Automatic Placement of Genomic Research Results in Medical Records: Do Researchers Have a Duty? Should Participants Have a Choice?

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For example, in one prominent study, when researchers discovered serious clinical findings that should be acted upon immediately, they approached participants with the results and offered to call a physician – rather than automatically approaching a physician. Entzel P. , “Add Health Wave IV Documentation Report: Cardiovascular and Anthropometric Measures,” available at <http://www.cpc.unc.edu/projects/addhealth/about/add-health-parent-study> (last visited November 20, 2015). Additionally, disclosure of clinical research results for treatment of a participant is not a routine use of results by the NIH. See <http://oma.od.nih.gov/public/ms/privacy/pafiles/0200.htm> (last visited November 20, 2015).

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Wolf S. M. , “Return of Individual Research Results and Incidental Findings: Facing the Challenges of Translational Science,” Annual Review of Genomics & Human Genetics 14 (2013): 557–577, at 566.

Green E. D. Guyer M. S. Nhgri , “Charting a Course for Genomic Medicine from Base Pairs to Bedside,” Nature 470, no. 7333 (2011): 204–213.

National Human Genome Research Institute, National Institutes of Health, “Electronic Medical Records and Genomics (eMERGE) Network,” available at <http://www.genome.gov/27540473> (last visited November 20, 2015); Note: The current funded sites are the University of Washington, Marsh-field Clinic, Mayo Clinic, Northwestern University, Vanderbilt University, Geisinger, Mount Sinai School of Medicine, Children's Hospital of Philadelphia, and Cincinnati Children's Hospital Medical Center.

National Human Genome Research Institute, National Institutes of Health, “Clinical Sequencing Exploratory Research (CSER),” available at <http://www.genome.gov/27546194> (last visited November 20, 2015).

The funded projects are Baylor College of Medicine, Brigham and Women's Hospital, Children's Hospital of Philadelphia, Dana-Farber Cancer Institute, University of North Carolina at Chapel Hill, University of Washington, Hudson-Alpha Institute for Biotechnology, Kaiser Foundation Research Institute, and University of Michigan. See “Grantees of the Program,” available at <http://www.genome.gov/27546194#al-2> (last visited November 20, 2015).

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Id., at 59–60.

Wolf S. M. , “The Past, Present, and Future of the Debate over Return of Research Results and Incidental Findings,” Genetics in Medicine 14, no. 4 (2012): 355–357, at 355.

Pike E. Rothenberg K. Berkman B. , “Finding Fault?: Exploring Legal Duties to Return Incidental Findings in Genomic Research,” Georgetown Law Journal 102, no. 3 (2013): 795–843; McGuire A. L. , “Can I Be Sued for That? Liability Risk and the Disclosure of Clinically Significant Genetic Research Findings,” Genome Research 24, no. 5 (2014): 719–723.

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Wolf S. M. , “Managing Incidental Findings and Research Results in Genomic Research Involving Biobanks and Archived Data Sets,” Genetics in Medicine 14, no. 4 (2012): 361–384, at 364 (defining individual research results as “a finding concerning an individual contributor that has potential health or reproductive importance and is discovered in the course of research, when the finding is on the focal variables under study in meeting the stated aims of the research project” and defining incidental findings as “finding[s] concerning an individual research participant…that has potential health or reproductive importance and is discovered in the course of conducting research but is beyond the aims of the study.”). In this paper, when we refer to research findings as it relates to placement in the medical records, we are referring to both primary and, if any, incidental findings since both raise similar concerns as it relates to transferring information from the research to clinical realm.

Dewey F. E. , “Clinical Interpretation and Implications of Whole-Genome Sequencing,” JAMA 311, no. 10 (2014): 1035–1045; Plon S. E. , “Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results,” Human Mutation 29, no. 11 (2008): 1282–1291.

See, e.g., Jarvik G. P. , “Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices in Between,” American Journal of Human Genetics 94, no. 6 (2014): 818–826; Klitzman R. , “Researchers Views on Return of Incidental Genomic Research Results: Qualitative and Quantitative Findings,” Genetics in Medicine 15, no. 11 (2013): 888–895.

See, e.g., Burke W. , “Clinical Validity and Clinical Utility of Genetic Tests,” Current Protocols in Human Genetics 42, no. 9 (2009): 9.15.11–19.15.17; Cho M. K. , “Understanding Incidental Findings in the Context of Genetics and Genomics,” Journal of Law, Medicine & Ethics 36, no. 2 (2008): 280–285; Secretary's Advisory Committee of Genetic Testing (SACGT), Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT (2000), available at <http://osp.od.nih.gov/sites/default/files/oversight_report.pdf> (last visited November 20, 2015). (defining analytic validity as how well a test measures what it is intended to measure and clinical validity as how well the tests predict a clinical condition or predisposition).

SACGT, supra note 25; Fabsitz R. R. , “Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants Updated Guidelines from a National Heart, Lung, and Blood Institute Working Group,” Circulation Cardiovascular Genetics 3, no. 6 (2010): 574–580, at 575.

Jarvik , supra note 24.

See, e.g., Berg J. S. , “Processes and Preliminary Outputs for Identification of Actionable Genes as Incidental Findings in Genomic Sequence Data in the Clinical Sequencing Exploratory Research Consortium,” Genetics in Medicine 15, no. 11 (2013): 860–867.

Cho , supra note 25, at 282.

Bollinger J. M. , “Public Preferences Regarding the Return of Individual Genetic Research Results: Findings from a Qualitative Focus Group Study,” Genetics in Medicine 14, no. 4 (2012): 451–457.

Shalowitz D. I. Miller F. G. , “Disclosing Individual Results of Clinical Research: Implications of Respect for Participants,” JAMA 294, no. 6 (2005): 737–740; Wolf , supra note 8.

See, e.g., Mathews D. J. Jamal L. , “Revisiting Respect for Persons in Genomic Research,” Genes (Basel) 5, no. 1 (2014): 1–12, at 5.

Shalowitz Miller , supra note 31, at 738 (noting that some results have personal, if not clinical relevance); Fabsitz , supra note 26, at 575 (recommending that actionability is an essential component for return); Dressler L. G. , “IRB Perspectives on the Return of Individual Results from Genomic Research,” Genetics in Medicine 14, no. 2 (2012): 215–222, at 218 (noting that the majority of the surveyed IRB staff felt that clinical utility was an important component of result return); Wolf, supra note 8, at 565 (summarizing the debate of whether reproductively significant results “should be” returned or “may be” returned). If results with personal utility, but no current medical utility, are returned to individuals, then researchers should specifically consider whether these results should be returned in the same manner as clinically useful information – especially if research results are linked directly to medical records.

Fullerton S. M. , “Return of Individual Research Results from Genome-Wide Association Studies: Experience of the Electronic Medical Records and Genomics (eMERGE) Network,” Genetics in Medicine 14, no. 4 (2012): 424–431.

See Section IV.D. (arguing that CLIA may require clinical confirmation when returning individual research results); Miller F. G. Mello M. M. Joffee S. , “Incidental Findings in Human Subjects Research: What Do Investigators Owe Research Participants?” Journal of Law, Medicine & Ethics 36, no. 2 (2008): 271–279, at 278 (arguing that researchers should provide referrals for follow-up when possible); Wolf S. M. Paradise J. Caga-Anan C. , “The Law of Incidental Findings in Human Subjects Research: Establishing Researchers' Duties,” Journal of Law, Medicine & Ethics 36, no. 2 (2008): 361–383, at 378 (noting that researchers should provide appropriate referrals to follow-up care, but that the burden is on the participant to actively pursue the follow-up care).

See Wolf Paradise Caga-Anan , supra note 35, at 378 (arguing that a researcher is not obligated to pay for follow-up care after returning incidental findings).

Kimball B. C. , “Genomic Data in the Electronic Medical Record Perspectives from a Biobank Community Advisory Board,” Journal of Empirical Research on Human Research Ethics 9, no. 5 (2014): 16–24.

Jarvik , supra note 24, at 818.

While individuals can request an amendment to their medical records under the Health Insurance Portability and Accountability Act (HIPAA), a health care provider can deny the request if the information is “accurate and complete,” so it is highly unlikely that an individual could remove research results from a medical record after they were placed there. 45 C.F.R. § 164.526 (2014).

Kimball , supra note 37, at 20.

See, e.g., May T. , “On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,” Journal of Law, Medicine & Ethics 43, no. 1 (2015): 134–142, at 137.

See, e.g., Hazin R. , “Ethical, Legal, and Social Implications of Incorporating Genomic Information into Electronic Health Records,” Genetics in Medicine 15, no. 10 (2013): 810–816; Kho A. N. , “Practical Challenges in Integrating Genomic Data into the Electronic Health Record,” Genetics in Medicine 15, no. 10 (2013): 772–778; Masys D. R. , “Technical Desiderata for the Integration of Genomic Data into Electronic Health Records,” Journal of Biomedical Informatics 45, no. 3 (2012): 419–422.

Shoenbill , supra note 1, at 173–174.

See, e.g., Klitzman R. , “Attitudes and Practices among Internists Concerning Genetic Testing,” Journal of Genetic Counseling 22, no. 1 (2013): 90–100, at 95 (finding that 73.7% of physicians surveryed had very or somewhat poor knowledge of genetics and 87.1% had similar levels of knowledge of guidelines for genetic testing).

See supra, section II.B.; Green, Guyer, and NHGRI, supra note 9.

See, e.g., May, supra note 41 (making a similar argument in the clinical realm regarding the return of incidental findings in clinical genomic sequencing).

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Id., at Opinion 2.07(4))(a).

Id., at Opinion 2.07(5)(a).

Id., at Opinion 2.079(73)(a).

Id., at Opinion 2.079(74).

Id., at Opinion 2.139.

Id., at Opinion 7.05.

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Id., at § II.4.

McGuire , supra note 20, at 719.

Pike Rothenberg Berkman , supra note 20, at 813. A 2002 case from an intermediate Wisconsin appellate court has been suggested to us as a counter-example, but the case did not actually decide the issue of duty to disclose. Ande v. Rock, 256 Wis. 2d. 265, 647 N.W. 2d 265 (Wisc. App. 2002). The plaintiffs were parents of two chldren born with cystic fibrosis. As newborns, the children had been screened for the condition as part of an ongoing research project. Because they were assigned to a control group, neither their parents nor their physicians were told that they had tested positive. In reviewing the dismissal of medical practice claims against various physician researchers, the court found that there was “no allegation in the complaint of any relationships between the Andes and any of the researchers from which one could conclude that [the alleged duties to disclose] arose from a physician-patient relationship,” which foreclosed the malpractice claims.

McGuire , supra note 20, at 719–723.

Pike Rothenberg Berkman , supra note 20, at 811; see also McGuire , supra note 20, at 719.

Pike Rothenberg Berkman , supra note 20, at 816.

Id., at 816–817.

McGuire , supra note 20, at 719.

Id., at 719; Tovino S. A. , “Incidental Findings: A Common Law Approach,” Accountability in Research 15, no. 4 (2008): 242–261.

In Ande, supra note 62, the court suggested that an ordinary negligence claim might be available against researchers who failed to disclose results, even in the absence of a physician-patient relationship that would support a malpractice claim. However, it did not rule on this issue since the plaintiffs had not raised it on appeal.

Pike Rothenberg Berkman , supra note 20, at 820; Tovino , supra note 68, at 251.

E.g., Tovino , supra note 68, at 251–254; McGuire , supra note 20, at 720.

McGuire , supra note 20, at 721.

Conley J. M. , “A Trade Secret Model for Genomic Biobanking,” Journal of Law, Medicine & Ethics 40, no. 3 (2012): 612–629, at 622.

Criteria for IRB Approval of Research. 21 C.F.R. § 56.111 (2014).

Clinical Laboratory Improvement Amendments of 1988 (CLIA), Pub. L. No. 100–578, 102 Stat. 2903 (codified as amended in scattered sections of 42 U.S.C. § 263a).

Siegfried J. D. , “Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project,” Journal of Genetic Counseling 22, no. 2 (2013): 164–174, at 165.

Id., at 166.

Clinical Laboratory Improvement Amendments of 1988 (CLIA), Pub. L. No. 100–578, 102 Stat. 2903 (codified as amended at 42 U.S.C § 263a (2006); Burke W. Evans B. J. Jarvik G. P. , “Return of Results: Ethical and Legal Distinctions between Research and Clinical Care,” American Journal of Medical Genetics 166C, no. 1 (2014): 105–111; Wolf S.M. , “Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations,” Journal of Law, Medicine & Ethics 36, no. 2 (2008): 219–248.

42 C.F.R. § 493.3(b)(2) (2013).

Burke Evans Jarvik , supra note 79.

Secretary's Advisory Committee on Genetics, Health and Society (SACGHS), U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services (2008), at 128, available at <http://osp.od.nih.gov/sites/default/files/SACGHS_oversight_report.pdf> (last visited November 23, 2015).

Burke Evans Jarvik , supra note 79, at 108.

Wolf , supra note 79, at n. 81, but see Evans B. J. , “The First Amendment Right to Speak about the Human Genome,” University of Pennsylvania Journal of Constitutional Law 16 (2014): 549–636, at 565 (“While it seems unlikely that a court would hold that urging a person to seek a health assessment is itself a health assessment, the sheer vagueness of CLIA's research exception does invite such speculation.”).

Wolf , supra note 19, at 371.

Evans , supra note 86, at 567–568.

42 C.F.R. § 493.1291(f) (2013).

42 C.F.R. § 493.2 (2014).

CLIA Program and HIPAA Privacy Rule: Patients' Access to Test Reports, 79 Fed. Reg. 7290 (Feb. 6, 2014) (to be codified at 42 C.F.R. Part 493 and 45 C.F.R. Part 164).

Common Rule, 45 C.F.R. § part 46

Id.; Office for Human Research Protections, Department of Health and Human Services (OHRP), Guidance on the Genetic Information Nondiscrimination Act: Implications for Investigators and Institutional Review Boards (March 24, 2009), available at <http://www.hhs.gov/ohrp/policy/gina.pdf> (last visited November 23, 2015).

Klitzman R. , “Exclusion of Genetic Information from the Medical Record: Ethical and Medical Dilemmas,” JAMA 304, no. 10 (2010): 1120–1121.

Genetic Information Nondiscrimination Act of 2008 (GINA), Pub. L. No. 110–233, 122 Stat. 881 (codified as amended in scattered sections of 26, 29, and 42 U.S.C).

26 C.F.R. § 54.9802–3T(c) (2009) (Interim Final Rules).

29 C.F.R. § 1635.8(b)(1)(i) (2014); 26 C.F.R. § 54.9802–3T(d) (2)(ii)(B).