How genetic variant libraries effectively extend gene testing patents: Implications for intellectual property and good clinical care

摘要

Genetic testing for inherited cancer susceptibility is an increasingly valuable tool in medical oncology. The identification of mutations in the BRCA1 and BRCA2 genes, for example, leads to specific clinical recommendations for screening or surgery that can improve survival.1 However, genetic testing can also identify variants of uncertain significance (VUS), changes in the genetic code that have an unknown effect on disease risk. Roughly 7% of women tested for BRCA1 and BRCA2 have one of these variants.2 Test results with VUS increase, rather than decrease, uncertainty for the patient in a situation with particularly high stakes and present a challenge to the clinician in devising appropriate responses.