Personal utility in genomic testing: a systematic literature review

Kohler, Jennefer N.; Turbitt, Erin; Biesecker, Barbara B.

doi:10.1038/ejhg.2017.10

Cited by 136 publications

(160 citation statements)

References 59 publications

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“…However, psychiatry researchers often used the concept to refer to opportunities for not just medical but also psychosocial and behavioral preparation or modification. There is a body of literature that supports that the general public values genomic information not just for its direct medical implications, but for its “personal utility” or its value for nonmedical reasons such as enhancing capacity to cope with health risks and ability to plan finances, housing and long‐term care (Kohler, Turbitt, & Biesecker, ).…”

Section: Discussionmentioning

confidence: 99%

Psychiatric genetics researchers' views on offering return of results to individual participants

Kostick

Brannan

Pereira

et al. 2018

American J of Med Genetics Pt B

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In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome-wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitative interviews with 39 psychiatric genetics researchers from different countries operating at the forefront of their field, we provide an insider's view of researchers' practices regarding RoR and the most contentious issues in psychiatry researchers' decision-making around RoR, including what are the strongest ethical, scientific, and practical arguments for and against offering RoR from this research. Notably, findings suggest that psychiatric genetics researchers (85%) overwhelmingly favor offering RoR of at least some findings, but only 22% of researchers are returning results. Researchers identified a number of scientific and practical concerns about RoR, and about how to return results in a responsible way to patients diagnosed with a severe psychiatric disorder. Furthermore, findings help highlight areas for further discussion and resolution of conflicts in the practice of RoR in psychiatric genetics research. As the pace of discovery in psychiatric genetics continues to surge, resolution of these uncertainties gains greater urgency to avoid ethical pitfalls and to maximize the positive impact of RoR. K E Y W O R D S attitudes, empirical, genetic, psychiatry, qualitative

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Section: Discussionmentioning

confidence: 99%

Psychiatric genetics researchers' views on offering return of results to individual participants

Kostick

Brannan

Pereira

et al. 2018

American J of Med Genetics Pt B

View full text Add to dashboard Cite

show abstract

“…Receiving a genetic diagnosis may also have “personal” utility, defined as benefits valued by patients that reach beyond clinical utility . Although reactions are not universal, many families report benefits such as reducing guilt, helping to set expectations about prognosis, informing reproductive decisions, and providing an opportunity to connect with others with the same genetic cause.…”

Section: Return Of Results Workhopmentioning

confidence: 99%

“…Receiving a genetic diagnosis may also have "personal" utility, defined as benefits valued by patients that reach beyond clinical utility. 47,48 Although reactions are not universal, many families report benefits such as reducing guilt, helping to set expectations about prognosis, informing reproductive decisions, and providing an opportunity to connect with others with the same genetic cause. In a recent study that assessed motivations for genetic testing among members of families containing multiple individuals with epilepsy, "the potential to know if epilepsy in the family is caused by a gene" ranked second highest, reflecting a strong influence of personal utility in motivations for testing.…”

Section: Key Pointsmentioning

confidence: 99%

Return of individual results in epilepsy genomic research: A view from the field

et al. 2018

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Genomic findings are emerging rapidly in 2 large, closely related epilepsy research consortia: the Epilepsy Phenome/Genome Project and Epi4K. Disclosure of individual results to participants in genomic research is increasingly viewed as an ethical obligation, but strategies for return of results were not included in the design of these consortia, raising complexities in establishing criteria for which results to offer, determining participant preferences, managing the large number of sites involved, and covering associated costs. Here, we describe the challenges faced, alternative approaches considered, and progress to date. Experience from these 2 consortia illustrates the importance, for genomic research in epilepsy and other disorders, of including a specific plan for return of results in the study design, with financial support for obtaining clinical confirmation and providing ongoing support for participants. Participant preferences for return of results should be established at the time of enrollment, and methods for allowing future contacts with participants should be included. In addition, methods should be developed for summarizing meaningful, comprehensible information about findings in the aggregate that participants can access in an ongoing way.

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“…Survey items for round 1 were developed based on the findings from a systematic literature review of personal utility . The systematic review was conducted specifically in preparation for this study.…”

Section: Methodsmentioning

confidence: 99%

“…Survey items for round 1 were developed based on the findings from a systematic literature review of personal utility. 16 The systematic review was conducted specifically in preparation for this study. The review identified elements of personal utility that were reported in the empirical literature, focusing on the concept as defined by participants or patients.…”

Section: Roundsmentioning

confidence: 99%

Defining personal utility in genomics: A Delphi study

et al. 2017

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Background Individual genome sequencing results are valued by patients in ways distinct from clinical utility. Such outcomes have been described as components of “personal utility,” a concept that broadly encompasses patient-endorsed benefits, that is operationally defined as non-clinical outcomes. No empirical delineation of these outcomes has been reported. Aim To address this gap, we administered a Delphi survey to adult participants in a National Institute of Health (NIH) clinical exome study to extract the most highly endorsed outcomes constituting personal utility. Materials and Methods Forty research participants responded to a Delphi survey to rate 35 items identified by a systematic literature review of personal utility. Results Two rounds of ranking resulted in 24 items that represented 14 distinct elements of personal utility. Elements most highly endorsed by participants were: increased self-knowledge, knowledge of “the condition,” altruism, and anticipated coping. Discussion Our findings represent the first systematic effort to delineate elements of personal utility that may be used to anticipate participant expectation and inform genetic counseling prior to sequencing. The 24 items reported need to be studied further in additional clinical genome sequencing studies to assess generalizability in other populations. Further research will help to understand motivations and to predict the meaning and use of results.

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Personal utility in genomic testing: a systematic literature review

Cited by 136 publications

References 59 publications

Psychiatric genetics researchers' views on offering return of results to individual participants

Psychiatric genetics researchers' views on offering return of results to individual participants

Return of individual results in epilepsy genomic research: A view from the field

Defining personal utility in genomics: A Delphi study

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