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Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Hereditary Colon Cancer Syndromes


Psychosocial research in cancer genetic counseling and testing focuses on the interest in testing among populations at varying levels of disease risk, psychological outcomes, interpersonal and familial effects, and cultural and community reactions. It also identifies behavioral factors that encourage or impede surveillance and other health behaviors. Data resulting from psychosocial research can guide clinician interactions with patients and may include:

  • Decision-making about risk-reduction interventions, risk assessment, and genetic testing.
  • Evaluation of psychosocial interventions to reduce distress and/or other negative sequelae related to risk notification of genetic testing.
  • Resolution of ethical concerns.

This section of the summary will focus on psychosocial aspects of genetic counseling and testing for Lynch syndrome (LS), familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), and familial colorectal cancer (CRC), including issues surrounding medical screening, risk-reducing surgery, and chemoprevention for these syndromes.

Interest in Genetic Counseling and Testing for Hereditary CRC in the General Population and High-Risk Families

Interest in genetic counseling and testing in the general population

Interest in genetic counseling and testing for hereditary CRC has been highest in studies involving general population samples (see Tables 13 and 14). Initial random-digit-dial surveys that addressed this topic [1,2,3] showed that more than 80% of respondents indicated at least some interest in having a genetic test for hereditary CRC, and 40% to 47% indicated that they would be very interested. One study [3] reported that interest in genetic testing decreased from 81% to 67% when respondents were informed that only 1% of the population was estimated to inherit a CRC–predisposing gene. A 2002 study that evaluated the participant's intention to have a genetic test within a specific time frame (e.g., within the next month and within the next 6 months) found substantially lower levels of interest.[4] Perceived risk of developing CRC was independently associated with greater interest in genetic testing across all studies. Other independent variables that were positively correlated with testing interest across studies included income, cancer worry, perceived benefits of testing, dispositional optimism and pessimism, and the perception that cancer runs in one's family; perceived barriers of testing were negatively correlated with testing interest.

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