Lessons learned during the process of reporting individual genomic outcomes for participants in a population-based biobank

  • de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2021; 29: 365–77.

    Article – Commodity

    Google Scholar

  • Lewis ACF, Knoppers BM, Green RC. An international policy on repatriation of genomic research results. Genome Med. 2021; 13:115.

    Article – Commodity

    Google Scholar

  • Wolf SM, Lawrenz FP, Nelson CA, Kahn JP, Cho MK, Clayton EW et al. Managing incidental outcomes in human subjects research: analysis and recommendations. J Law Med Ethics. 2008; 36: 219-48.

    Article – Commodity

    Google Scholar

  • Budin-ljøsne I, Mascalzoni D, Soini S, Machado H, Kaye J, Bentzen HB et al. Comments on individual genetic findings of research participants: is this possible in Europe? Biopreserv Biobank. 2016; 14: 241–8.

    Article – Commodity

    Google Scholar

  • West KM, Blacksher E, Cavanaugh KL, Fullerton SM, Umeukeje EM, Young BA, et al. At the clinical research interface: returning individual genetic findings to research participants. Clin J Am Soc Nephrol. 2020; 15: 1181-9.

    Article – Commodity

    Google Scholar

  • Middleton A, Morley K, Braggin E, Firth HV, Hurls ME, Wright CF, et al. Attitudes of nearly 7,000 health professionals, genomic researchers, and the public toward the return of incidental findings from sequencing research. Eur J Hum Genet. 2015; 24: 1-9.

    Google Scholar

  • Vears DF, Minion JT, Roberts SJ, Cummings J, Machirori M, Blell M et al. Returning individual search results from genomic research: a systematic review of stakeholder perspectives. One Plus. 2021; 16: e0258646.

    Article – Commodity

    Google Scholar

  • Wilkins CH, Mapis BM, Jerome RN, Velalta Fifth Generation, Pulley GM, Harris PA. Understand what information research participants value, and why. Health Aff. 2019; 38: 399-407.

    Article – Commodity

    Google Scholar

  • Facio FM, Brooks S, Loewenstein J, Green S, Biesecker LG, Biesecker BB. Motivations to participate in a whole genome sequencing study: implications for translational genomics research. Eur J Hum Genet. 2011; 19: 1213-7.

    Article – Commodity

    Google Scholar

  • Mcguire AL, Majumder MA, Villanueva AG, Bardill J, Juli M, Boerwinkle E et al. The importance of focusing on participants and trusting the commons of sustainable medical information. J Law Med Ethics. 2019; 47: 12-20.

    Article – Commodity

    Google Scholar

  • Botkin Jr., Mancher M, Busta Air, Downey S. Returning individual search results to participants: Guidelines for a new search form. Washington, D.C.: National Academies Press; 2018.

  • Milne R, Morley KI, Almarri MA, Atutornu J, Baranova EE, Bevan P et al. The return of genomic findings does not motivate the intent to participate in research for all: Perspectives across 22 countries. Genet Mead. 2022; 24: 1120-9.

    Article – Commodity

    Google Scholar

  • Sotsiaalministeerium. Eesti Elanike teadmised, hoiakud, kartused ja ootused personaalmeditsiini osas Uuringuaruanne Kevad 2015 [Internet]. Sotsiaalministeerium. 2015. Available from: http://sm.ee/et/personaalmeditsiini-juhtprojekti-eeluuring.

  • Alver M, Palover M, Saar A, Läll K, Zekavat SM, Tõnisson N et al. Retrieved by genotyping and serial screening for familial hypercholesterolemia in a population-based biobank from Estonia. Genet Mead. 2018; 21: 1173-80.

  • Leitsalu L, Palover M, Sikka TT, Reigo A, Kals M, Parn K et al. A first genotyping approach to hereditary breast and ovarian cancer risk detection, and implications for risk disclosure for biobank participants. Eur J Hum Genet. 2021; 29: 471-81.

  • Leitsalu L, Alavere H, Jacquemont S, Kolk A, Maillard AM, Reigo A, et al. Report incidental findings of copy number variants associated with genetic perturbation to non-selected biobank participants. for each med. 2016; 13:303-14.

  • Haukkala A, Kujala E, Alha P, Salomaa V, Koskinen S, Swan H et al. An unexpected return of research leads to a biobank study and referral to healthcare for inherited long QT syndrome. Public Health Genomics. 2013; 16: 241-50.

    Article – Commodity

    Google Scholar

  • Bout Zawatsky CL, Shah N, Machini K, Perez E, Christensen KD, Zouk H et al. Recreating Actionable Genomic Results in a Research Biobank: Analytical Validity, Clinical Implementation, and Resource Use. I’m J Hum Genet. 2021; 12: 2224–37.

  • Leitsalu L, Haller T, Esko T, Tammesoo ML, Alavere H, Snieder H, et al. Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. Int J Epidemiol. 2015; 44: 1137-1147.

  • Riigikogu. Human Gene Research Act [Internet]. 2000 [cited 2014 Jun 27]. Available from: https://www.riigiteataja.ee/en/eli/531102013003/consolide.

  • Leitsalu L, Alavere H, Tammesoo M, Leego E, Metspalu A. Linking the population biobank to national health records – the Estonian experience. J Pierce Med. 2015; 5: 96-106.

    Article – Commodity

    Google Scholar

  • Läll K, Mägi R, Morris A, Metspalu A, Fischer K. Personal risk prediction for type 2 diabetes: Probability of genetic risk scores. Genet Mead. 2017; 19: 322-9.

    Article – Commodity

    Google Scholar

  • Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V et al. Large-scale association analysis provides insight into the genetic structure and pathophysiology of type 2 diabetes. Nat genetics. 2012; 44:981-90.

    Article – Commodity

    Google Scholar

  • Abraham J, Havulinna S, Bhalala OG, Piers SG, de Livra AM, Yutokuri L, et al. Genetic prediction of coronary heart disease. Your Heart J 2016; 37: 3267–78.

    Article – Commodity

    Google Scholar

  • Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, et al. Extensive genomic analyzes link reproductive aging with hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015; 47: 1294-303.

    Article – Commodity

    Google Scholar

  • Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP et al. ACMG Statement Recommendations for Reporting Secondary Findings in Clinical Exome and Genome Sequencing, 2016 Update (ACMG SF v2.0): Policy Statement of the American College of Medical Genetics and Genomics. Genet Mead. 2017; 19: 249-55.

  • Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S et al. ClinVar: Improved Access to Diverse Interpretations and Supporting Evidence. Res nucleic acids. 2018; 46: D1062–7.

    Article – Commodity

    Google Scholar

  • Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q et al. Mutational restriction spectrum quantified from variation in 141,456 individuals. temper nature. 2020; 581: 434–43.

    Article – Commodity

    Google Scholar

  • Reisberg S, Krebs K, Lepamets M, Kals M, Mägi R, Metsalu K et al. Translating the genetic makeup data of 44,000 biobank participants into clinical pharmacogenetics recommendations: challenges and solutions. Genet Mead. 2019; 21: 1245–54.

  • JM Barbarino, M. Whirl Carrillo, Altman RB, Klein TE. PharmGKB: A global resource for drug genetic information. Wiley Interdiscip Rev. Syst Biol Med. 2018; 10: e1417.

    Article – Commodity

    Google Scholar

  • Rilling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium for the Pharmacogenomics Research Network. Clean Pharm is there. 2011; 89: 464-7.

    Article – Commodity

    Google Scholar

  • Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, et al. Social and behavioral research in genetic sequencing: approaches from the Exploratory Clinical Sequencing Outcomes and Measures Consortium’s Outcomes and Measures Working Group. Genet Mead. 2014; 16: 727–35.

    Article – Commodity

    Google Scholar

  • Marteau TM, Bekker H. Development of a short six-item model of the Spielberger State Anxiety Inventory (STAI) short-form state scale. Br J Clin Psychol. 1992; 31:301-6.

    Article – Commodity

    Google Scholar

  • Brehaut JC, O’Connor AM, Wood TJ, Hack TF, Siminoff L, Gordon E et al. Endorsement of the decision regret scale. Med Desi Mac. 2003; 23: 281-92.

    Article – Commodity

    Google Scholar

  • Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M. Development of a conceptual, reproducible, and rules-based assessment approach to consent and disclosure of results for genetic testing by clinicians with a minimal genetic background. Genet Mead. 2019; 21: 727–35.

    Article – Commodity

    Google Scholar

  • Bombard Way, Hymes RZ. How digital tools can enhance quality and equity in genomic medicine. Nat Reeve Genet. 2020; 21: 505-6.

    Article – Commodity

    Google Scholar

  • Widén E, Junna N, Ruotsalainen S, Surakka I, Mars N, Ripatti P, et al. How polygenic communication and clinical risk of atherosclerotic cardiovascular disease affect health behavior: an observational follow-up study. Sir Genome PresisMed. 2022; 15: e003459.

  • Leave a Comment