Currents in Contemporary Bioethics: The Case against Precipitous,Population-Wide,Whole-Genome Sequencing

See Bennett S. T. , “Toward the $1000 Human Genome,” Pharmacogenomics 6, no. 4 (2005): 373–382.

See Pollack A. , “Company Unveils DNA Sequencing Device Meant to Be Portable, Disposable and Cheap,” New York Times, February 18, 2012, at B2.

Gahl W. A. , “The National Institutes of Health Undiagnosed Diseases Program: Insights into Rare Diseases, Genetics in Medicine 14, no. 1 (2012): 51–59.

Cirulli E. T. Goldstein D. B. , “Uncovering the Role of Rare Variants in Common Disease through Whole-Genome Sequencing,” Nature Reviews Genetics 11, no. 6 (2010): 415–425.

Daly A. K. , “Genome-Wide Association Studies in Pharmacogenomics,” Nature Reviews Genetics 11, no. 4 (2010): 241–246.

Ross J. S. Cronin M. , “Whole Cancer Genome Sequencing by Next–Generation Methods,” American Journal of Clinical Pathology 136, no. 4 (2011): 527–539.

See Woolf S. H. Harris R. , “The Harms of Screening: New Attention to an Old Concern,” JAMA 307, no. 6 (2012): 565–566.

Mandelblatt J. S. Cronin K.A. Bailey S. , “Effects of Mammograph Screening under Different Screening Schedules: Model Estimates of Potential Benefits and Harms,” Annals of Internal Medicine 151, no. 10 (2009): 738–747.

See also Smith R. A. , “Cancer Screening in the United States, 2010: A Review of Current American Cancer Society Guidelines and Issues in Cancer Screening,” CA: A Cancer Journal for Clinicians 60, no. 2 (2010): 99–119.

Moyer V. A. , “Screening for Prostate Cancer with Prostate-Specific Antigen Testing: U.S. Preventive Services Task Force Recommendation Statement,” Annals of Internal Medicine 157, no. 2 (2012): E459.

See Baily M. A. Murray T. H. , “Ethics, Evidence, and Cost in Newborn Screening,” Hastings Center Report 38, no. 3 (2008): 23–31;

Botkin J. R. , “Newborn Screening Technologies: Proceed with Caution,” Pediatrics 117, no. 5 (2006): 1800–1805.

See also Goldenberg A. J. Sharp R. R. , “The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening,” JAMA 307, no. 5 ((2012): 461–462.

See Ormond K. E. , “Challenges in the Clinical Application of Whole-Genome Sequencing,” The Lancet 375, no. 9727 (2010): 1749–1751 (estimating whole-genome sequencing will indicate the average person has “roughly 100 genetic risks”).

Tennessen J. A. , “Evolution and Functional Impact of rare Coding Variation from Deep Sequencing of Human Exomes,” Science 337, no. 6090 (2012): 64–69.

Obuchowski N. A. , “Ten Criteria for Effective Screening: Their Application to Multislice CT Screening for Pulmonary and Colorectal Cancers,” American Journal of Roentgenology 176, no. 6 (2001): 1357–1362

cited in Burger I. M. Kass N. E. , “Screening in the Dark: Ethical Considerations of Providing Screening Tests to Individuals When Evidence Is Insufficient to Support Screening Populations,” American Journal of Bioethics 9, no. 4 ((2009): 3–14.

The Economist, “Genetics: Pulling Strands of DNA Through Tiny Holes, Called Nanopores, Could Dramatically Speed Up the Sequencing of Human Genomes,” available at <http://www.economist.com/node/18304268/print>(last visited July 5, 2012).

Roberts N. J. , “The Predictive Capacity of Personal Genome Sequencing,” Science Translational Medicine, available at <http://stm.sciencemag.org/content/early/2012/04/02/sci*-translmed.3003380.full.pdf>(last visited July 5, 2012,).

Aschard H , “Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Predictions for Complex Diseases,” American Journal of Human Genetics 90, no. 6 (2012): 962–972.

See Greely H. T. , “Ethical and Legal Issues,” in Institute of Medicine, Integrating Large-scale Genomic Information into Clinical Practice: Workshop Summary 47–51 (Washington, DC: National Academies Press 2012).

See generally Feigal D. W. Gardner S. N. McClellan M. , “Ensuring Safe and Effective Medical Devices,” New England Journal of Medicine 348, no. 3 (2003): 191–192.

Centers for Disease Control and Prevention, “Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders,” Morbidity and Mortality Weekly Report 61, no. 2 (April 6, 2012): 1–37.

Rollins G. , “The Power and Promise of Next-generation Sequencing,” Clinical Laboratory News 38, no. 4 (April 2012), available at <http://www.aacc.org/publications/cln/2012/april/Pages/Sequencing.aspx>(last visited July 5, 2012).

Stein L. D. , “The Case for Cloud Computing in Genome Informatics,” Genome Biology 11, no. 5 (2010): 207–213.

See Greely, supra note 17.

See Rothstein M. A. Siegal G. , “Health Information Technology and Physicians' Duty to Notify Patients of New Medical Developments,” Houston Journal of Health Law and Policy 12, no. 2 (2012) (in press).

See Ormond , supra note 11.

American Board of Medical Genetics, available at <http://www.abmg.org/pdf/Statistcs_allyears.pdf>(last visited April 29, 2012).

“Shortage of Physician-Geneticists in the United States 2007,” available at <http://thepersonalgenome.com/2007/12/shortage-of-geneticists-in-the-united-states/>(last visited July 5, 2012).

American Board of Genetic Counselors, “About ABGC,” available at <http://www.abgc.net/About_ABGC/Genetic-Counselors.asp>(last visited July 9, 2012).

See National Society of Genetic Counselors, NSGC Billing and Reimbursement Education, available at <http://archive.nsgc.org/publicpolicy/breducation.com>(last accessed June 4, 2012).

Smerecnik C. M. R. Mesters I. de Vries N. K. de Vries H. , “Educating the General Public about Multifactorial Genetic Disease: Applying a Theory-Based Framework to Understand Current Public Knowledge,” Genetics in Medicine 10, no. 4 (2008): 251–258.

Committee on Health Literacy, Institute of Medicine, Health Literacy: A Prescription to End Confusion (2004);

National Center for Educational Statistics, U.S. Department of Education, The Health Literacy of America's Adults: Results from the 2003 National Assessment of Adult Literacy (2006).

Lea D. H. , “Communicating Genetic and Genomic Information: Health Literacy and Numeracy Considerations,” Public Health Genomics 14, no. 4–5 (2011): 279–289.

See, e.g., Klitzman R. L. , “Misunderstandings Concerning Genetics Among Patients Confronting Genetic Disease,” Journal of Genetic Counseling 19, no. 5 (2010): 430–446

See also Lanie A. D. , “Exploring the Public Understanding of Basic Genetic Concepts,” Journal of Genetic Counseling 13, no. 4 ((2004): 305–320.

See Greely , supra note 17.

Mendes E. , “More Americans Uninsured in 2011,” GALLUP Wellbeing, available at <http://www.gallup.com/poll/152162/americans-uninsured-2011.aspx>(last visited July 5, 2012).

See Malone B. , “Screening Tests in the Age of Austerity: Who Will Define their Value?,” Clinical Laboratory News 38, no. 6 (2012) (describing efforts to reduce expenditures on laboratory tests).

Standards for Privacy of Individually Identifiable Health Information, 45 C.F.R. Parts 160, 164.

See Rothstein M. A. , “Access to Sensitive Health Information in Segmented Electronic Health Records,” Journal of Law, Medicine & Ethics 40, no. 2 (2012): 394–400.

Pub. L. No. 110–233, 122 Stat. 881, codified in scattered sections of U.S.C. titles 26, 29, and 42.

See Rothstein M. A. , “Putting the Genetic Information Nondiscrimination Act in Context,” Genetics in Medicine 10, no. 9 (2008): 655–656.

National Conference of State Legislatures, State Genetics Laws, available at <www.ncsl.org/issues-research/health/genetic-nondiscrimination-in-health-insurance-laws.aspx>(health insurance) (last visited July 5, 2012) and <www.ncsl.org/issues-research/health/genetic-employment-laws.aspx>(employment) (last visited June 10, 2012).

42 U.S.C. §§ 12101–12213.

See Rothstein M. A. Talbott M. K. , “Compelled Authorizations for Disclosure of Health Records: Magnitude and Implications,” American Journal of Bioethics 7, no. 3 (2007): 38–45.

See also Rothstein M. A. Talbott M. K. , “Compelled Disclosure of Health Information: Protecting Against the Greatest Potential Threat to Privacy,” JAMA 295, no. 24 (2006): 2882–2885.

Appelbaum S. E. , “Genetic Testing: Counseling, Laboratory, and Regulatory Issues and the EUROPAC Protocol for Ethical Research in Multicenter Studies of Inherited Pancreatic Diseases,” Medical Clinics of North America 84, no. 3 (2000): 575–588.

See also McPherson E. , “Genetic Testing in Clinical Practice,” Clinical Medicine and Research 4, no. 2 ((2006): 123–129.

See Burke W. , “Genetic Testing for Women with an Intermediate Familial History of Breast Cancer,” American Journal of Medical Genetics 90, no. 5 (2000): 361–368.

Andrews L. B. , eds., Assessing Genetic Risks: Implications for Health and Social Policy (Washington, DC: National Academy Press, 1994): At 10.

American Medical Association, Code of Medical Ethics 2010–2011 Edition § 2.138 (Chicago: American Medical Association 2010).

American Society of Human Genetics Board of Directors and American College of Medical Genetics Board of Directors, “Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents,” American Journal of Human Genetics 57, no. 5 (1995): 1233–1241.

See, e.g., Clayton E. W. , “Genetic Testing in Children: The Law's Role in Addressing Challenges Posed by New Technology,” Children's Legal Rights Journal 18, no. 1 (1998): 39–42.

See also Ross L. F. Moon M. R. , “Ethical Issues in Genetic Testing of Children,” Archives of Pediatric and Adolescent Medicine 154, no. 9 (2000): 873–879.

See also Wertz D. C. Fanos J. H. Reilly P. R. , “Genetic Testing for Children and Adolescents: Who Decides?” JAMA 272, no. 11 ((1994): 875–881.

Kokotos F. , “The Vulnerable Child Syndrome,” Pediatrics in Review 30, no. 5 (2009): 193–194.

Department of Health and Human Services, “Genomic Sequencing and Newborn Screening Disorders (U19) (August 9, 2012), available at <http://grants.nih.gov/grants/guide/rfa-files/RFA-HD-13-010.html>(last visited August 13, 2012);

see also MacArthur D. , “Routine Whole-Genome Sequencing of Babies by 2019?” available at <http://www.wired.com/wiredscience/2009/02/routine-whole-genome-sequencing-ofbabies-by-2019/>(last visited April 29, 2012).

See Goldenberg A. J. Sharp R. R. , “The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening,” JAMA 307, no. 5 (2012): 461–462.

Kitzman J. O. , “Noninvasive Whole-Genome Sequencing of a Human Fetus,” Science Translational Medicine 4, no. 137 (2012): 137ra76;

Donley G. Hull S. C. Berkman B. E. , “Prenatal Whole Genome Sequencing: Just Because We Can, Should We?” Hastings Center Report 42, no. 4 (2012).

Integrating Large-Scale Genomic Information into Clinical Practice: Workshop Summary (Washington, DC: National Academies Press 2012) (remarks of Robert Nussbaum, University of California, San Francisco): At 26.

Brunham L. R. Hayden M. R. , “Whole-Genome Sequencing: The New Standard of Care?” Science 336 (2012): 1112–1113.