Abstract
BackgroundThere is a widespread assumption that risk prediction is the major driver of customer interest in personal genomic testing (PGT). However, some customers may also be motivated by finding out whether their existing diseases have a genetic etiology. We evaluated the impact of an existing medical diagnosis on customer interest in condition-specific results from PGT.MethodsUsing a prospective online survey of PGT customers, we measured customer interest prior to receiving PGT results for 11 health conditions, and examined the association between interest and personal medical history of these conditions using logistic regression.ResultsWe analyzed data from 1,538 PGT customers, mean age 48.7 years, 61 % women, 90 % White, and 47 % college educated. The proportion of customers who were ‘very interested’ in condition-specific PGT varied considerably, from 28 % for ulcerative colitis to 68% for heart disease. After adjusting for demographic and personal characteristics including family history, having a diagnosis of the condition itself was significantly associated with interest in genetic testing for risk of that condition, with odds ratios ranging from 2.07 (95 % CI 1.28-3.37) for diabetes to 19.99 (95 % CI 4.57-87.35) for multiple sclerosis.ConclusionsPGT customers are particularly interested in genetic markers for their existing medical conditions, suggesting that the value of genetic testing is not only predictive, but also explanatory.Electronic supplementary materialThe online version of this article (doi:10.1186/s13073-015-0188-5) contains supplementary material, which is available to authorized users.
Highlights
There is a widespread assumption that risk prediction is the major driver of customer interest in personal genomic testing (PGT)
Using data from the Impact of Personal Genomics (PGen) Study, [15] a longitudinal survey study of customers from 23andMe, Inc. [16] and Pathway Genomics, [17] we evaluated the association between personal history of a disease, family history of a disease, and interest in PGT results for that disease
Using baseline data from the PGen Study, we demonstrated that consumer interest in genetic risk information from PGT is independently associated both with having a family history of the condition and with having the condition itself
Summary
There is a widespread assumption that risk prediction is the major driver of customer interest in personal genomic testing (PGT). Alternative motivations may exist: for example, in two qualitative studies, we found that overweight and obese individuals sought genetic testing in part to obtain an explanation for their condition [13, 14]. As these findings were in a small sample, focused on only one health condition (obesity) and did not pertain to DTC testing, it is not clear whether they could have application to the wider PGT consumer population
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