The Challenge of Informed Consent and Return of Results in Translational Genomics: Empirical Analysis and Recommendations

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See ACMG Board of Directors, “Points to Consider for Informed Consent for Genome/Exome Sequencing,” Genetics in Medicine 15, no. 9 (2013): 748–749;.

Ayuso C. , “Informed Consent for Whole-Genome Sequencing Studies in the Clinical Setting: Proposed Recommendations on Essential Content and Process,” European Journal of Human Genetics 21, no. 10 (2013): 1054–1059;.

Caulfield T. , “Research Ethics Recommendations for Whole-Genome Research: Consensus Statement,” PLoS Biology 6, no. 3 (2008): e73;.

Henderson G. E. , “Is Informed Consent Broken?” American Journal of the Medical Sciences 342, no. 4 (2011): 267–272;.

Kronenthal C. Delaney S. K. Christman M. F. , “Broadening Research Consent in the Era of Genome-Informed Medicine,” Genetics in Medicine 14, no. 4 (2012): 432–436;.

McGuire A. L. Beskow L. M. , “Informed Consent in Genomics and Genetic Research,” Annual Review of Genomics and Human Genetics 11 (2010): 361–381;.

Ormond K. E. , “Challenges in the Clinical Application of Whole-Genome Sequencing,” The Lancet 375, no. 9727 (2010): 1749–1751;.

Presidential Commission for the Study of Bioethical Issues, Privacy and Progress in Whole Genome Sequencing, October 2012, available at <http://bioethics.gov/sites/default/files/PrivacyProgress508_1.pdf>(last visited July 30, 2014);.

Sharp R. R. , “Downsizing Genomic Medicine: Approaching the Ethical Complexity of Whole-Genome Sequencing by Starting Small,” Genetics in Medicine 13, no. 3 (2011): 191–194;.

Trinidad S. B. , “Informed Consent in Genome-Scale Research: What Do Prospective Participants Think?” AJOB Primary Research 3, no. 3 (2012): 3–11.

ACMG Board of Directors, “Points to Consider in the Clinical Application of Genomic Sequencing,” Genetics in Medicine 14, no. 8 (2012): 759–761.

Green R. C. , “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing,” Genetics in Medicine 15, no. 7 (2013): 565–574;.

American College of Medical Genetics and Genomics (ACMG), “Incidental Findings in Clinical Genomics: A Clarification,” Genetics in Medicine 15, no. 8 (2013): 664–666.

See, e.g., Burke W. , “Recommendations for Returning Genomic Incidental Findings? We Need To Talk!” Genetics in Medicine 15, no. 11 (2013): 854–859;.

McEwen J. E. Boyer J. T. Sun K. Y. , “Evolving Approaches to the Ethical Management of Genomic Data,” Trends in Genetics 29, no. 6 (2013): 375–382;.

McGuire A. L. , “Point-Counterpoint. Ethics and Genomic Incidental Findings,” Science 340, no. 6136 (2013): 1047–1048;.

Presidential Commission for the Study of Bioethical Issues, Anticipate and Communicate: Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts, December 2013, available at <http://bioethics.gov/sites/default/files/FINALAnticipateCommunicate_PCSBI_0.pdf>(last visited July 30, 2014);.

Wolf S. M. Annas G. J. Elias S. , “Point-Counterpoint. Patient Autonomy and Incidental Findings in Clinical Genomics,” Science 340, no. 6136 (2013): 1049–1050.

American College of Medical Genetics and Genomics (ACMG), ACMG Updates Recommendation on “Opt Out” for Genome Sequencing Return of Results, April 1, 2014, available at <https://www.acmg.net/docs/Release_ACMGUpdatesRecommendations_final.pdf>(last visited July 30, 2014).

See Green , supra note 4.

Allen C. Foulkes W. D. , “Qualitative Thematic Analysis of Consent Forms Used in Cancer Genome Sequencing,” BMC Medical Ethics 12, no. 1 (2011): 14.

See National Human Genome Research Institute (NHGRI), “Clinical Sequencing Exploratory Research,” available at <http://www.genome.gov/27546194>(last visited July 30, 2014).

See 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.

See Knoppers B. M. Zawati M. H. Kirby E. S. , “Sampling Populations of Humans Across the World: ELSI Issues,” Annual Review of Genomics and Human Genetics 13 (2012): 395–413.

National Human Genome Research Institute (NHGRI), “Informed Consent for Genomics Research,” available at <http://www.genome.gov/27026588>(last visited July 30, 2014).

See Allen Foulkes , supra note 8.

See Manolio , supra note 1.

See Green , supra note 4.

Id., at 567.

See ACMG, supra note 6.

See Kannry J. L. Williams M. S. , “Integration of Genomics into the Electronic Health Record: Mapping Terra Incognita,” Genetics in Medicine 15, no. 10 (2013): 757–760;.

Hazin R. , “Ethical, Legal, and Social Implications of Incorporating Genomic Information into Electronic Health Records,” Genetics in Medicine 15, no. 10 (2013): 810–816.

Paasche-Orlow M. K. , “Readability of Consent Form Templates: A Second Look,” IRB 35, no. 4 (2013): 12–19.

See NHGRI, supra note 12.