The rapid identification of genetic risk factors for common, complex diseases poses great opportunities and challenges for public health. Genetic information is increasingly being utilized as part of commercial efforts, including direct-to-consumer (DTC) genetic testing to provide risk information on common diseases to consumers. Very few empirical data have been gathered to understand the characteristics of DTC test consumers, the psychological, behavioral and health impact, and the ethical, legal and social issues associated with DTC services. In the proposed research, we will survey users of the two leading US companies providing DTC genetic testing (23andMe and Navigenics) regarding their response to genetic tests for common diseases of interest, including heart disease, diabetes, Alzheimer's disease, arthritis, and breast, colon, lung and prostate cancers. Each company now has thousands of customers and each anticipates extensive sales in coming years. Each has agreed to allow our group to survey consumers using third-party data collection and analysis procedures that will enable an independent consideration of the benefits and risks of DTC testing in this format. The companies have also agreed to provide genetic test information (with respondents'permission) for analyses. A total of 1000 consumers (500 from each company) will be surveyed via the Internet before receipt of genetic test results, and we will survey this sample again at 1-2 weeks and six months following receipt of results. To carry out the proposed research, we have assembled an interdisciplinary team of experts with backgrounds in medicine, genetic testing policy and practice, health communication, genetic counseling, health psychology, health law, bioethics and web survey design. Many team members have collaborated on prior, related ELSI-funded research.
Our aims are as follows: 1) to describe who seeks genetic testing and why, collecting information on demographics, motivations for seeking testing, and understanding of genetics;2) to describe the impact of DTC genetic testing, including psychological impact, risk perceptions and comprehension, and personal utility of services;and 3) to assess what consumers do with their genetic information in the domains of health behaviors, insurance changes, information seeking, and communication with family and health care providers. This study will produce results that can be translated into recommendations to guide practice and policy in this rapidly emerging area.

Public Health Relevance

Genetic information is increasingly being utilized as part of commercial efforts, including direct-to-consumer (DTC) genetic testing to provide risk information on common diseases to consumers. We will survey customers of the two leading DTC genetic test services in the U.S., using independent third party data collection and analysis to provide data on who is ordering these tests and why, and what its benefits and risks may be. This study will produce results that can be translated into recommendations to guide practice and policy in this rapidly emerging area.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project (R01)
Project #
7R01HG005092-02
Application #
8147863
Study Section
Special Emphasis Panel (ZRG1-GGG-E (02))
Program Officer
Mcewen, Jean
Project Start
2010-09-07
Project End
2013-06-30
Budget Start
2011-07-01
Budget End
2012-06-30
Support Year
2
Fiscal Year
2011
Total Cost
$368,231
Indirect Cost
Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
02115
Han, Paul K J; Umstead, Kendall L; Bernhardt, Barbara A et al. (2017) A taxonomy of medical uncertainties in clinical genome sequencing. Genet Med 19:918-925
Gollust, Sarah E; Gray, Stacy W; Carere, Deanna Alexis et al. (2017) Consumer Perspectives on Access to Direct-to-Consumer Genetic Testing: Role of Demographic Factors and the Testing Experience. Milbank Q 95:291-318
Sparks, Jeffrey A; Iversen, Maura D; Yu, Zhi et al. (2017) Disclosure of personalized rheumatoid arthritis risk using genetics, biomarkers, and lifestyle factors to motivate health behavior improvements:A randomized controlled trial. Arthritis Care Res (Hoboken) :
Gray, Stacy W; Gollust, Sarah E; Carere, Deanna Alexis et al. (2017) Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study. J Clin Oncol 35:636-644
Koeller, Diane R; Uhlmann, Wendy R; Carere, Deanna Alexis et al. (2017) Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study. J Genet Couns 26:1270-1279
Nielsen, Daiva Elena; Carere, Deanna Alexis; Wang, Catharine et al. (2017) Diet and exercise changes following direct-to-consumer personal genomic testing. BMC Med Genomics 10:24
Wang, Catharine; Gordon, Erynn S; Norkunas, Tricia et al. (2016) A randomized trial Examining The Impact Of Communicating Genetic And Lifestyle Risks For Obesity. Obesity (Silver Spring) 24:2481-2490
Delaney, Susan K; Hultner, Michael L; Jacob, Howard J et al. (2016) Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn 16:521-32
De Castro, Mauricio; Biesecker, Leslie G; Turner, Clesson et al. (2016) Genomic medicine in the military. NPJ Genom Med 1:15008
Carere, Deanna Alexis; Kraft, Peter; Kaphingst, Kimberly A et al. (2016) Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing. Genet Med 18:65-72

Showing the most recent 10 out of 64 publications