Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Dec;28(6):700-704.
doi: 10.1097/MOP.0000000000000418.

Ethical issues in pediatric genetic testing and screening

Jeffrey R Botkin  1
Affiliations
Review

Ethical issues in pediatric genetic testing and screening

Jeffrey R Botkin. Curr Opin Pediatr. 2016 Dec.

Abstract

Purpose of review: Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with increased precision and lower cost. These powerful technologies raise a number of ethical issues in pediatrics, primarily because of the frequent lack of clinical utility of genetic information, the generation of secondary results and questions over the proper scope of parental authority for testing.

Recent findings: Several professional organizations in the fields of genetics and pediatrics have published new guidance on the ethical, legal, and policy issues relevant to genetic testing in children. The roles of predictive testing for adult-onset conditions, the management of secondary findings and the role of informed consent for newborn screening remain controversial. However, research and experience are not demonstrating serious adverse psychosocial impacts from genetic testing and screening in children. The use of these technologies is expanding with the notion that the personal utility of test results, rather than clinical utility, may be sufficient to justify testing.

Summary: The use of microarray and genome sequencing technologies is expanding in the care of children. More deference to parental decision-making is evolving in contexts wherein information and counseling can be made readily available.

PubMed Disclaimer

Conflict of interest statement

None to report

References

    1. Burke W, Korngiebel DM. Closing the gap between knowledge and clinical application: challenges for genomic translation. PLOS Genetics. 2015;11(2):e1004978. This article discusses the contemporary gap between the ability to test for genomic variants and the ability to use the information for clinical decision-making. The authors argue for research garnering move evidence of clinical outcomes of testing and for the development of more realistic goals for genomic risk assessment. - PMC - PubMed
    1. American Academy of Pediatrics, Committee on Bioethics, Committee on Genetics, and the American College of Medical Genetics and Genomics, Social, Ethical and Legal Issues Committee. Pediatrics. 2013;131:620. - PubMed
    1. Ross LF, Saal HM, David KL, et al. Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine. 2013;15(3):234–245. - PubMed
    1. Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD. ASHG Statement: Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics. 2015 Jul 2;97(1):6–21. doi: 10.1016/j.ajhg.2015.05.022. This article is the ASHG’s Points to Consider for genetic testing in children and adolescents. It covers a broad range of clinical and research applications including predictive testing, carrier testing, secondary finding, newborn screening, and professional education. - DOI - PMC - PubMed
    1. Borry P, Evers-Kiebooms G, Cornel MC, et al. Genetic testing in asymptomatic minors: Background considerations toward ESHG Recommendations. European Journal of Human Genetics. 2009;17:711–719. - PMC - PubMed

Publication types