Gemeinschaftsmedizin und Gesundheitserziehung

Abstrakt

Referral of Patients with Suspected Hereditary Breast-Ovarian Cancer or Lynch Syndrome for Genetic Services: A Systematic Review

Yen Y Tan, Leonie L Noon, Julie M McGaughran, Amanda B Spurdle, Andreas Obermair

Background: Referral of individuals with suspected hereditary breast-ovarian cancer or Lynch syndrome for genetic services is very important as it allows effective surveillance and prevention strategies for these individuals and their family members. However, evidence to date indicates poor recognition of both hereditary cancer syndromes, and inappropriate or under referral of patients with suspected hereditary cancer syndromes for genetic services. In this review, we summarize the most common physician-related factors important for referral of these patients for genetic services. Methods: A systematic search was conducted in both PubMed and Embase for studies published from the earliest date possible until May 1, 2013. The search terms included MeSH and Emtree headings, and free-text words: “health knowledge, attitudes, practice”, “attitude of health personnel”, “clinical competence”, “family history”, “referral and consultation”, “health care availability”, “availability of health care”, “health care access”, “accessibility of health care”, “genetic services”, “genetic counseling”, “genetic testing”, “genetic predisposition to cancer”, “hereditary neoplastic syndromes”, “familial cancer”, “hereditary cancer”, “Lynch syndrome”, “hereditary breast and ovarian cancer syndrome”, and “physicians”. Three reviewers abstracted data and assessed quality independently, with disagreement resolved by consensus. Results: The search revealed 202 discrete citations. One hundred and twelve articles were retrieved and 41 relevant citations were assessed. Of the 41 relevant studies, 18 assessed family history documentation, 29 assessed physicians’ knowledge, 19 assessed awareness of genetic services, 29 assessed physicians’ referral patterns, and only three investigated physicians’ ability to distinguish between low- and high-risk patients. Physicians demonstrated insufficient knowledge about hereditary cancer syndromes, particularly Lynch syndrome. Family history documentation was inadequate and lacked details for proper risk assessment, and physicians were more likely to refer patients directly to a genetic service when they were aware of such services. Conclusions: This review highlights the need to improve referral of high-risk individuals and their family members for genetic services.