Full text release has been delayed at the author’s request until June 10, 2013.

Degree

MS, University of Cincinnati, Medicine: Genetic Counseling, 2012.

Abstract

Introduction: Family health history (FHH) is clinically useful in identifying individuals at increased risk for chronic diseases such as cancer. In this study, we assessed inclusion of FHH and genetic testing, as well as FHH integration, into counseling (patient education and psychosocial support), prevention, risk assessment, and screening guidelines for breast, ovarian, and colorectal cancer. We determined the proportion of guidelines that included FHH, genetic testing, and integrated FHH. Methods: We used the National Guideline Clearinghouse (NGC), an online, public database of clinical practice guidelines, to identify guidelines that addressed counseling, prevention, risk assessment, and/or screening for breast, ovarian, and colorectal cancer. These guidelines were coded to determine the inclusion of FHH, genetic testing, and FHH integration. FHH was coded as “well-integrated” if the guideline included all three of the following points: defined FHH in terms of familial relationship, utilized FHH to stratify risk of developing disease, and utilized FHH to recommend modified medical management. Results: 65 guidelines met inclusion/exclusion criteria (23 breast cancer, 18 colorectal cancer, four ovarian cancer, and 20 for multiple conditions). FHH was included in 46 guidelines (71%). FHH was defined with respect to familial relationship (such as first-, second-, or third-degree relative with cancer) in 26 guidelines (40%). Diagnostic genetic testing was included in 23 guidelines (35%). Colorectal cancer guidelines referenced diagnostic genetic testing in the highest proportion of guidelines (10 of the 18 colorectal cancer guidelines; 56%) and referenced a specific diagnostic genetic test in the highest proportion of guidelines (8 of the 18 colorectal cancer guidelines; 44%). FHH was well-integrated into 15 guidelines (23%). Surprisingly, 19 (29%) did not include FHH at all, and five (8%) included FHH but did not include any of the above points listed for measuring FHH integration. In the remaining 26 guidelines, only one or two of the three above points were included. FHH was well-integrated into the highest proportion of colorectal cancer guidelines (50%) and the lowest proportion of breast cancer guidelines (13%). Conclusions: This study raises awareness of the deficits of FHH integration into clinical practice guidelines for breast, ovarian and colorectal cancer. Despite being a useful tool to identify individuals at increased risk for disease who might benefit from counseling (including patient education and psychosocial guidance), risk assessment, genetic testing, and earlier or different screening/management for disease detection or prevention, FHH was not well-integrated into most guidelines. Better integration of FHH into clinical practice guidelines will help practitioners identify and manage individuals at increased risk for disease, and may result in prevention or early detection of disease.

Subject Headings

Public Health

Keywords

Breast Cancer; Ovarian Cancer; Colorectal Cancer; Clinical Guidelines; Family History

Committee / Advisors

Melanie Myers, PhD (Committee Chair)
Carlos Prada, MD (Committee Member)

Pages

39p.

Document number: ucin1337350837
Permalink: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337350837