Skip to main content
Premium Trial:

Request an Annual Quote

PGen Study to Survey 1K Subjects to Investigate Impact of Personal Genomics Data

Premium

Originally published March 6.

Researchers conducting a prospective analysis of the psychological and behavioral impact of personal genomics data announced this week that they are ready to send out surveys to study participants.

The Personal Genomics Study, or PGen, is being led by principal investigators Robert Green of Brigham and Women's Hospital and J. Scott Roberts of the University of Michigan School of Public Health.

In PGen, which has funding from the National Human Genome Research Institute (PGx Reporter 6/9/2010), Green and Roberts will be surveying customers who have received results from gene scans conducted by 23andMe and Pathway Genomics to investigate how this information has impacted them. The project, which was previously called Genomes2People, aims to survey 1,000 participants — half will be Pathway customers and the other half will be 23andMe customers.

"Researchers will then … compare survey responses to the genetic results, providing unique insight into the risks and benefits of personal genomic services," according Green and Roberts.

23andMe markets its gene scans online directly to customers and doesn't require a doctor's prescription. Meanwhile, while Pathway Genomics previously launched its genetic testing model under a similar DTC model, the company now markets its testing services largely through doctors. The change came after Pathway received a letter from the US Food and Drug Administration questioning why the company's tests had not been cleared through the agency (PGx Reporter 5/19/2010).

Through the surveys, the researchers will probe consumers' motivations, expectations, and attitudes for getting genetically tested, as well as gauge their responses to learning their genetic disease risk, carrier status, and drug response results. The researchers are hoping that the results of the study will shed light on the type of person who gets personal genomic testing and why; what effect this data has on consumers' psychology, perception and understanding of risk; and what they do with this information.

“The goal is to produce results that can be translated into recommendations to guide policy and practice in this rapidly emerging area,” Green said in a statement.

According to Roberts, there has been a lot of speculation but a dearth of clinical data on the potential risks and benefits of personal genomics data on consumers. "We hope that our study will help to bridge this evidence gap," Roberts said in a statement.

Previous studies, such as the Multiplex Initiative by the National Human Genome Research Institute and a behavioral study by the Scripps Translational Research Institute, have reported that genetic data has a limited impact on people's behavior and that a minority of people share their test reports with genetic counselors or their doctors. However, these surveys also found those who shared their test results with their doctors also appear to be the most motivated to make changes to their lifestyle (PGx Reporter 7/29/09, 11/12/11).

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.