Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project

Abstract

Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, and diagnosis, but also poses practical and ethical challenges. Understanding how individuals react psychologically and behaviourally will be key in assessing the potential utility of personal whole-genome sequencing. We conducted an exploratory longitudinal cohort study in which quantitative surveys and in-depth qualitative interviews were conducted before and after personal results were returned to individuals who underwent whole-genome sequencing. The participants were offered a range of interpreted results, including Alzheimer's disease, type 2 diabetes, pharmacogenomics, rare disease-associated variants, and ancestry. They were also offered their raw data. Of the 35 participants at baseline, 29 (82.9%) completed the 6-month follow-up. In the quantitative surveys, test-related distress was low, although it was higher at 1-week than 6-month follow-up (Z=2.68, P=0.007). In the 6-month qualitative interviews, most participants felt happy or relieved about their results. A few were concerned, particularly about rare disease-associated variants and Alzheimer's disease results. Two of the 29 participants had sought clinical follow-up as a direct or indirect consequence of rare disease-associated variants results. Several had mentioned their results to their doctors. Some participants felt having their raw data might be medically useful to them in the future. The majority reported positive reactions to having their genomes sequenced, but there were notable exceptions to this. The impact and value of returning personal results from whole-genome sequencing when implemented on a larger scale remains to be seen.

Impact of Receiving Secondary Results from Genomic Research: A 12‐Month Longitudinal Study

“…Participants with PDR results reported using slightly more emotional and problem-based coping than those without PDR but coping behaviors and actions were minimal in both groups. Overall, learning about a wide range of secondary findings (well beyond the ACMG list of secondary findings) appeared to have little measurable impact on most participants, which is consistent with previous reports (Lewis et al, 2016; S. C. Sanderson et al, 2017).…”

“…Participants displayed a tendency to overestimate the ability of genomics to predict disease risk and subsequent disappointment about the lack of overall results or of results related to a specific disease or trait, which has been documented in other genomic studies, suggesting a need to anticipate and manage unrealistic expectations of GS (Amendola et al, 2015; Lewis et al, 2016; S. C. Sanderson et al, 2017).…”

“…Early research indicates that participants receiving research results find the information valuable, even when the results are negative, though they do not report changes in their lifestyle behaviors. Participants generally share the information with their health care providers, report the experience to be positive or neutral and not negative, and have no changes in their psychological wellbeing (Lewis et al, 2016; S. C. Sanderson et al, 2017).…”

Exploring the emotional and behavioural reactions to receiving personalized melanoma genomic risk information: a qualitative study

“…We found that many participants experienced positive emotional reactions to receiving their risk results, similarly to other genetic testing studies . Sanderson et al . and Wasson et al .…”

“…Personal genomic testing is increasingly being offered in clinical, research and commercial contexts . The mainstreaming of genomic testing offers the possibility of providing personalized risk information for common, polygenic diseases such as melanoma on a population‐wide scale .…”