Hostname: page-component-848d4c4894-m9kch Total loading time: 0 Render date: 2024-05-04T11:08:57.927Z Has data issue: false hasContentIssue false
  • English
  • Français

Currents in Contemporary Bioethics

The Case against Precipitous, Population-Wide, Whole-Genome Sequencing

Published online by Cambridge University Press:  01 January 2021

Mark A. Rothstein
Get access Rights & Permissions [Opens in a new window]

Extract

From the earliest days of the Human Genome Project, the holy grail of genomics was the ability to perform whole-genome sequencing quickly, accurately, and relatively inexpensively so that the benefits of genomics would be widely available in clinical settings. Although the mythical $1,000 genome sequence seemed elusive for many years, next-generation sequencing technologies and other recent advances clearly indicate that inexpensive whole-genome sequencing is at hand.

Whole-genome sequencing has demonstrable value in elucidating the genetic etiology of rare disorders, in identifying atypical variants in common diseases, in determining pharmacogenomically appropriate drugs and dosages, in performing tumor genome sequencing, and in aiding other clinical applications for the diagnosis and treatment of individuals who are symptomatic or whose family health history places them at substantial risk. Undoubtedly, the clinical applications of wholegenome sequencing will increase in the future.

Type
JLME Column
Information
Journal of Law, Medicine & Ethics , Volume 40 , Issue 3 , Fall 2012 , pp. 682 - 689
Copyright
Copyright © American Society of Law, Medicine and Ethics 2012

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

See Bennett, S. T. et al. , “Toward the $1000 Human Genome,” Pharmacogenomics 6, no. 4 (2005): 373–382.CrossRefGoogle Scholar
See Pollack, A., “Company Unveils DNA Sequencing Device Meant to Be Portable, Disposable and Cheap,” New York Times, February 18, 2012, at B2.Google Scholar
Gahl, W. A. et al. , “The National Institutes of Health Undiagnosed Diseases Program: Insights into Rare Diseases, Genetics in Medicine 14, no. 1 (2012): 51–59.CrossRefGoogle Scholar
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.CrossRefGoogle Scholar
Daly, A. K., “Genome-Wide Association Studies in Pharmacogenomics,” Nature Reviews Genetics 11, no. 4 (2010): 241–246.CrossRefGoogle Scholar
Ross, J. S. Cronin, M., “Whole Cancer Genome Sequencing by Next–Generation Methods,” American Journal of Clinical Pathology 136, no. 4 (2011): 527–539.CrossRefGoogle Scholar
See Woolf, S. H. Harris, R., “The Harms of Screening: New Attention to an Old Concern,” JAMA 307, no. 6 (2012): 565–566.CrossRefGoogle Scholar
Mandelblatt, J. S. Cronin, K.A. Bailey, S. et al. , “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. et al. , “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.CrossRefGoogle Scholar
Moyer, V. A. et al. , “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.Google Scholar
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. et al. , “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.CrossRefGoogle Scholar
See Ormond, K. E. et al. , “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”).CrossRefGoogle Scholar
Tennessen, J. A. et al. , “Evolution and Functional Impact of rare Coding Variation from Deep Sequencing of Human Exomes,” Science 337, no. 6090 (2012): 64–69.CrossRefGoogle Scholar
Obuchowski, N. A. et al. , “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.CrossRefGoogle Scholar
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).(last+visited+July+5,+2012).>Google Scholar
Roberts, N. J. et al. , “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,).(last+visited+July+5,+2012,).>Google Scholar
Aschard, H et al. , “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.CrossRefGoogle Scholar
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).Google Scholar
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.CrossRefGoogle Scholar
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.Google Scholar
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).Google Scholar
Stein, L. D., “The Case for Cloud Computing in Genome Informatics,” Genome Biology 11, no. 5 (2010): 207–213.CrossRefGoogle Scholar
See Greely, supra note 17.Google Scholar
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).Google Scholar
See Ormond, et al. , supra note 11.Google Scholar
American Board of Medical Genetics, available at <http://www.abmg.org/pdf/Statistcs_allyears.pdf>(last visited April 29, 2012).(last+visited+April+29,+2012).>Google Scholar
“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).(last+visited+July+5,+2012).>Google Scholar
American Board of Genetic Counselors, “About ABGC,” available at <http://www.abgc.net/About_ABGC/Genetic-Counselors.asp>(last visited July 9, 2012).(last+visited+July+9,+2012).>Google Scholar
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).(last+accessed+June+4,+2012).>Google Scholar
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.CrossRefGoogle Scholar
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).Google Scholar
Lea, D. H. et al. , “Communicating Genetic and Genomic Information: Health Literacy and Numeracy Considerations,” Public Health Genomics 14, no. 4–5 (2011): 279–289.CrossRefGoogle Scholar
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. et al. , “Exploring the Public Understanding of Basic Genetic Concepts,” Journal of Genetic Counseling 13, no. 4 (2004): 305–320.CrossRefGoogle Scholar
See Greely, , supra note 17.Google Scholar
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).(last+visited+July+5,+2012).>Google Scholar
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).Google Scholar
Standards for Privacy of Individually Identifiable Health Information, 45 C.F.R. Parts 160, 164.Google Scholar
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.CrossRefGoogle Scholar
Pub. L. No. 110–233, 122 Stat. 881, codified in scattered sections of U.S.C. titles 26, 29, and 42.Google Scholar
See Rothstein, M. A., “Putting the Genetic Information Nondiscrimination Act in Context,” Genetics in Medicine 10, no. 9 (2008): 655–656.Google Scholar
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).(health+insurance)+(last+visited+July+5,+2012)+and+(employment)+(last+visited+June+10,+2012).>Google Scholar
42 U.S.C. §§ 12101–12213.Google Scholar
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.CrossRefGoogle Scholar
Appelbaum, S. E. et al. , “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.Google Scholar
See Burke, W. et al. , “Genetic Testing for Women with an Intermediate Familial History of Breast Cancer,” American Journal of Medical Genetics 90, no. 5 (2000): 361–368.3.0.CO;2-8>CrossRefGoogle Scholar
Andrews, L. B. et al. , eds., Assessing Genetic Risks: Implications for Health and Social Policy (Washington, DC: National Academy Press, 1994): At 10.Google Scholar
American Medical Association, Code of Medical Ethics 2010–2011 Edition § 2.138 (Chicago: American Medical Association 2010).Google Scholar
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.Google Scholar
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.Google Scholar
Kokotos, F., “The Vulnerable Child Syndrome,” Pediatrics in Review 30, no. 5 (2009): 193–194.CrossRefGoogle Scholar
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).(last+visited+August+13,+2012);+see+also+MacArthur,+D.,+“Routine+Whole-Genome+Sequencing+of+Babies+by+2019?”+available+at+(last+visited+April+29,+2012).>Google Scholar
See Goldenberg, A. J. Sharp, R. R., “The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening,” JAMA 307, no. 5 (2012): 461–462.CrossRefGoogle Scholar
Kitzman, J. O. et al. , “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).CrossRefGoogle Scholar
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.Google Scholar
Brunham, L. R. Hayden, M. R., “Whole-Genome Sequencing: The New Standard of Care?” Science 336 (2012): 1112–1113.CrossRefGoogle Scholar