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Genomic Testing Health Data Support Healthcare Decisions

By HospiMedica International staff writers
Posted on 26 Jan 2017
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Direct-to-consumer personal genomic testing (DTC-PGT) services are generally perceived as useful in shaping informed future health choices, according to a new study.

Researchers at the University of Michigan, Brigham and Women’s Hospital, and other institutions conducted three web surveys among customers of 23andMe and Pathway Genomics in order to better understanding who got tested and how they perceived the harms, benefits, and limitations of the data. In all, 1,648 consumers from the two companies completed Web surveys before and after receiving the genomic test results.

The results showed that prior to testing, DTC-PGT consumers were as interested in ancestry (74%) and trait information (72%) as they were in disease risks (72%). Among disease risks, heart disease (68%), breast cancer (67%), and Alzheimer disease (66%) raised the most interest. Interest in disease risks was associated with female gender and poorer self-reported health. In addition, 38% of the consumers did not consider the possibility of unwanted information before purchasing services; this group was more likely to be older, male, and less educated.

After receiving their test results, 59% of respondents said the test information would influence future management of their health; 2% regretted seeking testing; and one percent reported harm from results. The conditions of greatest interest for genetic risk information were more prevalent among women and people with poorer self-reported health that showed high interest in these types of information. In all, 93% felt genetic testing was a right decision, and 94% said they would do it again. The study was published on January 10, 2017, in Public Health Genomics.

“As consumers have been able to learn more about their genetic makeup in recent years through personal genomic testing, one big criticism has been that without someone to interpret it, the health information could be harmful to the receivers,” said lead author Scott Roberts, PhD, of the U-M School of Public Health. “These data suggest that many of the concerns and criticisms about putting this information into the hands of consumers may presume an exaggerated likelihood of harm.”

Personal genomics is a branch of genomics that deals with the sequencing and analysis of the genome of individuals, which can then be compared to published literature to identify the likelihood of disease risks and trait expressions of genetically inherited diseases such as sickle cell anemia, thalassemia, and cystic fibrosis. With advances in DNA sequencing techniques and data analytics, the cost of genetic testing has been falling rapidly, making it more affordable.

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