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Psychological Impact of Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer

From The University of Texas M.D. Anderson Cancer Center; and the University of Texas Health Science Center at Houston School of Public Health, Houston, TX

Address reprint requests to Ellen R. Gritz, PhD, Department of Behavioral Science, University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd 243, Houston, TX 77030-4009; e-mail: egritz{at}mdanderson.org

PURPOSE: This study examines the impact of hereditary nonpolyposis colorectal cancer (HNPCC) genetic test results on psychological outcomes among cancer-affected and -unaffected participants up to 1 year after results disclosure.

PATIENTS AND METHODS: A total of 155 persons completed study measures before HNPCC genetic testing, and at 2 weeks and 6 and 12 months after disclosure of test results.

RESULTS: Mean scores on all outcome measures remained stable and within normal limits for cancer-affected participants, regardless of mutation status. Among unaffected carriers of HNPCC-predisposing mutations, mean depression, state anxiety, and cancer worries scores increased from baseline to 2 weeks postdisclosure and decreased from 2 weeks to 6 months postdisclosure. Among unaffected noncarriers, mean depression and anxiety scores did not differ, but cancer worries scores decreased during the same time period. Affected and unaffected carriers had higher mean test-specific distress scores at 2 weeks postdisclosure compared with noncarriers in their respective groups; scores decreased for affected carriers and all unaffected participants from 2 weeks to 12 months postdisclosure. Classification of participants into high- versus low-distress clusters using mean scores on baseline psychological measures predicted significantly higher or lower follow-up scores, respectively, on depression, state anxiety, quality of life, and test-specific distress measures, regardless of mutation status.

CONCLUSION: Although HNPCC genetic testing does not result in long-term adverse psychological outcomes, unaffected mutation carriers may experience increased distress during the immediate postdisclosure time period. Furthermore, those with higher levels of baseline mood disturbance, lower quality of life, and lower social support may be at risk for both short- and long-term increased distress.

Supported by grant No. R01HG01200, National Human Genome Institute, National Institutes of Health, Bethesda, MD, to E.R.G., principal investigator.

Authors' disclosures of potential conflicts of interest are found at the end of this article.

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