Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status

Abstract

For patients with unexplained or undiagnosed conditions, genomic sequencing offers the hope of resolving unanswered questions. With the growth of clinical genomic sequencing, understanding factors that shape patients' hope for information could have important implications for developing patient education guidelines. Based on the goal-directed theory of hope, we investigated illness uncertainty as a form of motivation and subjective social status as a form of perceived resources to predict the amount and kinds of information that adult patients (N = 191) and parents of pediatric patients (N = 79) hoped to receive from diagnostic sequencing results. Participants were part of a larger longitudinal study on clinical genomic sequencing, but the current study focuses on their hopes for diagnostic sequencing results. Hopes for information were assessed through close-ended and open-ended responses. Findings from mixed methods analyses indicated that although patients and parents hoped to learn multiple kinds of information from diagnostic sequencing results, their hopes appeared to be influenced by their illness uncertainty and perceptions of their social and economic resources. These findings suggest that patients' illness uncertainty and perceived resources could be useful avenues for discussing patient hopes and educating patients about strengths and limitations of genomic sequencing.

Known unknowns: building an ethics of uncertainty into genomic medicine

“…Uncertainty is, however, ethically relevant. For example, there are both conceptual and empirical ties between notions of uncertainty and hope [ 6 , 13 , 22 , 31 – 33 ]. But experiences of uncertainty might also mean that recipients of uncertain genomic information may experience stress, a reduced sense of coherence and loss of control.…”

“…However while genetic testing has always carried with it the prospect that uncertain information would arise, [ 5 , 6 ] the increased scale of genomic testing methods such as panel-, exome- or whole genome sequencing (and the information they could give rise to) means that results with uncertain significance, uncertain prognostic indicators or a meaning that changes over time are now more prevalent [ 7 – 11 ]. Uncertainty is, and will continue to be, inherent to genomic medicine [ 12 , 13 ].…”

Patient experience of uncertainty in cancer genomics: a systematic review

“…2,12 Treatments targeting actionable genomic results are often experimental. Thus, while reducing uncertainty can be a motivator for pursuing genomic testing, 13 results have the potential to increase uncertainty.…”

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty

“…The NCGENES study examined the utility of exome sequencing as a diagnostic tool for a clinically diverse group of 645 patients with suspected genetic conditions (Moore et al, 2017), including 125 adults with suspected hereditary cancer. By joining NCGENES, participants hoped to learn the cause of their illness and information on their family members' risk, and to advance research or benefit others (Khan, Moore, Leos, & Rini, 2016).…”