The impact of multiplex genetic testing on disease risk perceptions

Abstract

This study assessed the effects of multiplex genetic testing on disease risk perceptions among 216 healthy adults. Participants, aged 25-40, were recruited through the Multiplex Initiative, which offered a genetic susceptibility test for eight common diseases. Participants completed baseline telephone and web-based surveys prior to making the testing decision. Three months after the receipt of mailed test results, participants completed a follow-up telephone survey. Risk perceptions for the eight diseases were measured at baseline and follow-up, along with beliefs about genetic causation of those diseases. The main results were: (i) mean risk perceptions were considerably stable from baseline to follow-up; (ii) the best predictors of follow-up risk perceptions were the corresponding baseline perceptions and family history; and (iii) within-individuals, most participants increased or decreased their risk perceptions for specific diseases in concordance with the number of risk markers they carry, their family history and their beliefs about genetic causality of diseases. In conclusion, participants presented a vigilant approach to the interpretation of genetic test results, which provides reassurance with regard to a potential inflation of risk perceptions in the population because of multiplex genetic testing.

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression

“…Family history provides social context and baseline for genetic risk communication. Shiloh et al (43) found that genetic test results indicating diabetes risk increased perceived risk only among those who had a family history of diabetes. People's current understandings on hereditary mechanisms of illnesses need to be taken into account when communicating genetic risks (43,44).…”

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

“…Previous studies have shown that 1) individuals see distinct causal roles for genetic variant and health behavior risk influences for common disease; and 2) these separate causal beliefs are not incompatible (Kaphingst et al, 2012; McBride et al, 2009; McBride, Birmingham, & Kinney, 2015; Sanderson et al, 2009; Shiloh et al, 2015). In fact, for common disease risk, although individuals may view separate influences on distinct tracks, large segments of the population also appear to have disparate views of the relationship between genes and health behavior attributes on perceived risk (Ashida et al, 2011; Condit & Shen, 2011; Haukkala et al, 2015).…”

“…Given the steady increase in the availability of genomic based results, including those available through online formats, there remains appreciable need for additional research on the effectiveness and extension of genetic/genomic counseling service delivery beyond traditional referral reasons (i.e. Mendelian disease risk) and service delivery approaches (Haga et al, 2014; Lewis et al, 2015; Ormond, 2013; Shiloh et al, 2015; Trepanier & Allain, 2014). These include phone (telemedicine) as well as use of e-learning approaches (both static and interactive) either alone or to supplement counseling (Birch, 2015; Haga et al, 2014).…”

“…In a highly educated population of patients provided with genetics/genomics education during recruitment and with access to online genetics/genomics educational material prior to genomic counseling, we did not find significant improvement in genetics/genomics knowledge or numeracy following genomic counseling. Given that the information assessed by the genetic knowledge questionnaire was covered at multiple points during the study recruiting session, discussed in the informed consent document, and included in the educational web pages on the CPMC web portal, in addition to the highly Previous studies have shown that 1) individuals see distinct causal roles for genetic variant and health behavior risk influences for common disease; and 2) these separate causal beliefs are not incompatible (Kaphingst et al 2012;McBride et al 2009;McBride et al 2015;Sanderson et al 2009;Shiloh et al 2015). In fact, for common disease risk, although individuals may view separate influences on distinct tracks, large segments of the population also appear to have disparate views of the relationship between genes and health behavior attributes on perceived risk (Ashida et al 2011;Condit and Shen 2011;Haukkala et al 2015).…”

“…Although studies have shown that genetic counseling can positively affect risk perception for hereditary cancer (Julian-Reynier et al, 2011; McInerney-Leo et al, 2006) and for Alzheimer disease (Ashida et al, 2010), research is needed to assess whether genetic/genomic counseling modifies risk perception for other diseases (Smerecnik, Mesters, Verweij, de Vries, & de Vries, 2009). The study of the impact of multiplex genomic testing on healthy individuals has shown perceptions of disease risk were mostly influenced by prior beliefs about genetic causality of diseases, and by family history (Shiloh et al, 2015). Little is known about how participants offered genomic counseling for multiple potentially actionable diseases perceive its potential benefit.…”