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Return of genetic and genomic research findings: experience of a pediatric biorepository.

ABSTRACT: BACKGROUND:Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants. METHODS:Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receipt of this information was reviewed. RESULTS:Genetic data was generated in 1963 of 7408 participants. Fifty-nine new findings were presented to the RRR committee; 20 (34%) were deemed reportable. Twelve were returned to the physician, of which 7 were disclosed to participants (median time to disclosure, 192?days). Seven findings were returned to the research genetic counselor; all have been disclosed (median time to disclosure, 19?days). Twelve families (86%) opted for referral to clinical genetics after disclosure of findings; 7 results have been validated, 5 results are pending. Average cost of return and disclosure per reportable finding incurred by the research program was $750 when utilizing a research genetic counselor; clinical costs associated with return were not included. CONCLUSIONS:Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings, with all referred cases being clinically confirmed.

SUBMITTER: Papaz T

PROVIDER: S-EPMC6882371 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Return of genetic and genomic research findings: experience of a pediatric biorepository.

Papaz Tanya T Liston Eriskay E Zahavich Laura L Stavropoulos Dimitri J DJ Jobling Rebekah K RK Kim Raymond H RH Reuter Miriam M Miron Anastasia A Oechslin Erwin E Mondal Tapas T Bergin Lynn L Smythe John F JF Altamirano-Diaz Luis L Lougheed Jane J Yao Roderick R Akinrinade Oyediran O Breckpot Jeroen J Mital Seema S

BMC medical genomics 20191127 1

<h4>Background</h4>Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.<h4>Methods</h4>Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receip ...[more]

PMID: 31775751

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Project description:Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to systematically review the empirical literature exploring stakeholders' perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants.

Dataset Information

Return of genetic and genomic research findings: experience of a pediatric biorepository.

Publications

Return of genetic and genomic research findings: experience of a pediatric biorepository.

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