Genetic Counseling

School of Health and Human Sciences

Erica CousinsInterest In and Attitudes Toward Genetic Assessment of Venous Thromboembolism Risk Among Direct-To-Consumer Personal Genomic Testing Consumers
Capstone Project Committee:  Nancy Callanan, MS, CGC, Deanna Alexis Carere, MA, MS, ScD, CGC, CCGC, Maggie Helm, MS, CGC, LGC, Scott Richter, PhD (Statistical Consultant)
Background: Inherited thrombophilias affect 5-8% of Americans and increase the risk of venous thromboembolism (VTE). Assessment of genetic risk for VTE was available through direct-to-consumer personal genomic testing (DTC-PGT) until 2013, when the United States Food and Drug Administration took regulatory action against 23andMe. 

Purpose: To evaluate consumer interest in VTE genetic risk information and the effect of this information on consumer risk perception and health behaviors, prior to the FDA action. 

Methods: Between March and July 2012, the Impact of Personal Genomics (PGen) Study recruited new customers of 23andMe and Pathway Genomics (which at the time offered DTC-PGT) to complete online surveys prior to receiving their results (baseline), and 2 weeks and 6 months after viewing their results. Genetic results were linked with survey data. At baseline, participants reported interest in VTE risk information; perceived VTE risk; personal/family history of blood clots; fruit and vegetable intake; physical activity frequency; and smoking history. At 6 month follow-up, participants again reported diet, exercise, and smoking behaviors, as well as aspirin use, and whether or not they discussed their results with family members or a health care professional. Baseline descriptive statistics were stratified by interest in VTE risk information. Among those who reported being very interested in VTE risk information, we compared VTE risk factor frequency across levels of risk perception. Multivariate logistic regression was used to evaluate the association between VTE genetic risk information and health behaviors at follow-up.

Results: Data from 1645 participants were available for baseline analysis and from 474 participants for follow-up behavior analyses. Women and participants with a family or personal history of blood clots expressed greater interest in VTE risk information. The odds of post-PGT aspirin use and increased risk perception were significantly higher given a positive VTE result; no other behaviors analyzed were associated with receiving an increased VTE risk result.

Conclusion: DTC-PGT for VTE risk may impact consumer risk perception and promote aspirin use. The clinical benefit of these effects on reducing VTE events is unknown.
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