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Referral for cancer genetics consultation: a review and compilation of risk assessment criteria


Background: There have been many papers on the diagnostic criteria for specific hereditary cancer susceptibility syndromes and the likelihood that an individual has a germline mutation in one of the various cancer susceptibility genes. To assist health care professionals in deciding when a cancer genetics consultation is appropriate, available reports were critically reviewed in order to develop a single set of risk assessment criteria.

Methods: The criteria were based on a comprehensive review of publications describing diagnostic criteria for hereditary cancer syndromes and risk to first degree relatives of cancer patients. Priority was given to diagnostic criteria from consensus statements (for example, those from the National Comprehensive Cancer Network). Expert opinion from study personnel was then used to adopt a single set of criteria from other publications whenever guidelines differed.

Results: Based on family history, a set of criteria was developed to identify patients at risk for a hereditary cancer susceptibility syndrome, patients with moderate risk who might benefit from increased cancer surveillance, and patients who are at average risk. The criteria were applied to 4360 individuals who provided their cancer family history between July 1999 and April 2002, using a touch screen computer system in the lobby of a comprehensive cancer centre. They categorised an acceptable number of users into each risk level: 14.9% high risk, 13.7% moderate risk, and 59.6% average risk; 11.8% provided insufficient information for risk assessment.

Conclusions: These criteria should improve ease of referral and promote consistency across centres when evaluating patients for referral to cancer genetics specialists.

  • family history
  • risk assessment
  • cancer
  • heredity
  • CRC, colorectal cancer
  • FDR, first degree relative
  • HBOC, hereditary breast and/or ovarian cancer syndrome
  • HNPCC, hereditary non-polyposis colon cancer syndrome
  • LFL, Li-Fraumeni-like
  • LFS, Li-Fraumeni syndrome
  • MEN, multiple endocrine neoplasia
  • NCCN, National Comprehensive Cancer Network, SDR, second degree relative

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