Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: study rationale, development and design.


BACKGROUND: Type 2 diabetes is a prevalent chronic condition globally that results in extensive morbidity, decreased quality of life, and increased health services utilization. Lifestyle changes can prevent the development of diabetes, but require patient engagement. Genetic risk testing might represent a new tool to increase patients' motivation for lifestyle changes. Here we describe the rationale, development, and design of a randomized controlled trial (RCT) assessing the clinical and personal utility of incorporating type 2 diabetes genetic risk testing into comprehensive diabetes risk assessments performed in a primary care setting. METHODS/DESIGN: Patients are recruited in the laboratory waiting areas of two primary care clinics and enrolled into one of three study arms. Those interested in genetic risk testing are randomized to receive either a standard risk assessment (SRA) for type 2 diabetes incorporating conventional risk factors plus upfront disclosure of the results of genetic risk testing ("SRA+G" arm), or the SRA alone ("SRA" arm). Participants not interested in genetic risk testing will not receive the test, but will receive SRA (forming a third, "no-test" arm). Risk counseling is provided by clinic staff (not study staff external to the clinic). Fasting plasma glucose, insulin levels, body mass index (BMI), and waist circumference are measured at baseline and 12 months, as are patients' self-reported behavioral and emotional responses to diabetes risk information. Primary outcomes are changes in insulin resistance and BMI after 12 months; secondary outcomes include changes in diet patterns, physical activity, waist circumference, and perceived risk of developing diabetes. DISCUSSION: The utility, feasibility, and efficacy of providing patients with genetic risk information for common chronic diseases in primary care remain unknown. The study described here will help to establish whether providing type 2 diabetes genetic risk information in a primary care setting can help improve patients' clinical outcomes, risk perceptions, and/or their engagement in healthy behavior change. In addition, study design features such as the use of existing clinic personnel for risk counseling could inform the future development and implementation of care models for the use of individual genetic risk information in primary care. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00849563.





Published Version (Please cite this version)


Publication Info

Cho, Alex H, Ley A Killeya-Jones, Julianne M O'Daniel, Kensaku Kawamoto, Patrick Gallagher, Susanne Haga, Joseph E Lucas, Gloria M Trujillo, et al. (2012). Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: study rationale, development and design. BMC Health Serv Res, 12. p. 16. 10.1186/1472-6963-12-16 Retrieved from https://hdl.handle.net/10161/13545.

This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.



Alex Han Cho

Associate Professor of Medicine

Population health; telehealth; primary care; implementation science; applied genomics; health behavior; patient self-management; health policy.


Susanne B Haga

Professor in Medicine

My research interests focus on issues affecting the translation of genomics to clinical practice. Specifically, I have a strong interest in education, with each of my research projects involving some component of professional, public or patient education, including development of educational materials about genomic research in general, pharmacogenetic testing, and communicating genetic test results, in addition to undergraduate teaching in genetics/genomics, ethics, and policy.

Areas of expertise: Bioethics and Health Behavior

Scott Victor Joy

Adjunct Associate Professor in the Department of Medicine

Leadership Positions:

Chief of Clinical Services, Division of General Internal Medicine
Medical Director, Duke Health Center at Pickett Road

Professional Committee Assignments:

Pharmacy and Therapeutics Committee, Duke Hospital
Primary Care Management Committee, Private Diagnostics Clinics
Interdisciplinary Medical Decision Making Initiative, Duke School of Medicine and Duke Fuqua School of Business
Physician Advisory Group, Duke Prospective Health, PrimaHealth IPA
North Carolina Diabetes Advisory Council, North Carolina Department of Health and Human Services, Division of Public Health

Clinical/Research Interest:

Management of Type 2 Diabetes
Management of Hypertension
Management of Chronic Kidney Disease
Quality Improvement/Pay-for-Performance
Medical Practice Management


Geoffrey Steven Ginsburg

Adjunct Professor in the Department of Medicine

Dr. Geoffrey S. Ginsburg's research interests are in the development of novel paradigms for developing and translating genomic information into medical practice and the integration of personalized medicine into health care.

Unless otherwise indicated, scholarly articles published by Duke faculty members are made available here with a CC-BY-NC (Creative Commons Attribution Non-Commercial) license, as enabled by the Duke Open Access Policy. If you wish to use the materials in ways not already permitted under CC-BY-NC, please consult the copyright owner. Other materials are made available here through the author’s grant of a non-exclusive license to make their work openly accessible.