nature.com | Caroline Wright |Luke Sharp |Leigh Jackson |Anna Murray |James S. Ware |Heidi Rehm | +1 more

AbstractPenetrance is the probability that an individual with a pathogenic genetic variant develops a specific disease. Knowing the penetrance of variants for monogenic disorders is important for counseling of individuals. Until recently, estimates of penetrance have largely relied on affected individuals and their at-risk family members being clinically referred for genetic testing, a ‘phenotype-first’ approach.