Referral for cancer genetics consultation: A review and compilation of risk assessment criteria Journal Article


Authors: Hampel, H.; Sweet, K.; Westman, J. A.; Offit, K.; Eng, C.
Article Title: Referral for cancer genetics consultation: A review and compilation of risk assessment criteria
Abstract: 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.
Keywords: gene mutation; genetics; review; cancer risk; cancer patient; neoplasm; neoplasms; genetic predisposition to disease; melanoma; cancer screening; publication; risk factor; risk assessment; cancer genetics; cancer center; medical information; breast carcinoma; ovary carcinoma; health care personnel; referral and consultation; consultation; familial cancer; thyroid cancer; colon carcinoma; genetic predisposition; patient referral; genetic counseling; history of medicine; polyposis; computer system; multiple endocrine neoplasia; humans; human; male; female; priority journal
Journal Title: Journal of Medical Genetics
Volume: 41
Issue: 2
ISSN: 0022-2593
Publisher: BMJ Publishing Group Ltd.  
Date Published: 2004-02-01
Start Page: 81
End Page: 91
Language: English
PROVIDER: scopus
PMCID: PMC1735676
PUBMED: 14757853
DOI: 10.1136/jmg.2003.010918
DOI/URL:
Notes: J. Med. Genet. -- Cited By (since 1996):92 -- Export Date: 16 June 2014 -- CODEN: JMDGA C2 - 14757853 -- Source: Scopus
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  1. Kenneth Offit
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