Hostname: page-component-cd9895bd7-q99xh Total loading time: 0 Render date: 2024-12-25T08:06:54.634Z Has data issue: false hasContentIssue false
  • English
  • Français

Understanding Incidental Findings in the Context of Genetics and Genomics

Published online by Cambridge University Press:  01 January 2021

Mildred K. Cho
Get access Rights & Permissions [Opens in a new window]

Extract

Human genetic and genomic research can yield information that may be of clinical relevance to the individuals who participate as subjects of the research. However, no consensus exists as yet on the responsibilities of researchers to disclose individual research results to participants in human subjects research. “Genetic and genomic research” on humans varies widely, including association studies, examination of allele frequencies, and studies of natural selection, human migration, and genetic variation. For the purposes of this article, it is defined broadly to include analysis of DNA collected from humans that has implications for human health (even if the purpose of the study is not medical). This paper addresses both research results of individual research participants that may be an intended product of the research, as well as unanticipated, “incidental” findings.

Type
Symposium
Information
Journal of Law, Medicine & Ethics , Volume 36 , Issue 2 , Summer 2008 , pp. 280 - 285
Copyright
Copyright © American Society of Law, Medicine and Ethics 2008

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.)

References

Clayton, E. W. and Ross, L., “Implications of Disclosing Individual Results of Clinical Research,” JAMA 295, no. 1 (2006): 37; Partridge, A. and Winer, E., “Informing Clinical Trial Participants about Study Results,” JAMA 288, no. 3 (2002): 363–365; Shalowitz, D. I. and Miller, F. G., “Disclosing Individual Results of Clinical Research: Implications of Respect for Participants,” JAMA 294, no. 6 (2005): 737–784.Google Scholar
Illes, J. et al, “Incidental Findings in Brain Imaging Research,” Science 311, no. 5762 (2006): 783–784.CrossRefGoogle Scholar
See Clayton, and Ross, , supra note 1; Renegar, G. et al, “Returning Genetic Research Results to Individual: Points-to-Consider,” Bioethics 20, no. 1 (2006): 24–36.Google Scholar
Check, E., “James Watson's Genome Sequenced: Discoverer of the Double Helix Blazes Trail for Personal Genomics,” Nature (June 1, 2007), available at <http://www.nature.com/news/2007/070528/full/news070528–10.html> (last visited February 7, 2008). (last visited February 7, 2008).' href=https://scholar.google.com/scholar?q=Check,+E.,+“James+Watson's+Genome+Sequenced:+Discoverer+of+the+Double+Helix+Blazes+Trail+for+Personal+Genomics,”+Nature+(June+1,+2007),+available+at++(last+visited+February+7,+2008).>Google Scholar
Levy, S. et al, “The Diploid Genome Sequence of an Individual Human,” PLoS Biology 5, no. 10 (2007): e254.CrossRefGoogle Scholar
Shendure, J. et al, “Advanced Sequencing Technologies: Methods and Goals,” Nature Reviews Genetics 5, no. 5 (2004): 335–344.CrossRefGoogle Scholar
See Levy, et al, supra note 5.Google Scholar
Redon, R. et al, “Global Variation in Copy Number in the Human Genome,” Nature 444, no. 7118 (2006): 444–454.CrossRefGoogle Scholar
Wong, K. et al, “A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome,” American Journal of Human Genetics 80, no. 1 (2007): 91–104.CrossRefGoogle Scholar
McPherson, R. et al, “A Common Allele on Chromosome 9 Associated with Coronary Heart Disease,” Science 316, no. 5830 (2007): 1488–1491; Helgadottir, A. et al, “A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction,” Science 316, no. 5830 (2007): 1491–1493.CrossRefGoogle Scholar
McGuire, A. L. et al, “The Future of Personal Genomics,” Science 317, no. 5845 (2007): 1687.CrossRefGoogle Scholar
See Shalowitz, and Miller, , supra note 1; Illes, J. et al, “Discovery and Disclosure of Incidental Findings in Neuroimaging Research,” Journal of Magnetic Resonance Imaging 20, (2004): 743–747; Wendler, D. and Emanuel, E., “The Debate Over Research on Stored Biological Samples: What Do Sources Think?” Archives of Internal Medicine 162, no. 13 (2002): 1457–1462.Google Scholar
Id. (Shalowitz and Miller).Google Scholar
See Renegar, et al, supra note 3; Ravitsky, V. and Wilfond, B., “Disclosing Individual Genetic Results to Research Participants,” American Journal of Bioethics 6, no. 6 (2006): 8–17.Google Scholar
Stanford Center for Biomedical Ethics, “Reporting Results,” available at <http://cirge.standford.edu/library/reporting_results.html> (last visited March 24, 2008).+(last+visited+March+24,+2008).>Google Scholar
Id. (Ravitzky and Wilfond); National Bioethics Advisory Commission, Research Involving Human Biological Materials: Ethical Issues and Policy Guidance, Rockville, MD, 1999; National Heart Lung and Blood Institute, Working Group on Reporting Genetic Results in Research Studies: Meeting Summary, Bethesda, MD, 2004, available at <http://www.nhlbi.nih.gov/meetings/workshops/gene-results.htm> (last visited February 7, 2008).+(last+visited+February+7,+2008).>Google Scholar
ACMG Laboratory Practice Committee Working Group, “ACMG Recommendations for Standards for Interpretation of Sequence Variations,” Genetics in Medicine 2, no. 5 (2000): 302–303.CrossRefGoogle Scholar
See National Bioethics Advisory Commission, supra note 15.Google Scholar
Centers for Medicare and Medicaid Services, “Clinical Laboratory Improvement Amendments,” available at <http://www.cms.hhs.gov/CLIA/> (last visited February 7, 2008).+(last+visited+February+7,+2008).>Google Scholar
See Ravitzky, and Wilfond, , supra note 14.Google Scholar
See Illes, et al, supra note 2.Google Scholar
Terry, S. and Boyd, C., “Researching the Biology of PXE: Partnering in the Process,” American Journal of Medical Genetics 106, no. 3 (2001): 177–184; Terry, S. et al, “Advocacy Groups as Research Organizations: The PXE International Example,” Nature Reviews Genetics 8, no. 2 (2007): 157–164.CrossRefGoogle Scholar
Clayton, E., “Informed Consent and Genetic Research,” in Rothstein, M., ed., Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era (New Haven, CT: Yale University Press, 1997): 126–136.Google Scholar
Office for Human Research Protections, Department of Health and Human Services, Guidance on Research Involving Coded Private Information or Biological Specimens, Rockville, MD, 2004, available at <www.hhs.gov/ohrp/humansubjects/guidance/cdebiol.pdf> (last visited February 7, 2008).+(last+visited+February+7,+2008).>Google Scholar
See Ravitsky, and Wilford, , supra note 14.Google Scholar
McGuire, A. L. et al, “Research Ethics and the Challenge of Whole Genome Sequencing,” Nature Reviews Genetics 9, no. 2 (2007): 152–156.CrossRefGoogle Scholar
See Clayton, and Ross, , supra note 1.Google Scholar
Belsky, L. and Richardson, H., “Medical Researchers’ Ancillary Clinical Care Responsibilities,” BMJ 328, no. 7454 (2004): 1494–1496.CrossRefGoogle Scholar
Tabor, H. and Cho, M., “Ethical Implications of Array CGH in Complex Phenotypes: Points to Consider in Research,” Genetics in Medicine 9, no. 9 (2007): 626–631; Magnus, D. and Cho, M., “Issues in Oocyte Donation for Stem Cell Research,” Science 308, no. 5729 (2006): 1747–1748.CrossRefGoogle Scholar