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 #
5R01HG005092-03
Application #
8334094
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
2012-07-01
Budget End
2013-06-30
Support Year
3
Fiscal Year
2012
Total Cost
$329,600
Indirect Cost
$70,490
Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
02115
Sharp, Aaron R; Ridge, Perry G; Bailey, Matthew H et al. (2014) Population substructure in Cache County, Utah: the Cache County study. BMC Bioinformatics 15 Suppl 7:S8
Roberts, J Scott; Dolinoy, Dana C; Tarini, Beth A (2014) Emerging issues in public health genomics. Annu Rev Genomics Hum Genet 15:461-80
Wang, Catharine; Gordon, Erynn S; Stack, Catharine B et al. (2014) A randomized trial of the clinical utility of genetic testing for obesity: design and implementation considerations. Clin Trials 11:102-13
Karlawish, Jason; Green, Robert C (2014) Minding the aging brain: are we ready for personalized medicine? Am J Psychiatry 171:137-9
Sparks, Jeffrey A; Iversen, Maura D; Miller Kroouze, Rachel et al. (2014) Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study: rationale and design for a randomized controlled trial evaluating rheumatoid arthritis risk education to first-degree relatives. Contemp Clin Trials 39:145-57
Kalf, Rachel R J; Mihaescu, Raluca; Kundu, Suman et al. (2014) Variations in predicted risks in personal genome testing for common complex diseases. Genet Med 16:85-91
Bollinger, Juli Murphy; Green, Robert C; Kaufman, David (2013) Attitudes about regulation among direct-to-consumer genetic testing customers. Genet Test Mol Biomarkers 17:424-8
Green, Robert C; Berg, Jonathan S; Grody, Wayne W et al. (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565-74
McGuire, Amy L; Joffe, Steven; Koenig, Barbara A et al. (2013) Point-counterpoint. Ethics and genomic incidental findings. Science 340:1047-8
Roberts, J Scott; Ostergren, Jenny (2013) Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies. Curr Genet Med Rep 1:182-200

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