alexa Referral of Patients with Suspected Hereditary Breast-Ovarian Cancer or Lynch Syndrome for Genetic Services: A Systematic Review | OMICS International | Abstract
ISSN: 2161-0711

Journal of Community Medicine & Health Education
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Research Article

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

Yen Y Tan1,2,3* Leonie L Noon1,5 Julie M McGaughran1,4 Andreas Obermair1,2 Amanda B Spurdle3

1School of Medicine, The University of Queensland, Australia

2Queensland Centre for Gynaecological Cancer Research, Australia

3Genetics and Computational Biology Division, Queensland Institute of Medical Research, Australia

4Genetic Health Queensland, Australia

5Department of Medicine, Familial Cancer Service, Westmead Hospital, Australia

*Corresponding Author:
Yen Y Tan
Rm 727, Level 7 Block 6
Royal Brisbane & Women’s Hospital
Herston, QLD 4029, Australia
Tel: (07) 3346 5192
E-mail: [email protected]

Received date: November 14, 2013; Accepted date: December 18, 2013; Published date: December 20, 2013

Citation: Tan YY, Noon LL, McGaughran JM, Spurdle AB, Obermair A (2013) Referral of Patients with Suspected Hereditary Breast-Ovarian Cancer or Lynch Syndrome for Genetic Services: A Systematic Review. J Community Med Health Educ 3:255. doi: 10.4172/2161-0711.1000255

Copyright: © 2013 Tan YY, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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.


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