Skip to main content

Advertising Disclaimer »

Main menu

  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors/Reviewers
    • Submit Manuscript
    • Author Guidelines
    • Reviewer Guidelines
    • Open Access
    • Editorial Policies
  • Content
    • Current Issue
    • Online First
    • Archive
    • Blogs
    • Topic/Program Collections
    • AAP Meeting Abstracts
  • Pediatric Collections
    • COVID-19
    • Racism and Its Effects on Pediatric Health
    • More Collections...
  • AAP Policy
  • Supplements
  • Multimedia
    • Video Abstracts
    • Pediatrics On Call Podcast
  • Subscribe
  • Alerts
  • Careers
  • Other Publications
    • American Academy of Pediatrics

User menu

  • Log in

Search

  • Advanced search
American Academy of Pediatrics

AAP Gateway

Advanced Search

AAP Logo

  • Log in
  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors/Reviewers
    • Submit Manuscript
    • Author Guidelines
    • Reviewer Guidelines
    • Open Access
    • Editorial Policies
  • Content
    • Current Issue
    • Online First
    • Archive
    • Blogs
    • Topic/Program Collections
    • AAP Meeting Abstracts
  • Pediatric Collections
    • COVID-19
    • Racism and Its Effects on Pediatric Health
    • More Collections...
  • AAP Policy
  • Supplements
  • Multimedia
    • Video Abstracts
    • Pediatrics On Call Podcast
  • Subscribe
  • Alerts
  • Careers

Discover Pediatric Collections on COVID-19 and Racism and Its Effects on Pediatric Health

American Academy of Pediatrics

A statement of reaffirmation for this policy was published at

  • e20181836
From the American Academy of PediatricsPolicy Statement

Ethical and Policy Issues in Genetic Testing and Screening of Children

COMMITTEE ON BIOETHICS, COMMITTEE ON GENETICS, AND, THE AMERICAN COLLEGE OF MEDICAL GENETICS AND, GENOMICS SOCIAL, ETHICAL and AND LEGAL ISSUES COMMITTEE
Pediatrics March 2013, 131 (3) 620-622; DOI: https://doi.org/10.1542/peds.2012-3680
  • Article
  • Info & Metrics
  • Comments
Loading
Download PDF

Abstract

The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform best practices. This policy statement represents recommendations developed collaboratively by the American Academy of Pediatrics and the American College of Medical Genetics and Genomics with respect to many of the scenarios in which genetic testing and screening can occur.

KEY WORDS
  • genetic testing
  • genetic screening
  • newborn screening
  • predictive testing
  • disclosure
  • carrier identification
  • Abbreviations:
    AAP —
    American Academy of Pediatrics
    ACMG —
    American College of Medical Genetics and Genomics
  • Background

    In 1953, Watson and Crick described the DNA double helix. Fifty years later, the full sequence of the human genome was published. Our knowledge of genetics grows rapidly, as does consumer interest in undergoing genetic testing. Statements about genetic testing of children in the United States written in the past 2 decades need to be updated to consider the ethical issues arising with new technologies and expanded uses of genetic testing and screening.1,2 The growing literature on the psychosocial and clinical effects of such testing and screening can help inform us about best practices.

    Genetic testing and screening of minors are commonplace. Every year, ∼4 million infants in the United States undergo newborn screening for metabolic, hematologic, and endocrine abnormalities for which early treatment may prevent or reduce morbidity or mortality.

    Outside of newborn screening, genetic testing of children is less commonly performed. Diagnostic genetic testing may be performed on a child with signs or symptoms of a potential genetic condition or for treatment decisions made on the basis of results of pharmacogenetic assays. Genetic testing may also be performed on an asymptomatic child with a positive family history for a specific genetic condition, particularly if early treatment may affect morbidity or mortality. The American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) provide the following recommendations regarding genetic testing and screening of minors. An accompanying technical report provides ethical explanations and empirical data in support of these recommendations (http://www.nature.com/gim/journal/vaop/ncurrent/full/gim2012176a.html).3

    GENERAL Recommendations

    1. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child.

    2. Genetic testing is best offered in the context of genetic counseling. Genetic counseling can be performed by clinical geneticists, genetic counselors, or any other health care provider with appropriate training and expertise. The AAP and ACMG support the expansion of educational opportunities in human genomics and genetics for medical students, residents, and practicing pediatric primary care providers.

    Diagnostic Testing

    • 3. In a child with symptoms of a genetic condition, the rationale for genetic testing is similar to that of other medical diagnostic evaluations. Parents or guardians should be informed about the risks and benefits of testing, and their permission should be obtained. Ideally and when appropriate, the assent of the child should be obtained.4

    • 4. When performed for therapeutic purposes, pharmacogenetic testing of children is acceptable, with permission of parents or guardians and, when appropriate, the child’s assent. If a pharmacogenetic test result carries implications beyond drug targeting or dose-responsiveness, the broader implications should be discussed before testing.

    Newborn Screening

    • 5. The AAP and ACMG support the mandatory offering of newborn screening for all children. After education and counseling about the substantial benefits of newborn screening, its remote risks, and the next steps in the event of a positive screening result, parents should have the option of refusing the procedure, and an informed refusal should be respected.

    Carrier Testing

    • 6. The AAP and ACMG do not support routine carrier testing in minors when such testing does not provide health benefits in childhood. The AAP and ACMG advise against school-based testing or screening programs, because the school environment is unlikely to be conducive to voluntary participation, thoughtful consent, privacy, confidentiality, or appropriate counseling about test results.

    • 7. For pregnant adolescents or for adolescents considering reproduction, genetic testing and screening should be offered as clinically indicated, and the risks and benefits should be explained clearly.

    Predictive Genetic Testing

    • 8. Parents or guardians may authorize predictive genetic testing for asymptomatic children at risk of childhood-onset conditions. Ideally, the assent of the child should be obtained.

    • 9. Predictive genetic testing for adult-onset conditions generally should be deferred unless an intervention initiated in childhood may reduce morbidity or mortality. An exception might be made for families for whom diagnostic uncertainty poses a significant psychosocial burden, particularly when an adolescent and his or her parents concur in their interest in predictive testing.

    • 10. For ethical and legal reasons, health care providers should be cautious about providing predictive genetic testing to minors without the involvement of their parents or guardians, even if a minor is mature. Results of such tests may have significant medical, psychological, and social implications, not only for the minor but also for other family members.

    Histocompatibility Testing

    • 11. Tissue compatibility testing of minors of all ages is permissible to benefit immediate family members but should be conducted only after thorough exploration of the psychosocial, emotional, and physical implications of the minor serving as a potential stem cell donor. A donor advocate or similar mechanism should be in place from the outset to avert coercion and safeguard the interests of the child.5

    Adoption

    • 12. The rationale for genetic testing of children in biological families should apply for adopted children and children awaiting placement for adoption. If a child has a known genetic risk, prospective adoptive parents must be made aware of this possibility. In rare cases, it may be in a child’s best interest to undergo predictive genetic testing for a known risk before adoption to ensure the child’s placement with a family capable of and willing to accept the child’s potential medical and developmental challenges. In the absence of such indications, genetic testing should not be performed as a condition of adoption.

    Disclosure

    • 13. At the time of genetic testing, parents or guardians should be encouraged to inform their child of the test results at an appropriate age. Parents or guardians should be advised that, under most circumstances, a request by a mature adolescent for test results should be honored.

    • 14. Results from genetic testing of a child may have implications for the parents and other family members. Health care providers have an obligation to inform parents and the child, when appropriate, about these potential implications. Health care providers should encourage patients and families to share this information and offer to help explain the results to the extended family or refer them for genetic counseling.

    • 15. Misattributed paternity, use of donor gametes, adoption, or other questions about family relationships may be uncovered “incidentally” whenever genetic testing is performed, particularly when testing multiple family members. This risk should be discussed, and a plan about disclosure or nondisclosure should be in place before testing.

    Direct-to-Consumer Testing

    • 16. The AAP and ACMG strongly discourage the use of direct-to-consumer and home kit genetic testing of children because of the lack of oversight on test content, accuracy, and interpretation.

    Lead Authors

    Lainie F. Ross MD, PhD (AAP Committee on Bioethics)

    Howard M. Saal, MD (AAP Committee on Genetics)

    Rebecca R. Anderson, JD, MS (ACMG Social, Ethical, and Legal Issues Committee)

    Karen L. David, MD, MS (ACMG Social, Ethical, and Legal Issues Committee)

    AAP Committee on Bioethics, 2011–2012

    Mary E. Fallat, MD, Chairperson

    Aviva L. Katz, MD

    Mark R. Mercurio, MD

    Margaret R. Moon, MD

    Alexander L. Okun, MD

    Sally A. Webb, MD

    Kathryn L. Weise, MD

    Past Contributing Committee Members

    Armand H. Matheny Antommaria, MD, PhD

    Ian R. Holzman, MD

    Lainie F. Ross, MD, PhD

    Liaisons

    Douglas S. Diekema, MD, MPH – American Board of Pediatrics

    Kevin W. Coughlin, MD – Canadian Pediatric Society

    Steven J. Ralston, MD – American College of Obstetricians and Gynecologists

    Consultant

    Jessica W. Berg, JD, MPH

    Staff

    Alison Baker, MS

    AAP Committee on Genetics, 2011–2012

    Robert A. Saul, MD, Chairperson

    Stephen R. Braddock, MD

    Emily Chen, MD, PhD

    Debra L. Freedenberg, MD

    Marilyn C. Jones, MD

    James M. Perrin, MD

    Beth Anne Tarini, MD, MS

    Past Contributing Committee Members

    Howard M. Saal, MD

    Gregory M. Enns, MB, ChB

    Jeffrey R. Gruen, MD

    Liaisons

    Katrina M. Dipple, MD, PhD – American College of Medical Genetics

    Stuart K. Shapira, MD, PhD – Centers for Disease Control and Prevention

    Sara M. Copeland, MD – Health Resources and Services Administration

    Melissa A. Parisi, MD, PhD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

    W. Allen Hogge, MD – American College of Obstetricians and Gynecologists

    Staff

    Paul Spire

    ACMG Social, Ethical, and Legal Issues Committee, 2011–2012

    Karen L. David, MD, MS, Chair

    Louis E. Bartoshesky, MD, MPH, Vice Chair

    Rebecca R. Anderson, JD, MS

    Robert G. Best, PhD

    Jodi D. Hoffman, MD

    Masamichi Ito, PhD*

    Amy A. Lemke, MS, PhD

    Mitzi L. Murray, MD

    Richard R. Sharp, PhD

    Vikas Bhambhani, MD

    Board Liaison

    Lynn D. Fleisher, PhD, JD

    Past Contributing Committee Members

    Alexander Asamoah, MD, PhD

    Gary S. Gottesman, MD

    Lainie F. Ross, MD, PhD

    * Dr Masamichi Ito works for Athena Diagnostics, a company that performs genetic testing in minors.

    Footnotes

    • This document is copyrighted and is property of the American Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements with the American Academy of Pediatrics. Any conflicts have been resolved through a process approved by the Board of Directors. The American Academy of Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of this publication.

    • All policy statements from the American Academy of Pediatrics automatically expire 5 years after publication unless reaffirmed, revised, or retired at or before that time.

    References

    1. ↵
      1. American Society of Human Genetics Board of Directors; American College of Medical Genetics Board of Directors
      . Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 1995;57(5):1233–1241pmid:7485175
      OpenUrlPubMed
    2. ↵
      American Academy of Pediatrics Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics. 2001;107(6):1451–1455. Reaffirmed October 2004
    3. ↵
      1. American Academy of Pediatrics Committee on Bioethics, Committee on Genetics,
      2. American College of Medical Genetics Social, Ethical and Legal Issues Committee.
      Ethical and policy issues in genetic testing and screening of children. Genetics in Medicine. 2013;15(3): In press
    4. ↵
      American Academy of Pediatrics Committee on Bioethics. Informed consent, parental permission and assent in pediatric practice. Pediatrics. 1995;95(2):314–317. Reaffirmed October 2006
    5. ↵
      1. American Academy of Pediatrics Committee on Bioethics
      . Children as hematopoietic stem cell donors. Pediatrics. 2010;125(2):392–404pmid:20100753
      OpenUrlAbstract/FREE Full Text
    • Copyright © 2013 by the American Academy of Pediatrics
    PreviousNext
    Back to top

    Advertising Disclaimer »

    In this issue

    Pediatrics
    Vol. 131, Issue 3
    1 Mar 2013
    • Table of Contents
    • Index by author
    View this article with LENS
    PreviousNext
    Email Article

    Thank you for your interest in spreading the word on American Academy of Pediatrics.

    NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

    Enter multiple addresses on separate lines or separate them with commas.
    Ethical and Policy Issues in Genetic Testing and Screening of Children
    (Your Name) has sent you a message from American Academy of Pediatrics
    (Your Name) thought you would like to see the American Academy of Pediatrics web site.
    CAPTCHA
    This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
    Request Permissions
    Article Alerts
    Log in
    You will be redirected to aap.org to login or to create your account.
    Or Sign In to Email Alerts with your Email Address
    Citation Tools
    Ethical and Policy Issues in Genetic Testing and Screening of Children
    COMMITTEE ON BIOETHICS, COMMITTEE ON GENETICS, AND, THE AMERICAN COLLEGE OF MEDICAL GENETICS AND, GENOMICS SOCIAL, ETHICAL, AND LEGAL ISSUES COMMITTEE
    Pediatrics Mar 2013, 131 (3) 620-622; DOI: 10.1542/peds.2012-3680

    Citation Manager Formats

    • BibTeX
    • Bookends
    • EasyBib
    • EndNote (tagged)
    • EndNote 8 (xml)
    • Medlars
    • Mendeley
    • Papers
    • RefWorks Tagged
    • Ref Manager
    • RIS
    • Zotero
    Share
    Ethical and Policy Issues in Genetic Testing and Screening of Children
    COMMITTEE ON BIOETHICS, COMMITTEE ON GENETICS, AND, THE AMERICAN COLLEGE OF MEDICAL GENETICS AND, GENOMICS SOCIAL, ETHICAL, AND LEGAL ISSUES COMMITTEE
    Pediatrics Mar 2013, 131 (3) 620-622; DOI: 10.1542/peds.2012-3680
    del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
    Print
    Download PDF
    Insight Alerts
    • Table of Contents

    Jump to section

    • Article
      • Abstract
      • Background
      • GENERAL Recommendations
      • Diagnostic Testing
      • Newborn Screening
      • Carrier Testing
      • Predictive Genetic Testing
      • Histocompatibility Testing
      • Adoption
      • Disclosure
      • Direct-to-Consumer Testing
      • Lead Authors
      • AAP Committee on Bioethics, 2011–2012
      • Past Contributing Committee Members
      • Liaisons
      • Consultant
      • Staff
      • AAP Committee on Genetics, 2011–2012
      • Past Contributing Committee Members
      • Liaisons
      • Staff
      • ACMG Social, Ethical, and Legal Issues Committee, 2011–2012
      • Board Liaison
      • Past Contributing Committee Members
      • Footnotes
      • References
    • Info & Metrics
    • Comments

    Related Articles

    • AAP Publications Reaffirmed or Retired
    • Google Scholar

    Cited By...

    • FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation
    • Cancer Genetic Counseling--Current Practice and Future Challenges
    • Professionals accounts of genetic testing in adoption: a qualitative study
    • Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq
    • Spinal Muscular Atrophy: Past, Present, and Future
    • Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier
    • Disclosure of Misattributed Paternity
    • Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
    • Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project
    • Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project
    • A 4-Step Framework for Shared Decision-making in Pediatrics
    • Choosing Wisely Canada: The Canadian College of Medical Geneticists (CCMG) list of five items physicians and patients should question
    • Ethical considerations in genomic testing for hematologic disorders
    • Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1
    • Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study
    • Neonatal Genomics: Part 2--Applications
    • Genomic Contraindications for Heart Transplantation
    • Newborn Sequencing in Genomic Medicine and Public Health
    • Consent by Proxy for Nonurgent Pediatric Care
    • A Push for Progress With Shared Decision-making in Pediatrics
    • Next-Generation Sequencing and the Return of Results
    • Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease
    • The genetic assessment of looked after children: common reasons for referral and recent advances
    • Potential Psychosocial Risks of Sequencing Newborns
    • Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection
    • Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening
    • An Adoptive Parental Perspective on Personal Genomic Screening
    • Defining and managing incidental findings in genetic and genomic practice
    • Genetic Testing of Children for Diseases That Have Onset in Adulthood: The Limits of Family Interests
    • Whole-Genome Sequencing in Newborn Screening Programs
    • Stirring the Simmering "Designer Baby" Pot
    • Sickle cell trait testing and athletic participation: a solution in search of a problem?
    • New Guidelines on Genetic Testing and Screening in Children
    • On the Ethics of Clinical Whole Genome Sequencing of Children
    • Ethics and Genomic Incidental Findings
    • Patient Autonomy and Incidental Findings in Clinical Genomics
    • AAP Policy Statement on Genetic Testing and Screening of Children
    • Google Scholar

    More in this TOC Section

    • Health Disparities in Tobacco Use and Exposure: A Structural Competency Approach
    • Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
    • Child Life Services
    Show more FROM THE AMERICAN ACADEMY OF PEDIATRICS

    Similar Articles

    Subjects

    • Current Policy
    • AAP Policy Collections by Authoring Entities
      • Council on Genetics
      • Committee on Bioethics

    Keywords

    • genetic testing
    • genetic screening
    • newborn screening
    • predictive testing
    • disclosure
    • carrier identification
    • Journal Info
    • Editorial Board
    • Editorial Policies
    • Overview
    • Licensing Information
    • Authors/Reviewers
    • Author Guidelines
    • Submit My Manuscript
    • Open Access
    • Reviewer Guidelines
    • Librarians
    • Institutional Subscriptions
    • Usage Stats
    • Support
    • Contact Us
    • Subscribe
    • Resources
    • Media Kit
    • About
    • International Access
    • Terms of Use
    • Privacy Statement
    • FAQ
    • AAP.org
    • shopAAP
    • Follow American Academy of Pediatrics on Instagram
    • Visit American Academy of Pediatrics on Facebook
    • Follow American Academy of Pediatrics on Twitter
    • Follow American Academy of Pediatrics on Youtube
    • RSS
    American Academy of Pediatrics

    © 2021 American Academy of Pediatrics