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SVJ reports a relationship with deCode Genetics for support of testing, but no financial support. JO'D is employed by Illumina, Inc.
AC, GSG and SVJ are responsible for the study design. SVJ and GMT facilitated the setup of recruitment in the two clinics where recruitment will occur. LKJ will be responsible for coordinating patient recruitment, data collection and data entry. AC, SH, JO'D, and SVJ developed the survey instruments used in data collection. AC, SVJ, LKJ, JO'D, and KK developed the risk profile algorithm and KK the web-based risk profile production tool. JO'D helped develop the risk counseling intervention and provider training. JEL was responsible for statistical analysis planning. GSG secured the funding that made this study possible and was the overall project principal investigator. LKJ wrote the first draft of the manuscript. PG contributed to statistical analysis planning and is the corresponding author. All authors read, revised, and approved the final version of the manuscript, for which AC is the guarantor.
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.
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.
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.