Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results

Abstract

PurposeEliciting and understanding patient and research participant preferences regarding return of secondary test results is a key aspect of genomic medicine. A valid instrument should be easily understood without extensive pre-test counseling, while still faithfully eliciting patients’ preferences.MethodsWe conducted focus groups with 110 adults to understand patient perspectives on secondary genomic findings and the role preferences should play. We then developed and refined a draft instrument, and used it to elicit preferences from parents participating in a genomic sequencing study in children with intellectual disabilities.ResultsPatients preferred filtering of secondary genomic results to avoid information overload and to avoid learning what the future holds, among other reasons. Patients preferred to make autonomous choices about which categories of results to receive and to have their choices applied automatically before results are returned to them and their clinicians. The Preferences Instrument for Genomic Secondary Results (PIGSR) is designed to be completed by patients or research participants without assistance and to guide bioinformatic analysis of genomic raw data. Most participants wanted to receive all secondary results, but a significant minority indicated other preferences.ConclusionsOur novel instrument – PIGSR – should be useful in a wide range of clinical and research settings.

Renal genetics in Australia: Kidney medicine in the genomic age

“…The identification of variants of uncertain significance, and of secondary or incidental findings unrelated to the reason for testing pose additional clinical challenges . Most research in this area suggests that patients wish to be informed of secondary findings, even when limited treatment options are available, raising important issues about how to incorporate providing this information within the RGC service delivery model. Patient preferences for genomic testing have mainly been evaluated in the oncology and obstetric setting .…”

Secondary findings: How did we get here, and where are we going?

“…They frequently report a desire to receive all or a broad range of SFs, including those without clear medical actionability (Brothers et al, 2017;Loud et al, 2016;Shahmirzadi et al, 2014). Patients who prefer a more circumscribed set of findings cite reasons including preventing information overload, avoiding learning about the future, and remaining protected against information that may cause psychological harm or discrimination; they prefer automatic masking of results so their physician receives only results that match their preferences (Brothers et al, 2017). Other considerations that guide patient preferences include the benefits of knowing versus not knowing, and whether or not there is potential to learn this information in the future (Ryan, De Vries, Uhlmann, Roberts, & Gornick, 2017).…”

Genomic sequencing identifies secondary findings in a cohort of parent study participants

“…We developed the Preferences Instrument for Genomic Secondary Results (PIGSR) 6 to elicit parents' preferences for receiving categories of secondary results. This instrument divides secondary findings into 13 distinct disease categories ( Figure 1).…”

“…One goal of our study was to understand patient preferences as they relate to receipt of secondary findings across various disease categories 6 . 85% of parents requested all secondary findings, while 1.6% declined to receive all findings.…”