Quality of life drives patients’ preferences for secondary findings from genomic sequencing

Abstract

There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology assessment (HTA) of genomic tests such as genomic sequencing (GS). However, personal utility and clinical utility are challenging to define and measure. This study aimed to explore what drives patients’ preferences for hypothetically learning medically actionable and non-medically actionable secondary findings (SF), capturing clinical and personal utility; this may inform development of measures to evaluate patient outcomes following return of SF. Semi-structured interviews were conducted with adults with a personal or family cancer history participating in a trial of a decision aid for selection of SF from genomic sequencing (GS) ( www.GenomicsADvISER.com ). Interviews were analyzed thematically using constant comparison. Preserving health-related and non-health-related quality of life was an overarching motivator for both learning and not learning SF. Some participants perceived that learning SF would help them “have a good quality of life” through informing actions to maintain physical health or leading to psychological benefits such as emotional preparation for disease. Other participants preferred not to learn SF because results “could ruin your quality of life,” such as by causing negative psychological impacts. Measuring health-related and non-health-related quality of life may capture outcomes related to clinical and personal utility of GS and SF, which have previously been challenging to measure. Without appropriate measures, generating and synthesizing evidence to evaluate genomic technologies such as GS will continue to be a challenge, and will undervalue potential benefits of GS and SF.

Return of individual research results from genomic research: A systematic review of stakeholder perspectives

“…Parents also described feelings of responsibility toward their children and desires for control associated with receiving the results [ 11 ]. In contrast, adult participants want SSR in order to have greater certainty about personal risk [ 8 , 30 ], to determine whether they required screening [ 8 ], because it was recommended by their healthcare professional or desired by a relative [ 8 ], or for insurance or planning purposes [ 8 , 30 , 88 ]. Participants also listed a desire to know health information [ 5 , 12 , 81 ], provide diagnostic certainty [ 82 ], prevent disease/improve health [ 5 , 12 , 81 , 86 , 88 ], adopt better health habits [ 88 ] and alter medical management as reasons for wanting their results [ 5 , 82 ].…”

“…May become overly vigilant/lead to unnecessary appointments [88] Inability to make health changes [85] Concerns about availability of health or life insurance [ Do not consider themselves to be at risk [97] Lack of resources and clinical expertise [94] https://doi.org/10.1371/journal.pone.0258646.t005…”

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

“…As a hypothesis, this remark may be justified by symptomatic echoing and experienced confrontations with the limits of coping strategies for IRD. www.nature.com/scientificreports/ Concerning the psychological consequences of UFs, the possibility of distress has been identified as an important motive against disclosure in this and other studies 13,16,33 . People may not want to receive too many UFs and, instead, prefer a partly open future 30,34 .…”

Implementation of serological and molecular tools to inform COVID-19 patient management: protocol for the GENCOV prospective cohort study

“…28 Previous research has found that participants value learning a broad range of genomic results, beyond results that are clinically actionable. [29][30][31][32] It is unknown how returning this information to patients with COVID-19 will impact patients' well-being and behaviour, and ultimately how these factors may impact the healthcare system (eg, health service utilisation). While previous studies have assessed return of results among patient populations affected by hereditary conditions, 33 34 less work has addressed return of results in the general population.…”