Work

How Genetic Variant Libraries Effectively Extend Gene Testing Patents: Implications for Intellectual Property and Good Clinical Care

Year: 2012

Type: editorial

Abstract: 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.

Source: Journal of Clinical Oncology

DOI: 10.1200/jco.2012.42.7757

Authors: Sean McElligott, Robert I. Field, Mirar Bristol-Demeter, Susan M. Domchek, David A. Asch

Institutions: University of Pennsylvania, Drexel University, Hospital of the University of Pennsylvania, Pennsylvania Hospital, Philadelphia VA Medical Center

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Cancer Institute