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 #
1R01HG005092-01A1
Application #
7987948
Study Section
Special Emphasis Panel (ZRG1-GGG-E (02))
Program Officer
Mcewen, Jean
Project Start
2010-09-26
Project End
2011-04-01
Budget Start
2010-09-26
Budget End
2011-04-01
Support Year
1
Fiscal Year
2010
Total Cost
$411,045
Indirect Cost
Name
Boston University
Department
Neurology
Type
Schools of Medicine
DUNS #
604483045
City
Boston
State
MA
Country
United States
Zip Code
02118
Wolf, Susan M; Scholtes, Emily; Koenig, Barbara A et al. (2018) Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants. J Law Med Ethics 46:87-109
Prado, Maria G; Iversen, Maura D; Yu, Zhi et al. (2018) Effectiveness of a Web-Based Personalized Rheumatoid Arthritis Risk Tool With or Without a Health Educator for Knowledge of Rheumatoid Arthritis Risk Factors. Arthritis Care Res (Hoboken) 70:1421-1430
Sparks, Jeffrey A; Iversen, Maura D; Yu, Zhi et al. (2018) 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) 70:823-833
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
Landry, Latrice; Nielsen, Daiva Elena; Carere, Deanna Alexis et al. (2017) Racial minority group interest in direct-to-consumer genetic testing: findings from the PGen study. J Community Genet 8:293-301
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
Roberts, J Scott; Gornick, Michele C; Carere, Deanna Alexis et al. (2017) Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results. Public Health Genomics 20:36-45
Carere, Deanna Alexis; VanderWeele, Tyler J; Vassy, Jason L et al. (2017) Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study. Genet Med 19:537-545

Showing the most recent 10 out of 72 publications