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Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes
  1. J Balmaña,
  2. E M Stoffel,
  3. K M Emmons,
  4. J E Garber,
  5. S Syngal
  1. Population Sciences, Dana-Farber Cancer Institute, Gastroenterology Division, Brigham and Women’s Hospital, Boston, MA, USA
  1. Correspondence to:
 Dr. Sapna Syngal
 Medical Oncology, Dana-Farber Cancer Institute, Smith 209, 44 Binney Street, Boston, MA 02115, USA; ssyngalpartners.org

https://doi.org/10.1136/jmg.2003.012526

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    Genetic testing for predisposition cancer syndromes has been broadly implemented in the clinical setting in the last several years. Some of the most recognisable familial cancer syndromes for which genetic testing is available are hereditary non-polyposis colorectal cancer (HNPCC), familial adenomatous polyposis (FAP), and hereditary breast and ovarian syndrome (HBOS). Genetic testing in these individuals may have relevant medical and psychological implications for them and their families. Whether individuals at risk for hereditary colorectal syndromes such HNPCC or FAP have different motivations and concerns about genetic testing than individuals with HBOS is not known.

    The first studies addressing motivations for genetic testing for cancer predisposition were carried out in the mid 1990s.1–6 These studies were conducted not in people actually undergoing testing but in the general population or among first-degree relatives of individuals with breast, ovarian, or colon cancer. They revealed that willingness to undergo genetic testing was associated with higher perception of cancer risk or of being a gene carrier and that the most common reasons for their stated intent to pursue genetic testing were to learn about one’s children’s risks, be reassured regarding one’s own risk, and a wish to increase screening practices. Concerns about genetic testing included mistrust of test accuracy, worry about losing health insurance, and fear of emotional reactions if the test was positive.

    Despite the high uptake for genetic testing predicted by the above studies, rates of testing were lower than expected when it actually became available for families with HBOS or HNPCC syndromes.7,8 Reported barriers to genetic testing among individuals at risk for HBOS were concerns about losing health insurance, and the belief that test results might not be accurate.7 A low level of education and the presence of depression symptoms, especially among women, were found to be …

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