Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Science and Society
  • Published:

Disability and genetics in the era of genomic medicine

Abstract

Genomic medicine offers a growing number of methods to diagnose, cure or prevent disability. Although many disabled people welcome these advances, others have reservations about the impact of genetic knowledge on disabled people's lives, arguing that genetic science might exacerbate the deep ambivalence that society as a whole has towards physical difference and anomaly. It is also possible, however, that being able to specify the genetic bases of disability, and distinguish them from other causative factors, will contribute to a fuller understanding of disability and a better response to disabled people.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

References

  1. Knoppers, B. M. & Chadwick, R. Human genetic research: emerging trends in ethics. Nature Rev. Genet. 6, 75–79 (2005).

    Article  CAS  Google Scholar 

  2. Kirschner, K. L., Ormond, K. E. & Gill, C. J. The impact of genetic technologies on perceptions of disability. Qual. Manag. Health Care 8, 19–26 (2000).

    Article  CAS  Google Scholar 

  3. International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851–861 (2007).

  4. Maresso, K. & Broeckel, U. Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans. Adv. Genet. 60, 107–139 (2008).

    Article  CAS  Google Scholar 

  5. Carmichael, B. The Human Genome Project — threat or promise? J. Intellect. Disabil. Res. 47, 505–508 (2003).

    Article  CAS  Google Scholar 

  6. Fleischer, D. Z. & Zames, F. The Disability Rights Movement: From Charity to Confrontation. (Temple Univ. Press, Philadelphia, 2000).

    Google Scholar 

  7. Campbell, J. & Oliver, M. Disability Politics: Understanding our Past, Changing our Future. (Routledge, London, 1996).

    Google Scholar 

  8. O'Connor, T. & Crystal, R. G. Genetic medicines: treatment strategies for hereditary disorders. Nature Rev. Genet. 7, 261–276 (2006).

    Article  CAS  Google Scholar 

  9. Locock, L. & Kai, J. Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era. Br. J. Gen. Pract. 58, 161–168 (2008).

    Article  Google Scholar 

  10. Cuckle, H. Extending antenatal screening in the UK to include common monogenic disorders. Community Genet. 4, 84–86 (2001).

    Article  Google Scholar 

  11. Shahine, L. K. & Caughey, A. B. Preimplantation genetic diagnosis: the earliest form of prenatal diagnosis. Gynecol. Obstet. Invest. 60, 39–46 (2005).

    Article  Google Scholar 

  12. Darilek, S. et al. Pre- and postnatal genetic testing by array-competitive genomic hybridization: genetic counseling perspectives. Genet. Med. 10, 13–18 (2008).

    Article  CAS  Google Scholar 

  13. Malpas, P. J. Predictive genetic testing of children for adult-onset diseases and psychological harm. J. Med. Ethics 34, 275–278 (2008).

    Article  CAS  Google Scholar 

  14. Sparbel, K. J. et al. Experiences of teens living in the shadow of Huntington disease. J. Genet. Couns. 17, 327–35 (2008).

    Article  Google Scholar 

  15. Klitzman, R. et al. Decision-making about reproductive choices among individuals at-risk for Huntington's disease. J. Genet. Couns. 16, 357–362 (2007).

    Article  Google Scholar 

  16. Decruyenaere, M. et al. The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. Eur. J. Hum. Genet. 15, 453–462 (2007).

    Article  Google Scholar 

  17. Coutelle, C. & Rodeck, C. On the scientific and ethical issues of fetal somatic gene therapy. Gene Ther. 9, 670–673 (2002).

    Article  CAS  Google Scholar 

  18. Coutelle, C. et al. The hopes and fears of in utero gene therapy for genetic disease — a review. Placenta 24 (Suppl B), S114–S121 (2003).

    Article  Google Scholar 

  19. Wertz, D. C. Ethical, social and legal issues in pharmacogenomics. Pharmacogenomics J. 3, 194–196 (2003).

    Article  CAS  Google Scholar 

  20. Grant, S. F. & Hakonarson, H. Recent development in pharmacogenomics: from candidate genes to genome-wide association studies. Expert Rev. Mol. Diagn. 7, 371–393 (2007).

    Article  CAS  Google Scholar 

  21. European Alliance of Patient and Parent Organizations for Genetic Services and Innovation in Medicine. Getting involved in research: a guide for individuals, families and the groups that support them. Genetic Interest Group [online]

  22. Shakespeare, T. Back to the future? New genetics and disabled people. Critical Social Policy 44, 22–35 (1995).

    Article  Google Scholar 

  23. Scully, J. L., Rippberger, C. & Rehmann-Sutter, C. Non-professionals' evaluations of gene therapy ethics. Soc. Sci. Med. 58, 1415–1425 (2004).

    Article  Google Scholar 

  24. Albert, B. The new genetics and disability rights. Presentation to EU conference, 'Human genetic testing, what implications?' Brussels, 6 May 2004. Disabled Peoples International [online], (2004).

    Google Scholar 

  25. Parens, E. & Asch, A. (eds) Prenatal Testing and Disability Rights (Georgetown Univ. Press, Washington DC, 2000).

    Google Scholar 

  26. Chipman, P. The moral implications of prenatal genetic testing. Penn. Bioeth. J. 2, 13–16 (2006).

    PubMed  Google Scholar 

  27. Mahowald, M. B. Prenatal testing for selection against disabilities. Camb. Q. Healthc. Ethics 16, 457–462 (2007).

    Article  Google Scholar 

  28. Vehmas, S. Live and let die? Disability in bioethics. New Rev. Bioeth. 1, 145–157 (2003).

    Article  Google Scholar 

  29. Shuster, E. Microarray genetic screening: a prenatal roadblock for life? Lancet 369, 526–529 (2007).

    Article  Google Scholar 

  30. Silvers, A. Predictive genetic testing: congruence of disability insurers' interest with the public interest. J. Law Med. Ethics 35 (2 Suppl), 52–58 (2007).

    Article  Google Scholar 

  31. Miller, P. S. Genetic testing and the future of disability insurance: thinking about discrimination in the genetic age. J. Law Med. Ethics 35 (2 Suppl), 47–51 (2007).

    Article  Google Scholar 

  32. Bombard, Y. et al. Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease. Eur. J. Hum. Genet. 16, 279–289 (2008).

    Article  Google Scholar 

  33. Tulloch, G. Avoiding the slippery slope in ethics and bioethics: 'ought' entails 'can' and vice versa. Nurs. Inq. 3, 225–230 (1996).

    Article  CAS  Google Scholar 

  34. Snyder, S. L & Mitchell, D. T. Out of the ashes of eugenics: diagnostic regimes in the United States and the making of a disability minority. Patterns of Prejudice 36, 79–103 (2002).

    Article  Google Scholar 

  35. Kerr, A. & Shakespeare, T. Genetic Politics: From Eugenics to Genome. (New Clarion Press, Cheltenham, 2002).

    Google Scholar 

  36. Gallagher, H. By Trust Betrayed: Patients, Physicians and the Licence to Kill in the Third Reich. (Vandermere, New York, 1995).

    Google Scholar 

  37. Ryan, D. T. & Schuchterman, J. S. (eds) Deaf People in Hitler's Europe. (Gallaudet Univ. Press, Washington DC, 2002).

    Google Scholar 

  38. Lifton, R. J. The Nazi Doctors: Medical Killing and the Psychology of Genocide. (Macmillan, London, 1986).

    Google Scholar 

  39. Hampton, S. Family eugenics. Disabil. Soc. 20, 553–561 (2005).

    Article  Google Scholar 

  40. Caplan, A, McGee, G. & Magnus, D. What is immoral about eugenics? BMJ 319, 1284–1285 (1999).

    Article  CAS  Google Scholar 

  41. Prusak, B. G. Rethinking 'liberal eugenics': reflections and questions on Habermas on bioethics. Hastings Center Rep. 35, 31–42 (2005).

    Google Scholar 

  42. Miceli, M. G. & Steele, J. K. Masking eugenics as science: a critical disability studies perspective of new reproductive technologies. J. Dev. Dis. 13, 85–88 (2007).

    Google Scholar 

  43. Stempsey, W. E. The geneticization of diagnostics. Med. Health Care Philos. 9, 193–200 (2006).

    Article  Google Scholar 

  44. ten Have, H. A. Genetics and culture: the geneticization thesis. Med. Health Care Philos. 4, 295–304 (2001).

    Article  CAS  Google Scholar 

  45. Oliver, M. Understanding Disability: From Theory to Practice (Macmillan, Basingstoke, 1996).

    Book  Google Scholar 

  46. The Union of the Physically Impaired Against Segregation and The Disability Alliance. Fundamental principles of disability. University of Leeds Centre for Disability Studies [online], (1976).

  47. Thomas, C. Female Forms: Experiencing and Understanding Disability (Open Univ. Press, Buckingham, 1999).

    Google Scholar 

  48. Wendell, S. The Rejected Body: Feminist Philosophical Reflections on Disability (Routledge, New York, 1996).

    Google Scholar 

  49. Brunger, J. W. et al. Parental attitudes toward genetic testing for pediatric deafness. Am. J. Hum. Genet. 67, 1621–1625 (2000).

    Article  CAS  Google Scholar 

  50. Middleton, A., Hewison, J. & Mueller, R. F. Attitudes of deaf adults toward genetic testing for hereditary deafness. Am. J. Hum. Genet. 63, 1175–1180 (1998).

    Article  CAS  Google Scholar 

  51. Burton, S. K. et al. A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness. Genet. Med. 8, 779–783 (2006).

    Article  Google Scholar 

  52. Scully, J. L. Disability Bioethics: Moral Bodies, Moral Difference (Rowman & Littlefield, Lanham, Maryland, 2008).

    Google Scholar 

  53. Gollust, S. E., Thompson, R. E., Gooding, H. C. & Biesecker, B. B. Living with achondroplasia: attitudes toward population screening and correlation with quality of life. Prenat. Diagn. 23, 1003–1008 (2003).

    Article  Google Scholar 

  54. Gooding, H. C. et al. Issues surrounding prenatal genetic testing for achondroplasia. Prenat. Diagn. 22, 933–940 (2002).

    Article  Google Scholar 

  55. Mundy, L. A world of their own. Washington Post Magazine (31 Mar 2002).

  56. Savulescu, J. Education and debate: deaf lesbians, 'designer disability', and the future of medicine. BMJ 325, 771–773 (2002).

    Article  Google Scholar 

  57. Stern, S. J. et al. Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. J. Med. Genet. 39, 449–453 (2002).

    Article  CAS  Google Scholar 

  58. Human Fertilisation and Embryology Bill. (House of Commons, Her Majesty's Stationery Office, 2008). [online], (2008).

  59. Emery S., Blankmeyer Burke, T., Middleton, A., Belk, R. & Turner, G. Clause 14(4)(9) of embryo bill should be amended or deleted. BMJ 336, 976 (2008); Rapid Responses [online]

    Article  Google Scholar 

  60. Bates, B. R. Public culture and public understanding of genetics: a focus group study. Public Underst. Sci. 14, 47–65 (2005).

    Article  Google Scholar 

  61. Turney, J. Public understanding of genetics: the deficit model. Encyclopedia of Life Sciences (John Wiley & Sons Ltd, 2006) (doi:10.1002/9780470015902.a0005862).

  62. Nelkin, D. Molecular metaphors: the gene in popular discourse. Nature Rev. Genet. 2, 555–559 (2001).

    Article  CAS  Google Scholar 

  63. Nelkin, D. Gene as a cultural icon. Encyclopedia of Life Sciences (John Wiley & Sons Ltd, 2006) (doi:10.1002/9780470015902.a0005860).

  64. Hellsten, I. The genome and its publics: towards a social and cultural understanding of genomics. New Genet. Soc. 24, 283–297 (2005).

    Article  Google Scholar 

  65. Shea, E. The gene as a rhetorical figure: 'nothing but a very applicable little word'. Sci. Cult. 10, 505–529 (2001).

    Article  Google Scholar 

  66. Condit, C. M. How geneticists can help reporters to get their story right. Nature Rev. Genet. 8, 815–820 (2007).

    Article  CAS  Google Scholar 

  67. Shakespeare, T. Disability Rights and Wrongs. (Routledge, London, 2006)

    Book  Google Scholar 

  68. Middleton, A., Hewison, J. & Mueller, R. Prenatal diagnosis for inherited deafness: what is the potential demand? J. Genet. Couns. 10, 121–131 (2001).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

My thanks to A. Clarke and A. Middleton, and to two anonymous reviewers, for their helpful comments.

Author information

Authors and Affiliations

Authors

Related links

Related links

FURTHER INFORMATION

List of conditions licensed by the HFEA

Policy, Ethics and Life Sciences Research Centre at Newcastle University

UK Genetic Testing Network

Rights and permissions

Reprints and permissions

About this article

Cite this article

Scully, J. Disability and genetics in the era of genomic medicine. Nat Rev Genet 9, 797–802 (2008). https://doi.org/10.1038/nrg2453

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/nrg2453

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing