This article reviews evolving legal implications for clinicians and researchers as genomics is used more widely in both the clinic and in translational research, reflecting rapid changes in scientific knowledge as well as the surrounding cultural and political environment. Professionals will face new and changing duties to make or act upon a genetic diagnosis, address direct-to-consumer genetic testing in patient care, consider the health implications of results for patients’ family members, and recontact patients when test results change over time. Professional duties in reproductive genetic testing will need to be recalibrated in response to disruptive changes to reproductive rights in the United States. We also review the debate over who controls the flow of genetic information and who is responsible for its protection, considering the globally influential European Union General Data Protection Regulation and the rapidly evolving data privacy law landscape of the United States.


Article metrics loading...

Loading full text...

Full text loading...


Literature Cited

  1. 1.
    23andMe 2022. 23andMe for healthcare professionals. 23andMe https://medical.23andme.com
    [Google Scholar]
  2. 2.
    ABC v. St George's Healthcare NHS Trust and Others, EWHC 455 (QB) 2020.)
  3. 3.
    Ackerman SL, Koenig BA. 2018. Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories. AJOB Empir. Bioeth. 9:48–57
    [Google Scholar]
  4. 4.
    ACMG Board Dir 2015. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet. Med. 17:68–69
    [Google Scholar]
  5. 5.
    ACMG Board Dir 2019. The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 21:1467–68
    [Google Scholar]
  6. 6.
    Appelbaum PS, Parens E, Berger SM, Chung WK, Burke W. 2020. Is there a duty to reinterpret genetic data? The ethical dimensions. Genet. Med. 22:633–39
    [Google Scholar]
  7. 7.
    Bartlett G, Avard D, Knoppers BM. 2013. A new twist on an old problem: primary care physicians and results from direct-to-consumer genetic testing. Pers. Med. 10:827–33
    [Google Scholar]
  8. 8.
    Bentzen HB, Castro R, Fears R, Griffin G, Ter Meulen V, Ursin G. 2021. Remove obstacles to sharing health data with researchers outside of the European Union. Nat. Med. 27:1329–33
    [Google Scholar]
  9. 9.
    Berger SM, Appelbaum PS, Siegel K, Wynn J, Saami AM et al. 2022. Challenges of variant reinterpretation: opinions of stakeholders and need for guidelines. Genet. Med. 24:1878–87
    [Google Scholar]
  10. 10.
    Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM et al. 2006. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol. 5:488–92
    [Google Scholar]
  11. 11.
    Bollinger JM, Sanka A, Dolman L, Liao RG, Cook-Deegan R. 2019. BRCA1/2 variant data-sharing practices. J. Law Med. Ethics 47:88–96
    [Google Scholar]
  12. 12.
    Bombard Y, Brothers KB, Fitzgerald-Butt S, Garrison NA, Jamal L et al. 2019. The responsibility to recontact research participants after reinterpretation of genetic and genomic research results. Am. J. Hum. Genet. 104:578–95
    [Google Scholar]
  13. 13.
    Burke W, Clayton EW, Wolf SM, Berry SA, Evans BJ et al. 2019. Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines. Genet. Med. 21:2431–38
    [Google Scholar]
  14. 14.
    Chisholm C, Daoud H, Ghani M, Mettler G, McGowan-Jordan J et al. 2018. Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines. Genet. Med. 20:365–68
    [Google Scholar]
  15. 15.
    Clayton EW. 1998. What should the law say about disclosure of genetic information to relatives?. J. Health Care Law Policy 1:373–90
    [Google Scholar]
  16. 16.
    Clayton EW. 2015. How much control do children and adolescents have over genomic testing, parental access to their results, and parental communication of those results to others?. J. Law Med. Ethics 43:538–44
    [Google Scholar]
  17. 17.
    Clayton EW, Evans BJ, Hazel JW, Rothstein MA. 2019. The law of genetic privacy: applications, implications, and limitations. J. Law Biosci. 6:1–36
    [Google Scholar]
  18. 18.
    Coldewey D. 2022. Ultima Genomics claims $100 full genome sequencing after stealth $600M raise. TechCrunch May 31. https://techcrunch.com/2022/05/31/ultima-genomics-claims-100-full-genome-sequencing-after-stealth-600m-raise
    [Google Scholar]
  19. 19.
    Collins F. 2010. The Language of Life: DNA and the Revolution in Personalized Medicine New York: Harper
    [Google Scholar]
  20. 20.
    Cook-Deegan R, Conley JM, Evans JP, Vorhaus D. 2013. The next controversy in genetic testing: clinical data as trade secrets?. Eur. J. Hum. Genet. 21:585–88
    [Google Scholar]
  21. 21.
    de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C et al. 2021. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 29:365–77
    [Google Scholar]
  22. 22.
    Dir.-Gen. Health Food Saf 2021. Assessment of the EU Member States’ rules on health data in the light of GDPR Rep. Eur. Comm. Brussels, Belg: https://health.ec.europa.eu/system/files/2021-02/ms_rules_health-data_en_0.pdf
    [Google Scholar]
  23. 23.
    Dobbs v. Jackson Women's Health Organization, No. 19-1392, 597 U.S. ___ 2022.)
  24. 24.
    Dukhovny S, Norton ME. 2018. What are the goals of prenatal genetic testing?. Semin. Perinatol. 42:270–74
    [Google Scholar]
  25. 25.
    Economist 2019. A not-so-merry dance. Economist Sept. 28 73–74
    [Google Scholar]
  26. 26.
    Edelman G. 2022. Don't look now, but Congress might pass an actually good privacy bill. Wired July 21. https://www.wired.com/story/american-data-privacy-protection-act-adppa
    [Google Scholar]
  27. 27.
    Eur. Comm 2022. European health data space. European Commission https://health.ec.europa.eu/ehealth-digital-health-and-care/european-health-data-space_en
    [Google Scholar]
  28. 28.
    Evans BJ, Javitt G, Hall R, Robertson M, Ossorio P et al. 2020. How can law and policy advance quality in genomic analysis and interpretation for clinical care?. J. Law Med. Ethics 48:44–68
    [Google Scholar]
  29. 29.
    Fed. Trade Comm 2021. FTC votes to update rulemaking procedures, sets stage for stronger deterrence of corporate misconduct Press Release, July 1 Fed. Trade Comm. Washington, DC: https://www.ftc.gov/news-events/news/press-releases/2021/07/ftc-votes-update-rulemaking-procedures-sets-stage-stronger-deterrence-corporate-misconduct
    [Google Scholar]
  30. 30.
    Fed. Trade Comm 2022. Trade regulation rule on commercial surveillance and data security 87 Fed. Reg. 51273
    [Google Scholar]
  31. 31.
    Gerke S, Minssen T, Cohen G 2020. Ethical and legal challenges of artificial intelligence-driven healthcare. Artificial Intelligence in Healthcare A Bohr, K Memarzadeh 295–336. London: Academic
    [Google Scholar]
  32. 32.
    Glaubitz A. 2021. How should liability be attributed for harms caused by biases in Artificial Intelligence? BA Thesis Yale Univ. New Haven, CT: https://politicalscience.yale.edu/sites/default/files/glaubitz_alina.pdf
    [Google Scholar]
  33. 33.
    Green RC, Berg JS, Grody WW, Kalia SS, Korf BR et al. 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15:565–74
    [Google Scholar]
  34. 34.
    Grimes v. Kennedy Krieger Institute Inc., 782 A.2d 807 (Md. Ct. App 2001.)
  35. 35.
    Guerrini CJ, Wagner JK, Nelson SC, Javitt GH, McGuire AL. 2020. Who's on third? Regulation of third-party genetic interpretation services. Genet. Med. 22:4–11
    [Google Scholar]
  36. 36.
    Guttmacher Inst 2022. Abortion bans in cases of sex or race selection or genetic anomaly. Guttmacher Institute https://www.guttmacher.org/state-policy/explore/abortion-bans-cases-sex-or-race-selection-or-genetic-anomaly
    [Google Scholar]
  37. 37.
    Halverson CME, Bland ST, Leppig KA, Marasa M, Myers M et al. 2020. Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience. Genet. Med. 22:1667–72
    [Google Scholar]
  38. 38.
    Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT et al. 2007. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130:843–52
    [Google Scholar]
  39. 39.
    Harris KW, Brelsford KM, Kavanaugh-McHugh A, Clayton EW 2020. Uncertainty of prenatally diagnosed congenital heart disease: a qualitative study. JAMA Netw. Open 3:e204082
    [Google Scholar]
  40. 40.
    Harris LH. 2022. Navigating loss of abortion services—a large academic medical center prepares for the overturn of Roe v. Wade. N. Engl. J. Med. 386:2061–64
    [Google Scholar]
  41. 41.
    Heil R, Heyen NB, Baumann M, Hüsing B, Bachlechner D et al. 2021. Artificial intelligence in human genomics and biomedicine: dynamics, potentials and challenges. TATuP 30:30–36
    [Google Scholar]
  42. 42.
    Henrikson NB, Wagner JK, Hampel H, DeVore C, Shridhar N et al. 2020. What guidance does HIPAA offer to providers considering familial risk notification and cascade genetic testing?. J. Law Biosci. 7:lsaa071
    [Google Scholar]
  43. 43.
    Henry TA. 2021. Protect sensitive individual data at risk from DTC genetic tests. American Medical Association Nov. 16. https://www.ama-assn.org/delivering-care/patient-support-advocacy/protect-sensitive-individual-data-risk-dtc-genetic-tests
    [Google Scholar]
  44. 44.
    Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R et al. 2010. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. J. Med. Genet. 47:137–41
    [Google Scholar]
  45. 45.
    Hoell C, Wynn J, Rasmussen LV, Marsolo K, Aufox SA et al. 2020. Participant choices for return of genomic results in the eMERGE Network. Genet. Med. 22:1821–29
    [Google Scholar]
  46. 46.
    Kennedy Krieger v. Partlow, 191 A.3d 425 (Md. Ct. App 2018.)
  47. 47.
    Kerry CF. 2022. Federal privacy negotiators should accept victory gracefully. Brookings Aug. 12. https://www.brookings.edu/blog/techtank/2022/08/12/federal-privacy-negotiators-should-accept-victory-gracefully
    [Google Scholar]
  48. 48.
    Khullar D, Casalino LP, Qian Y, Lu Y, Chang E, Aneja S 2021. Public versus physician views of liability for artificial intelligence in health care. J. Am. Med. Inform. Assoc. 28:1574–77
    [Google Scholar]
  49. 49.
    Kim MS, Naidoo D, Hazra U, Quiver MH, Chen WC et al. 2022. Testing the generalizability of ancestry-specific polygenic risk scores to predict prostate cancer in sub-Saharan Africa. Genome Biol. 23:194
    [Google Scholar]
  50. 50.
    Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M et al. 2019. A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants. Am. J. Hum. Genet. 105:719–33
    [Google Scholar]
  51. 51.
    Kiseleva A, Quinn P. 2021. Are you AI's favorite? EU legal implications of biased AI systems in clinical genetics and genomics. Eur. Pharm. Law Rev. 5:155–74
    [Google Scholar]
  52. 52.
    Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST et al. 2017. Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J. Clin. Oncol. 35:2232
    [Google Scholar]
  53. 53.
    Larose CJ, Hiraki KK. 2022. California Privacy Protection Agency unanimously opposes the American Data Privacy and Protection Act. National Law Review Aug. 2. https://www.natlawreview.com/article/california-privacy-protection-agency-unanimously-opposes-american-data-privacy-and
    [Google Scholar]
  54. 54.
    Lewis ACF, Knoppers BM, Green RC. 2021. An international policy on returning genomic research results. Genome Med. 13:115
    [Google Scholar]
  55. 55.
    Lewis CM, Vassos E. 2020. Polygenic risk scores: from research tools to clinical instruments. Genome Med. 12:44
    [Google Scholar]
  56. 56.
    Liss v. Watters, 2010. QCCS 3309, rev'd Watters v. White, 2012 QCCA 257, leave to appeal to SCC refused. 34758 (Aug. 20, 2012)
  57. 57.
    Maliha G, Gerke S, Cohen IG, Parikh RB. 2021. Artificial intelligence and liability in medicine: balancing safety and innovation. Milbank Q. 99:629–47
    [Google Scholar]
  58. 58.
    Marchant GE, Barnes M, Clayton EW, Wolf SM 2021. Liability implications of direct-to-consumer genetic testing. Consumer Genetic Technologies: Ethical and Legal Considerations C Shachar, HT Greely, IG Cohen, NA Farahany 15–25. Cambridge, UK: Cambridge Univ. Press
    [Google Scholar]
  59. 59.
    Marchant GE, Barnes M, Evans JP, LeRoy B, Wolf SM (LawSeq Liabil. Task Force). 2020. From genetics to genomics: facing the liability implications in clinical care. J. Law Med. Ethics 48:11–43
    [Google Scholar]
  60. 60.
    Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ. 2019. Current clinical use of polygenic scores will risk exacerbating health disparities. Nat. Genet. 51:584
    [Google Scholar]
  61. 61.
    Matheny M, Israni ST, Ahmed M, Whicher D, eds. 2019. AI in Health Care: The Hope, the Hype, the Promise, the Peril Washington, DC: Natl. Acad. Med.
    [Google Scholar]
  62. 62.
    Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S et al. 2022. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository. J. Med. Genet. 59:571–78
    [Google Scholar]
  63. 63.
    Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K et al. 2019. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet. Med. 21:987–93
    [Google Scholar]
  64. 64.
    Miller AR, Tucker C. 2018. Privacy protection, personalized medicine, and genetic testing. Manag. Sci. 64:4648–68
    [Google Scholar]
  65. 65.
    Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K et al. 2022. ACMG SF v3.1 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. 24:1407–14
    [Google Scholar]
  66. 66.
    Miller DT, Lee K, Chung WK, Gordon AS, Herman GE et al. 2021. 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. 23:1381–90
    [Google Scholar]
  67. 67.
    Minssen T, Gerke S, Aboy M, Price N, Cohen G. 2020. Regulatory responses to medical machine learning. J. Biosci. 7:lsaa002
    [Google Scholar]
  68. 68.
    Molloy v. Meier, 679 N.W.2d 711 (Minn 2004.)
  69. 69.
    Molteni M. 2018. Now you can sequence your whole genome for just $200. Wired Nov. 19. https://www.wired.com/story/whole-genome-sequencing-cost-200-dollars
    [Google Scholar]
  70. 70.
    Moscarello T, Murray B, Reuter CM, Demo E. 2019. Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?. Genet. Med. 21:539–41
    [Google Scholar]
  71. 71.
    Natl. Inst. Health 2023. Data management and sharing policy. National Institutes of Health https://sharing.nih.gov/data-management-and-sharing-policy
    [Google Scholar]
  72. 72.
    Pate v. Threlkel, 661 So.2d 278 (Fla 1995.)
  73. 73.
    Pergament D, Ilijic K. 2014. The legal past, present and future of prenatal genetic testing: professional liability and other legal challenges affecting patient access to services. J. Clin. Med. 3:1437–65
    [Google Scholar]
  74. 74.
    Phillips KA, Deverka PA, Hooker GW, Douglas MP. 2018. Genetic test availability and spending: Where are we now? Where are we going?. Health Aff. 37:710–16
    [Google Scholar]
  75. 75.
    Polaris J, Newman N, Levy A. 2022. Post-Dobbs considerations for provider organizations: navigating state restrictions on abortion. Manatt Aug. 29. https://www.manatt.com/insights/white-papers/2022/post-dobbs-considerations-for-provider-organizatio
    [Google Scholar]
  76. 76.
    Popejoy AB, Fullerton SM. 2016. Genomics is failing on diversity. Nat. News 538:161
    [Google Scholar]
  77. 77.
    Reilly PR. 1997. Genetic information in families: rethinking confidentiality. Microb. Comp. Genom. 2:7–17
    [Google Scholar]
  78. 78.
    Rothstein MA. 2018. Reconsidering the duty to warn genetically at-risk relatives. Genet. Med. 20:285–90
    [Google Scholar]
  79. 79.
    Rothstein MA, Siegal G. 2011. Health information technology and physicians’ duty to notify patients of new medical developments. Houst. J. Health Law Policy 12:93–136
    [Google Scholar]
  80. 80.
    Rust v. Sullivan, 500 U.S. 173 1991.)
  81. 81.
    Safer v. Pack, 677 A.2d 1188 (N.J. Super 1996.)
  82. 82.
    Singh P, McIntyre A, O'Connor S, Scacalossi K, Acosta-Ruiz A 2019. Increasing use of genetic data requires new privacy considerations. J. Sci. Policy Gov. 15: https://www.sciencepolicyjournal.org/uploads/5/4/3/4/5434385/singh_mcintyre_o’connor_etal_jspg_v15.pdf
    [Google Scholar]
  83. 83.
    Spector-Bagdady K, Prince AE, Yu JH, Appelbaum PS. 2018. Analysis of state laws on informed consent for clinical genetic testing in the era of genomic sequencing. Am. J. Med. Genet. C 178:81–88
    [Google Scholar]
  84. 84.
    Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL et al. 2019. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet. Med. 21:2413–21
    [Google Scholar]
  85. 85.
    Thorogood A, Cook-Deegan R, Knoppers BM. 2017. Public variant databases: liability?. Genet. Med. 19:838–41
    [Google Scholar]
  86. 86.
    Univ. Minn., Vanderbilt Univ. Med. Cent 2022. State law search. LawSeqSM https://lawseq.umn.edu/state-search
    [Google Scholar]
  87. 87.
    US Dep. Health Hum. Serv 2009. Under the HIPAA Privacy Rule, may a health care provider disclose protected health information about an individual to another provider, when such information is requested for the treatment of a family member of the individual?. US Department of Health and Human Services https://www.hhs.gov/hipaa/for-professionals/faq/512/under-hipaa-may-a-health-care-provider-disclose-information-requested-for-treatment
    [Google Scholar]
  88. 88.
    Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A et al. 2016. Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records. JAMA 315:47–57
    [Google Scholar]
  89. 89.
    Vassy JL, Christensen KD, Slashinski MJ, Lautenbach DM, Raghavan S et al. 2015.. ‘ Someday it will be the norm’: physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project. Pers. Med. 12:23–32
    [Google Scholar]
  90. 90.
    Williams v. Quest Diagnostics, 353 F. Supp. 3d 432 (D.S.C 2018.)
  91. 91.
    Wolf SM, Amendola LM, Berg JS, Chung WK, Clayton EW et al. 2018. Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium. Genet. Med. 20:545–53
    [Google Scholar]
  92. 92.
    Wright EE. 1978. Father and mother know best: defining the liability of physicians for inadequate genetic counseling. Yale Law J. 87:1488–515
    [Google Scholar]
  93. 93.
    Tsukayama H, Schwartz A, McKinney I, Tien L. 2022. Americans deserve more than the current American Data Privacy Protection Act. Electronic Frontier Foundation July 24. https://www.eff.org/deeplinks/2022/07/americans-deserve-more-current-american-data-privacy-protection-act
    [Google Scholar]
  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error