Skip to main content Accessibility help
×
Home
Hostname: page-component-55b6f6c457-cn8nj Total loading time: 0.681 Render date: 2021-09-23T15:42:57.542Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": true, "newCiteModal": false, "newCitedByModal": true, "newEcommerce": true, "newUsageEvents": true }

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

Published online by Cambridge University Press:  01 January 2021

Abstract

Returning genomic research results to family members raises complex questions. Genomic research on life-limiting conditions such as cancer, and research involving storage and reanalysis of data and specimens long into the future, makes these questions pressing. This author group, funded by an NIH grant, published consensus recommendations presenting a framework. This follow-up paper offers concrete guidance and tools for implementation. The group collected and analyzed relevant documents and guidance, including tools from the Clinical Sequencing Exploratory Research (CSER) Consortium. The authors then negotiated a consensus toolkit of processes and documents. That toolkit offers sample consent and notification documents plus decision flow-charts to address return of results to family of living and deceased participants, in adult and pediatric research. Core concerns are eliciting participant preferences on sharing results with family and on choice of a representative to make decisions about sharing after participant death.

Type
Symposium Articles
Copyright
Copyright © American Society of Law, Medicine and Ethics 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

*

Note: Authors are listed alphabetically after the three Principal Investigators and Research Assistant.

References

Wolf, S. M. et al., “Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations,” Journal of Law, Medicine & Ethics 43, no. 3 (2015): 440463.Google Scholar
Wolf, S. M., Koenig, B. A., and Petersen, G., eds., “Return of Genomic Research Results to a Participant's Family, Including After Death,” Journal of Law, Medicine & Ethics 43, no. 3 (2015): 437593.Google Scholar
See Breitkopf, C. R. et al., “Preferences Regarding Return of Genomic Results to Relatives of Research Participants, Including After Participant Death: Empirical Results from a Cancer Biobank,” Journal of Law, Medicine & Ethics 43, no. 3 (2015): 464475; C. R. Breitkopf et al., “Attitudes Toward Return of Genetic Research Results to Relatives, Including after Death: Comparison of Cancer Probands, Blood Relatives, and Spouse/Partners,” Journal of Empirical Research on Human Research Ethics (in press).Google Scholar
On the emerging literature concerning return of results to relatives, including when the proband is deceased, see Goodman, J. L. et al., “Discordance in Selected Designee for Return of Genomic Findings in the Event of Participant Death and Estate Executor,” Molecular Genetics & Genomic Medicine 5, no. 2 (2017): 172176; L. A. Siminoff et al., “Family Decision Maker Perspectives on the Return of Genetic Results in Biobanking Research,” Genetics in Medicine 18, no. 1 (2016): 82-88; L. M. Amendola et al., “Patients’ Choices for Return of Exome Sequencing Results in the Event of their Death,” Journal of Law, Medicine & Ethics 43, no. 3 (2015): 476-485; Wolf et al., supra note 1; K. D. Graves et al., “Communication of Genetic Test Results to Family and Health Care Providers Following Disclosure of Research Results,” Genetics in Medicine 16, no. 4 (2014): 294-301; L. C. Milner, E. Y. Liu, and N. A. Garrison, “Relationships Matter: Ethical Considerations for Returning Results to Family Members of Deceased Subjects,” American Journal of Bioethics 13, no. 10 (2013): 66-67; H. A. Taylor and B. S. Wilfond, “The Ethics of Contacting Family Members of a Subject in a Genetic Research Study to Return Results for an Autosomal Dominant Syndrome,” American Journal of Bioethics 13, no. 10 (2013): 64-65; B. Chan et al., “Genomic Inheritances: Disclosing Individual Research Results from Whole-Exome Sequencing to Deceased Participants' Relatives,” American Journal of Bioethics 12, no. 10 (2012): 1-8; M. A. Rothstein, “Disclosing Decedents' Research Results to Relatives Violates the HIPAA Privacy Rule,” American Journal of Bioethics 12, no. 10 (2012): 16-17; A. L. Bredenoord and J. J. M. van Delden, “Disclosing Individual Genetic Research Results to Deceased Participants' Relatives by Means of a Qualified Disclosure Policy,” American Journal of Bioethics 12, no. 10 (2012): 12-14; A. M. Tassé, “The Return of Results of Deceased Research Participants,” Journal of Law, Medicine & Ethics 39, no. 4 (2011): 621-630; E. Ormondroyd et al., “Communicating Genetics Research Results to Families: Problems Arising When the Patient Participant Is Deceased,” Psycho-Oncology 17, no. 8 (2008): 804-811. See also National Human Genome Research Institute (NHGRI), Informed Consent for Genomics Research, Special Considerations for Genome Research, Considerations for Families, at <https://www.genome.gov/27559024/informed-consent-special-considerations-for-genome-research/> (last visited October 21, 2017).Google Scholar
See National Human Genome Research Institute (NHGRI), Informed Consent for Genomics Research, Special Considerations for Genome Research, Studies Involving Children, at <https://www.genome.gov/27559024/informed-consent-special-considerations-for-genome-research/> (last visited October 21, 2017); Botkin, J. R. et al., “Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents,” American Journal of Human Genetics 97, no. 1 (2015): 621; S. Scollon et al., “Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject,” Journal of Law, Medicine & Ethics 43, no. 3 (2015): 529-537; E. W. Clayton et al., “Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children,” American Journal of Bioethics 14, no. 3 (2014): 3-9; L. F. Ross et al., “Technical Report: Ethical and Policy Issues in Genetic Testing and Screening of Children,” Genetics in Medicine 15, no. 3 (2013): 234-245; R. C. Green et al., “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genomic Sequencing,” Genetics in Medicine 15, no. 7 (2013): 565-574.CrossRefGoogle Scholar
See Weitzel, K. W. et al., “The IGNITE Network: A Model for Genomic Medicine Implementation and Research,” BMC Medical Genomics 9, no. 1 (2016): DOI:10.1186/s12920-015-0162-5; M. S. Williams, “Perspectives on What Is Needed to Implement Genomic Medicine,” Molecular Genetics & Genomic Medicine 3, no. 3 (2015): 155-159.Google Scholar
Wolf et al., supra note 1, at 448 (emphasis omitted).Google Scholar
As we stated in our prior paper, “In different contexts, the representative may vary. A Legally Authorized Representative (LAR), Executor, Next-of-Kin, Spouse or Partner, or Parent/Guardian may qualify, depending on applicable federal and state law. HIPAA uses the term ‘personal representative’ to refer to the authorized representative, including after the participant's death.” Wolf et al., supra note 1, at 460. For further discussion, see id., at 441, 443-44, 449, 460, 461 n. 15.Google Scholar
Id., at 448 (emphasis omitted).Google Scholar
See note 3, supra.Google Scholar
Wolf et al., supra note 1.Google Scholar
This project participated in the CSER1 Consortium, whose website was at <https://cser-consortium.org/>. This is now the website for the follow-on CSER2 Consortium, but includes CSER1-generated resources. For a description of the work of the CSER1 Consortium, see Green, R. C. et al., “Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine,” American Journal of Human Genetics 98, no. 6 (2016): 10511066. For a description of CSER2, see National Human Genome Research Institute (NHGRI), Clinical Sequencing Evidence-Generating Research (CSER2), at <https://www.genome.gov/27546194/clinical-sequencing-exploratory-research-cser/> (last visited October 27, 2017).Google Scholar
Consent models in the literature include those posted by the eMERGE Network, at <https://emerge.mc.vanderbilt.edu/consentforms/> (last visited November 9, 2017).+(last+visited+November+9,+2017).>Google Scholar
These forms and processes may also need to be customized depending on applicable federal and state law. For example, some institutions in which research is conducted may be covered by HIPAA, while others are not. In addition, state law may address privacy and disclosure, as well as who may serve as the research participant's Representative to make decisions about sharing their genomic results when the participant has lost decisional capacity or died. See Wolf et al., supra note 1. The potential legal issues suggest that researchers and their institutions should obtain legal consultation as needed.Google Scholar
See, e.g., Jarvik, G. P. et al., “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): 818826.CrossRefGoogle Scholar
Amendola et al., supra note 4.Google Scholar
The MRCT Center of Harvard and Brigham and Women's Hospital, MRCT Return of Results Toolkit, Version 2.0, Oct. 2, 2015, available at <http://mrctcenter.org/wp-content/uploads/2015/11/2015-10-02-MRCT-ROR-Toolkit-Version-2.0-2.pdf> (last visited October 21, 2017).+(last+visited+October+21,+2017).>Google Scholar
Health Insurance Portability and Accountability Act of 1996, Pub. L. No. 104-191, 110 Stat. 1936 (1996), codified at 42 U.S.C. § 300gg and 29 U.S.C. §§ 1181 et seq. and 42 U.S.C. §§ 1320d et seq. See Wolf et al., supra note 1, at n. 17 on HIPAA allowing a family member's physician to obtain an individual's protected health information when relevant to the family member's treatment.Google Scholar
See Wolf et al., supra note 1.Google Scholar
See, e.g., Burke, W., Evans, B. J., and Jarvik, G. P., “Return of Results: Ethical and Legal Distinctions between Research and Clinical Care,” American Journal of Medical Genetics, Part C, Seminars in Medical Genetics 166, no. 1 (2014): 105111; N. P. Arango et al., “A Feasibility Study of Returning Clinically Actionable Somatic Genomic Alterations Identified in a Research Laboratory,” Oncotarget 8, no. 26 (2017): 41806-41814.Google Scholar
Jarvik et al., supra note 15.Google Scholar
See, e.g., National Institutes of Health, Research Involving Individuals with Questionable Capacity to Consent: Points to Consider, at <http://grants.nih.gov/grants/policy/question-ablecapacity.htm> (last visited October 21, 2017); C. Grady, “Enduring and Emerging Challenges of Informed Consent,” New England Journal of Medicine 372, no. 9 (2015): 855-862.+(last+visited+October+21,+2017);+C.+Grady,+“Enduring+and+Emerging+Challenges+of+Informed+Consent,”+New+England+Journal+of+Medicine+372,+no.+9+(2015):+855-862.>Google Scholar
Wolf et al., supra note 1. See also note 8, supra.Google Scholar
Id., at 451 and n. 69.Google Scholar
Id., at 450.Google Scholar
Sabatello, M. and Appelbaum, P. S., “Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings,” Journal of Law, Medicine & Ethics 44, no. 2 (2016): 292304; K. B. Brothers et al., “Practical Guidance on Informed Consent for Pediatric Participants in a Bioreposi-tory,” Mayo Clinic Proceedings 89, no. 11 (2014): 1471-1480; I. A. Holm et al., “Guidelines for Return of Research Results from Pediatric Genomic Studies: Deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board,” Genetics in Medicine 16, no. 7 (2014): 547-552.Google Scholar
U.S. Department of Health and Human Services (DHHS), Protection of Human Subjects, Requirements for Permission by Parents or Guardians and for Assent by Children, 45 C.F.R. § 46.408 (2017). This paper generally refers to permission from both parents (or a guardian), as DHHS states that, “In general, permission should be obtained from both parents before a child is enrolled in research. However, the Institutional Review Board (IRB) may find that the permission of one parent is sufficient for research to be conducted under [Common Rule sections] 46.404 or 46.405. When research is to be conducted under 46.406 and 46.407 permission must be obtained from both parents, unless one parent is deceased, unknown, incompetent, or not reasonably available, or when only one parent has legal responsibility for the care and custody of the child.” U.S. Department of Health and Human Services (DHHS), Office for Human Research Protections (OHRP), Research with Children FAQs, at <https://www.hhs.gov/ohrp/regulations-and-policy/guidance/faq/children-research/index.html> (last visited October 25, 2017).+(last+visited+October+25,+2017).>Google Scholar
U.S. Department of Health and Human Services (DHHS), Protection of Human Subjects, Requirements for Permission by Parents or Guardians and for Assent by Children, supra note 28.Google Scholar
See note 5, supra; Hufnagel, S. B. et al., “Adolescent Preferences Regarding Disclosure of Incidental Findings in Genomic Sequencing that Are Not Medically Actionable in Childhood,” American Journal of Medical Genetics 170, no. 8 (2016): 20832088; B. S. Wilfond, C. V. Fernandez, and R. C. Green, “Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the ‘Benefit to Families,’” Journal of Law, Medicine & Ethics 43, no. 3 (2015): 552-558.CrossRefGoogle Scholar
See note 5, supra.Google Scholar
Wolf et al., supra note 1, at 451-52, 456, 459.Google Scholar
Id., at 456.Google Scholar
Id., at 456, 459.Google Scholar
Wolf et al., supra note 1.Google Scholar
See note 3, supra.Google Scholar
8
Cited by

Send article to Kindle

To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants
Available formats
×

Send article to Dropbox

To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants
Available formats
×

Send article to Google Drive

To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants
Available formats
×
×

Reply to: Submit a response

Please enter your response.

Your details

Please enter a valid email address.

Conflicting interests

Do you have any conflicting interests? *