Genetic testing for familial cancer in the US underutilised

10 March 2007

A study presented at a US Society of Gynecologic Oncologists (SGO) conference has reported that many American women at high risk of developing familial cancer syndromes such as familial breast-ovarian cancer and hereditary non-polyposis colorectal cancer (HNPCC) were unaware of their elevated risk, based on family history and genetic testing. Fewer still were said to discuss the implications of a diagnosis of familial cancer syndrome with their healthcare practitioners or genetic counsellors, or to access screening programmes or prophylactic interventions. Of over 2700 women attending mammography screening who completed questionnaires in the Californian study, more than 300 were reportedly found to be at high risk of a familial cancer syndrome - familial breast-ovarian cancer for the vast majority - but of these, fewer than 3% had undergone genetic counselling / testing at the time of the survey. Of note, the high incidence of women reportedly at high risk was no doubt influenced by the setting (a mammography centre); almost half of these high risk women had already had cancer themselves.

Commenting on the research report, SGO president Dr Andrew Berchuck said: "Although genetic testing for gynecologic and other hereditary cancers has been available for over a decade, awareness of this potentially life-saving intervention is woefully inadequate among both physicians and the public" (see press release). Improved awareness of and access to genetic services for high-risk patients is clearly an issue for parts of the US.

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