Direct‐to‐consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience

Abstract

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report

“…Those who reported decreased consumption were asked whether they attributed this decrease to the report specifically. A novel aspect of the study is the assessment of genetic result-sharing and health behaviors in a considerably larger sample than previous reports on other serious heritable conditions, 27,28 including the Alpha Coded Testing Study, which investigated planned rather than retrospective sharing behavior. 15 Here, learning that one had risk variants appeared to exert a generally strong influence on result-sharing and favorable effects on behaviors that can exacerbate the health risks associated with AATD, consistent with a prior report on smoking quit attempts.…”

Assessing the impact of developments in genetic testing on insurers' risk exposure

“…One study assessed different hypothetical situations around sharing genetic test results for women at high risk of breast cancer and found that 60% of women would share with their doctor if they were at below average risk, as compared to 81% of women if they were at above average risk [54]. In terms of actual sharing of results with healthcare providers, studies found that the percentage of participants who shared information ranged from 35 to 41% for those that received genetic test results from DTC tests [40,44,64], and from 12 to 53% for those that received genetic test results in research contexts [45,[65][66][67][68][69].…”

“…Unsurprisingly, more people reported sharing positive results (indicating a potential health issue) with healthcare providers as compared to negative results. For instance, one study found that of those receiving DTC genetic test results for venous thromboembolism (VTE), 41% that had the genetic variant associated with VTE shared the results with healthcare providers, as compared with only 7% that did not have the variant [64]. In an Australian study that provided people with information on their genetic risk of melanoma, 41% of those in the high-risk group shared information with healthcare providers, as compared to 16% in the average risk group and 12% of those in the low-risk group [66].…”

“…In an Australian study that provided people with information on their genetic risk of melanoma, 41% of those in the high-risk group shared information with healthcare providers, as compared to 16% in the average risk group and 12% of those in the low-risk group [66]. People mostly reported sharing results with primary care providers or general practitioners, although some also shared them with genetic specialists and other providers [40,44,45,64].…”

“…In addition, Diseati, et al [68] found that of the 14% of participants (100 participants) who shared their risk report for melanoma with a healthcare provider, only 17% of these had additional tests conducted, such as biopsies. In other studies, those who received information on VTE, various types of cancer, 13 melanoma and, for one study, whole genome sequencing (WGS), were substantially more likely to participate in disease screening or testing after receiving genetic test results [64,66,76].…”