הרצאה: Perceptions of Uncertainty in Genome Sequencing

The Monday Social Psychology Meetings at Tel Aviv University is happy to announce the following Social Psychology talk:

Speaker: Dr. Barbara B. Biesecker,  National Human Genome Research Institute

Topic: Perceptions of Uncertainty in Genome Sequencing

The scope of uncertainty in genome sequence information has no rival in health-care delivery. We present data from adults participating in a National Institutes of Health study using this technology, in which perceptions of uncertainty are hypothesized to be key in predicting decisions to learn and act on genome health information.

We conducted six professionally moderated focus groups with 39 randomly selected ClinSeq participants varying on whether they had coronary heart disease and had received prior sequence results. We elicited perceptions of the uncertainties associated with genome sequencing using written prompts. Participants perceived uncertainty as a quality of genome information. The majority of participants characterized uncertainty of sequencing information as "changing, fluid, developing, or ground breaking." These responses led to anticipation of more optimistic future outcomes.

Fewer participants described uncertainty as "questionable, less accurate, limited, or poorly understood." These perceptions seemed to undermine participants' faith in genome information, leading to feelings of disillusionment. Our findings suggest that perceptions of uncertainty are related to epistemological beliefs that inform expectations for the information. Overall uncertainty responses fell into three domains: clinical, affective and credibility. These were used to develop a scale of uncertainty.

The Personal Uncertainties in Genome Sequencing (PUGS) scale was used in a survey of adults undergoing sequencing to assess anticipated uncertainties. Ten items assessed level of personal uncertainty in the three domains. Five hundred seventeen participants who had not received sequence results completed the scale. Responses to the PUGS were normally distributed with a mean score of 3.5/5 (SD 0.58). There was high internal consistency (α=0.835). Factor analysis supported the three intended domains. Perceived clinical uncertainties were highest and contributed most to the variance inoverall uncertainty (55.6%).

Significant correlations with perceived ambiguity (r=-0.293, p<0.01), and attitudinal ambivalence (r=-0.134, p<0.01) support the validity of the scale. We conclude that the PUGS is a promisingscale for assessing personal uncertainties in genome sequencing. With further use and evaluation, the PUGS will help in assessing the effectiveness of interventions aimed at helping patients form realistic expectations of uncertainties associated with genome sequencing.