Bioethics of Genetic and Genomic Testing

Abstract

Genetic and genomic tests are becoming an increasingly important part of medical care. The knowledge gained from these tests can be used in a variety of ways, including making changes to medical treatments, informing reproductive decisions, and identifying patients' risk for developing diseases in the future. This information may also change the way individuals think about themselves and who they are, or change the way insurance companies and employers treat them. All of these uses raise important ethical questions. These issues have become even more important in recent years, as the tests being used in clinical care have expanded from genetic tests that look at a small number of genes to genomic tests that generate results across patients' entire genomes. Consideration of these ethical issues is an important part of ensuring that decisions to undergo genetic or genomic testing are informed, and that the results of these tests are used in ways that help rather than harm patients and their families.

Key Concepts

  • Genetic and genomic tests are used to uncover changes in DNA that may be important for patients or their family members.
  • Before deciding to have a genetic or genomic test, patients are entitled to receive relevant information and make an informed choice.
  • It might be justified in some circumstances to treat individuals differently based on their genetic risk, but society needs to work towards an agreement on when discrimination on the basis of genetic information is acceptable and when it is unacceptable.
  • Because genetic changes can be inherited, genetic and genomic test results often create ethical issues related to patients' reproductive decisions and the health of their family members.
  • Newborn screening tests need to be selected carefully so that the possibility of helping infants is greater rather than harming.
  • Predictive or predispositional genetic testing may provide useful medical information, but it can also cause patients to be anxious about their future or change the way they think about themselves.
  • It can be very difficult for patients and healthcare providers to anticipate and address secondary genomic findings.
  • Not everyone has equal access to genetic and genomic tests, or to the treatments that may make predictive or predispositional genetic tests useful.

Keywords: genetic testing; genomic testing; ethical issues; prediction; reproduction; psychosocial

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Further Reading

AAP Committee on Bioethics, AAP Committee on Genetics and ACMG Social Ethical and Legal Issues Committee (2013) Ethical and policy issues in genetic testing and screening of children. Pediatrics 131 (3): 620–622.

ACMG Board of Directors (2015) ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome‐scale sequencing. Genetics in Medicine 17 (1): 68–69.

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Fullerton SM (2011) The input–output problem: whose DNA do we study, and why does it matter? In: Burke W, Edwards KA and Goering S (eds) Achieving Justice in Genomic Translation: Re‐thinking the Pathway to Benefit. Oxford, NY: Oxford University Press.

Green RC, Lautenbach D and McGuire AL (2015) GINA, genetic discrimination, and genomic medicine. New England Journal of Medicine 372 (5): 397–399.

Presidential Commission for the Study of Bioethical Issues (2013) Anticipate and Communicate: Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct‐to‐Consumer Contexts. Washington, DC: Presidential Commission for the Study of Bioethical Issues.

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How to Cite close
Brothers, Kyle B, and Clayton, Ellen W(Mar 2017) Bioethics of Genetic and Genomic Testing. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0003478.pub2]