Grey: Genetic Counselors ‘Unsure,’ Guidelines Needed on CHEK2 Mutations

By Purnell T. Cropper | October 22, 2010

A study identifies “the need for clinical guidelines regarding treatment and testing for carriers of CHEK2 mutations, according to as poster abstract by Becky Grey, Arcadia Univeristy Genetic Counseling student, at the National Society of GeneticCounselors’ (NSGC). Genetic Counselors’ Utilization of CHEK2 Testing was authored by B. Grey1,2, Z. Ali-Khan Catts2, K. Spitzer-Kim1. (1Arcadia University, 2Christiana Care Health Systems).

“Mutations in CHEK2 appear to confer an increased risk for breast cancer as well as other cancers. The lifetime risk for breast cancer in carriers of CHEK2 mutations is between 16 and 57%. Unlike other cancer susceptibility genes, guidelines to help determine when to offer testing for CHEK2 mutations are not yet available. This study used a survey to evaluate the utilization of this testing by cancer genetic counselors.

“Survey questions focused on indications for testing, methods used, management guidelines provided, and scenarios to determine which factors influence genetic counselors’ decisions to test for CHEK2 mutations. The survey was distributed online to members of the cancer sig listserv, general listserv of the National Society of Genetic Counselors (NSGC), and on paper at the NSGC Annual Education Meeting in November 2009.

“Seventy-four cancer genetic counselors responded to the survey, giving a response rate of approximately 24%. The majority of counselors (72.2%) never offer testing for CHEK2 mutations. Factors that appeared to be associated with offering testing included more work experience, greater patient load, practicing in a community institution and working in Region 3. Counselors were deterred from testing due to a lack of guidelines for both testing (69.4%) and clinical management (79.0%).

“In the responses to the scenarios, the majority of counselors would offer testing to a female with bilateral breast cancer or a male with breast cancer (22.8%). Many counselors responded ‘unsure’ regarding whether they would offer testing in the different scenarios (between 23% and 33%). This study emphasizes the need for clinical guidelines regarding treatment and testing for carriers of CHEK2 mutations.”