Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders

Autor: Natasha Bonhomme, Kaylene Ready, J. Leonard Lichtenfeld, Katherine Johansen Taber
Rok vydání: 2018
Předmět:
Zdroj: Genetics in Medicine
ISSN: 1530-0366
Popis: Several studies clearly demonstrate increased cancer risks associated with pathogenic variants in certain genes. BRCA1 and BRCA2 are perhaps the best known, but many other genes have been associated with increased cancer risks, including but not limited to TP53, PTEN, CDH1, PALB2, MLH1, MSH2, MSH6, ATM, STK11, CHEK2, BRIP1, RAD51C, and RAD51D. National Comprehensive Cancer Network guidelines include management recommendations for patients carrying pathogenic variants in these genes. Both tumor/site-specific and “pan-cancer” panels are available to identify patients at increased risk. Both types of panels have the advantage of addressing syndrome heterogeneity and overlap and are less costly than testing each gene independently. Multigene panels also generate a higher rate of pathogenic findings than testing single or a few genes at a time; however, they generate a higher rate of variants of uncertain significance (VUS).1 Despite the potential utility of hereditary cancer panels,2 access to this testing is limited by insurance coverage challenges, including inconsistent or nonexistent coverage policies, preauthorization burdens, and pretest counseling requirements. In November 2017, expert stakeholders from laboratories, patient advocacy organizations, professional societies, and health-care provider organizations were convened by Genetic Alliance (Washington, DC) to identify mechanisms to address these barriers. Participants and their affiliations are listed in the Acknowledgements. Dialogue, shared experiences, and varied perspectives among participants informed a roundtable discussion of several tactics to address insurance-related challenges, resulting in a number of consensus recommendations. Given the real or perceived conflicts of interest of each participant with respect to multigene panel testing, the roundtable was designed to serve as a beginning to a broader conversation. A key recommendation was the formation of a coalition of diverse stakeholders that can work together toward a shared goal of improved patient access to hereditary cancer testing.
Databáze: OpenAIRE