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Genomic tools for health: Secondary findings as findings to be shared

  • Skye A. Miner
    Affiliations
    Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, MD

    Department of Medical Humanities and Bioethics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR
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  • Morgan Similuk
    Affiliations
    Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD
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  • Leila Jamal
    Affiliations
    Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, MD

    NHGRI/NCI/JHU Genetic Counseling Training Program, National Human Genome Research Insitute, Bethesda, MD
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  • Julie Sapp
    Affiliations
    Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

    Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
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  • Benjamin E. Berkman
    Correspondence
    Correspondence and requests for materials should be addressed to Benjamin E. Berkman, Department of Bioethics, National Institutes of Health, 10 Center Drive Room 1C118, Bethesda, MD 20892-1156
    Affiliations
    Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, MD

    Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
    Search for articles by this author
Published:August 18, 2022DOI:https://doi.org/10.1016/j.gim.2022.07.015

      ABSTRACT

      Purpose

      Whether and how to disclose secondary finding (SF) information to children is ethically debated. Some argue that genetic testing of minors should be limited to preserve the child’s future autonomy. Others suggest that disclosure of SFs can occur if it is in the best interests of the child. However, the ways that parents conceptualize and weigh their child’s future autonomy against the interests of their child and other family members are unknown.

      Methods

      To explore how parents understand SF disclosure in the context of their child and other family members’ lives, we conducted semistructured interviews with 30 families (40 parents in total). All parents had children who were enrolled in a genetic sequencing protocol that returned results by default.

      Results

      We found that parents did not routinely conceptualize SFs as distinctive health information. Rather parents saw this information as part of their child’s overall health. To make decisions about disclosure, parents weighed their child’s ability to understand the SF information and their other family member’s need to know.

      Conclusion

      Because most families desired SF information, we argue that disclosure of SF be reconceptualized to reflect the lived experiences of those who may receive this information.

      Keywords

      GenePod

      November 4, 2022

      November 2022: Disclosure of secondary findings from genomic testing in children

      Over the past decade, there’s been a running debate about whether to return secondary findings identified during genomic testing of children. The ACMG published a statement in 2013, and again in 2021, recommending disclosing secondary findings to all individuals, including the families of pediatric patients, as the body of evidence in support of such disclosure has accumulated. In a recent study in Genetics in Medicine, “Genomic tools for health: Secondary findings as findings to be shared,” researchers evaluated parents’ potential responses to receiving secondary findings about their child. Skye Miner, PhD, assistant professor of bioethics and medical humanities at University of Arkansas for Medical Sciences, joined GenePod to discuss the results of the survey and their implications for disclosing secondary findings identified in children.

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      References

        • Miller D.T.
        • Lee K.
        • Gordon A.S.
        • et al.
        Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
        Genet Med. 2021; 23: 1391-1398https://doi.org/10.1038/s41436-021-01171-4
        • Wade C.H.
        • Tarini B.A.
        • Wilfond B.S.
        Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice.
        Annu Rev Genomics Hum Genet. 2013; 14: 535-555https://doi.org/10.1146/annurev-genom-091212-153425
        • Borry P.
        • Stultiens L.
        • Nys H.
        • Cassiman J.J.
        • Dierickx K.
        Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers.
        Clin Genet. 2006; 70: 374-381https://doi.org/10.1111/j.1399-0004.2006.00692.x
        • Feinberg J.
        The Child’s right to an open future.
        in: Aiken W. LaFollette H. Whose Child? Rowman & Littlefield, 1980
        • Clayton E.W.
        • McCullough L.B.
        • Biesecker L.G.
        • et al.
        Addressing the ethical challenges in genetic testing and sequencing of children.
        Am J Bioeth. 2014; 14: 3-9https://doi.org/10.1080/15265161.2013.879945
        • Borry P.
        • Goffin T.
        • Nys H.
        • Dierickx K.
        Predictive genetic testing in minors for adult-onset genetic diseases.
        Mt Sinai J Med. 2008; 75: 287-296https://doi.org/10.1002/msj.20038
        • Garrett J.R.
        • Lantos J.D.
        • Biesecker L.G.
        • et al.
        Rethinking the “open future” argument against predictive genetic testing of children.
        Genet Med. 2019; 21: 2190-2198https://doi.org/10.1038/s41436-019-0483-4
        • McCullough L.B.
        • Brothers K.B.
        • Chung W.K.
        • et al.
        Professionally responsible disclosure of genomic sequencing results in pediatric practice.
        Pediatrics. 2015; 136: e974-e982https://doi.org/10.1542/peds.2015-0624
        • McConkie-Rosell A.
        • Spiridigliozzi G.A.
        “Family matters”: a conceptual framework for genetic testing in children.
        J Genet Couns. 2004; 13: 9-29https://doi.org/10.1023/B:JOGC.0000013379.90587.ef
        • Parker M.
        Genetic testing in children and young people.
        Fam Cancer. 2010; 9: 15-18https://doi.org/10.1007/s10689-009-9272-6
        • Savulescu J.
        Predictive genetic testing in children.
        Med J Aust. 2001; 175: 379-381https://doi.org/10.5694/j.1326-5377.2001.tb143625.x
        • Committee on Bioethics
        Committee on Genetics, American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children.
        Pediatrics. 2013; 131: 620-622https://doi.org/10.1542/peds.2012-3680
        • Kalia S.S.
        • Adelman K.
        • Bale S.J.
        • et al.
        Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
        Genet Med. 2017; 19 (Published correction appears in Genet Med. 2017;19(4):484): 249-255
        • Miller D.T.
        • Lee K.
        • Chung W.K.
        • et al.
        ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
        Genet Med. 2021; 23 (Published correction appears in Genet Med. 2021;23(8):1582-1584): 1381-1390
        • Wakefield C.E.
        • Hanlon L.V.
        • Tucker K.M.
        • et al.
        The psychological impact of genetic information on children: a systematic review.
        Genet Med. 2016; 18: 755-762https://doi.org/10.1038/gim.2015.181
        • Wade C.H.
        • Wilfond B.S.
        • McBride C.M.
        Effects of genetic risk information on children’s psychosocial wellbeing: a systematic review of the literature.
        Genet Med. 2010; 12: 317-326https://doi.org/10.1097/GIM.0b013e3181de695c
        • Meiser B.
        • Gleeson M.A.
        • Tucker K.M.
        Psychological impact of genetic testing for adult onset disorders. an update for clinicians.
        Med J Aust. 2000; 172: 126-129https://doi.org/10.5694/j.1326-5377.2000.tb127938.x
        • Mand C.
        • Gillam L.
        • Delatycki M.B.
        • Duncan R.E.
        Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments.
        J Med Ethics. 2012; 38: 519-524https://doi.org/10.1136/medethics-2011-100055
        • Tibben A.
        • Dondorp W.
        • Cornelis C.
        • et al.
        Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy.
        Eur J Hum Genet. 2021; 29: 911-919https://doi.org/10.1038/s41431-020-00794-6
        • Rosell A.M.
        • Pena L.D.
        • Schoch K.
        • et al.
        Not the end of the odyssey: parental perceptions of whole exome sequencing (WES) in pediatric undiagnosed disorders.
        J Genet Couns. 2016; 25: 1019-1031https://doi.org/10.1007/s10897-016-9933-1
        • Sapp J.C.
        • Dong D.
        • Stark C.
        • et al.
        Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children.
        Clin Genet. 2014; 85: 120-126https://doi.org/10.1111/cge.12254
        • Cornelis C.
        • Tibben A.
        • Dondorp W.
        • et al.
        Whole-exome sequencing in pediatrics: parents’ considerations toward return of unsolicited findings for their child.
        Eur J Hum Genet. 2016; 24: 1681-1687https://doi.org/10.1038/ejhg.2016.100
        • Anderson J.A.
        • Meyn M.S.
        • Shuman C.
        • et al.
        Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?.
        J Med Ethics. 2017; 43: 535-539https://doi.org/10.1136/medethics-2016-103564
      1. Engaging adolescents in decisions about return of genomic research results. ClinicalTrials.gov identifier: NCT04481061. Updated February 25, 2022. Accessed August 11, 2022. https://clinicaltrials.gov/ct2/show/NCT04481061

        • Pervola J.
        • Myers M.F.
        • McGowan M.L.
        • Prows C.A.
        Giving adolescents a voice: the types of genetic information adolescents choose to learn and why.
        Genet Med. 2019; 21: 965-971https://doi.org/10.1038/s41436-018-0320-1
        • Weiss R.S.
        Learning Form Strangers: The Art and Method of Qualitative Interview Studies.
        Simon & Schuster, 1995
        • Tavory I.
        • Timmermans S.
        Abductive Analysis: Theorizing Qualitative Research.
        University of Chicago Press, 2014
        • Vears D.F.
        • Borry P.
        • Savulescu J.
        • Koplin J.J.
        Old challenges or new issues? Genetic health professionals’ experiences obtaining informed consent in diagnostic genomic sequencing.
        AJOB Empir Bioeth. 2021; 12: 12-23https://doi.org/10.1080/23294515.2020.1823906
        • Mand C.
        • Gillam L.
        • Duncan R.E.
        • Delatycki M.B.
        It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions.
        Genet Med. 2013; 15: 643-649https://doi.org/10.1038/gim.2013.15
        • Duncan R.E.
        Predictive genetic testing in young people: when is it appropriate?.
        J Paediatr Child Health. 2004; 40: 593-595https://doi.org/10.1111/j.1440-1754.2004.00481.x
        • McGowan M.L.
        • Prows C.A.
        • DeJonckheere M.
        • Brinkman W.B.
        • Vaughn L.
        • Myers M.F.
        Adolescent and parental attitudes about return of genomic research results: focus group findings regarding decisional preferences.
        J Empir Res Hum Res Ethics. 2018; 13: 371-382https://doi.org/10.1177/1556264618776613
        • Popejoy A.B.
        • Fullerton S.M.
        Genomics is failing on diversity.
        Nature. 2016; 538: 161-164https://doi.org/10.1038/538161a
        • Kotila L.E.
        • Schoppe-Sullivan S.J.
        • Dush C.M.K.
        Time in parenting activities in dual-earner families at the transition to parenthood.
        Fam Relat. 2013; 62: 795-807https://doi.org/10.1111/fare.12037