Communication of genetic test results to family and health-care providers following disclosure of research results.

PURPOSE: Few studies have examined methods to promote communication following the return of DNA mismatch repair genetic test results obtained during research. The purpose of the present study was to evaluate a telephone protocol for returning research results of DNA mismatch repair gene testing to identify Lynch syndrome. METHODS: We invited individuals with known DNA mismatch repair mutations in their family, who were enrolled in the Colon Cancer Family Registry at the Mayo Clinic, to participate in this study. Participants completed surveys before and 6 months after DNA mismatch repair test result disclosure. RESULTS: Among 107 participants, 79% opted to learn their DNA mismatch repair test results; of these, 44 (41%) carried DNA mismatch repair mutations. After disclosure, 54% reported screening for any type of cancer. Among carriers, >74% reported communicating results to family; communication was predicted by baseline confidence in coping with the genetic test result (Z = 1.97; P = 0.04). Result disclosure to a physician was predicted by greater perceived cancer risk (Z = 2.08; P = 0.03) and greater intention to share results with family (Z = 3.07; P = 0.002). CONCLUSION: Research versus clinically based gene disclosure presents challenges. A telephone disclosure process for the return of research-based results among Lynch syndrome families led to high rates of result uptake and participant communication of results to providers and family members.

Colorectal cancer risks in relatives of young-onset cases: is risk the same across all first-degree relatives?

BACKGROUND & AIMS: During the last 15 years, several single-gene mendelian disorders have been discovered that might account for some of the familial aggregation detected in large population studies of colorectal cancer (CRC). Mutations in DNA mismatch repair (MMR) genes cause hereditary nonpolyposis colorectal cancer-Lynch syndrome, the most common of the recognized CRC-predisposition syndromes, in which one major feature is a young age for cancer onset. However, for young-onset microsatellite stable (MSS) CRC, the familial risk for CRC is unknown. METHODS: Patients with CRC who were <50 years old were identified through Minnesota Cancer Surveillance System (MCSS) and Mayo Clinic, Rochester, MN. CRCs in which the DNA MMR function was deficient as evidenced by high level microsatellite instability and/or loss of expression of MMR gene product by immunostaining were excluded. A total of 278 probands (131 from MCSS; 147 from Mayo Clinic) were included. Data on 1862 relatives were collected, of whom 68 were found to have had CRC, and an additional 165 had primary cancers of other types. RESULTS: Compared with Surveillance Epidemiology and End Results program data, relatives of young-onset CRC probands had increased risks for CRC. This relative risk (RR) was increased among first-degree relatives (RR, 1.65; 95% confidence interval [CI], 1.29-2.07) and was greater for siblings (RR, 2.67; 95% CI, 1.50-4.41) than parents (RR, 1.5; 95% CI, 1.14-1.94). CONCLUSIONS: We studied 278 probands with young-onset MSS CRC. We determined that the RR for CRC was greatest in siblings, which is consistent with an autosomal recessive inheritance pattern.

Receptivity and Preferences in Cancer Risk Reduction Lifestyle Programs: A Survey of Colorectal Cancer Family Members.

BACKGROUND: Cancer is a shared family experience, and thus the purpose of this study was to assess receptivity and preferences for cancer risk reduction programs among at-risk family members with two or more relatives affected with colorectal cancer (CRC). METHODS: The sample comprised 401 at-risk family members with two or more relatives affected with CRC from the Colon Cancer Family Registry. In March 2009, respondents completed a mailed survey assessing receptivity and preferences for participating in cancer risk reduction programs and evaluated their relationship to demographic, medical, and psychosocial variables. Multivariable generalized estimating equation approaches were used to model preferences. RESULTS: Overall, 81% of respondents were receptive to a lifestyle cancer risk reduction program; of these, about half (54%) preferred to participate with their family. Program preferences included: weight management (36%) and nutrition (31%); delivered through the internet (41%) or mail (39%). In a multivariate model, a greater level of concern about cancer (p<0.001), female gender (p=0.002), and higher education (p=0.016) were significantly correlated with willingness to participate in lifestyle programs. CONCLUSIONS: Family members of those with CRC are receptive to cancer risk reduction programs that focus on weight management and nutrition delivered via the internet or mail. Future research is needed to determine how best to incorporate a family-based approach that addresses the cancer experience when designing lifestyle intervention programs.