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.
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
Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child.
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.
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.
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.
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.
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
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.
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.
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.
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
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
Jessica W. Berg, JD, MPH
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
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
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
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.
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.
In reply: Genetic testing in the context of adoption should adhere to the same principles as genetic testing in other children
We thank Drs. Laberge and Cousineau for their comments on the American Academy of Pediatrics (AAP) and American College of Medical Genetics and Genomics (ACMG) Policy Statement on genetic testing of children published in Pediatrics  and its accompanying technical report, also co-written, published in Genetics in Medicine . Their focus was on the issue of genetic testing and adoption (policy #12) about which we state that in general, the same guidelines developed for children in biological families should apply for adopted children and children awaiting placement for adoption. However, we acknowledged that there may be rare circumstances warranting pre-adoption genetic testing. Drs. Laberge and Cousineau offer 3 cases, one case of an autosomal recessive condition that presents in infancy and 2 cases involving autosomal dominant conditions with low penetrance in childhood and variable expressivity. They suggest that the "policy statement should offer more detailed guidance to help clinicians assess whether a given situation is one of the rare cases for which predictive testing would be considered in the child's best interest."
The first case offered by Drs. Laberge and Cousineau describes a child at 25% risk for Zellweger syndrome, a condition that usually presents in infancy with profound hypotonia, liver failure and possibly renal failure which will require medical attention in early childhood. This is an excellent example of what we meant when we suggested that there may be some cases in which it may be appropriate to do pre-adoption genetic testing for the optimal management of the child, not only for diagnosis but also to help in developing treatment and management plans.
The other two cases involve autosomal dominant conditions (Neurofibromatosis-2 and myotonic dystrophy) with variable expressivity and low penetrance in childhood. In the case of neurofibromatosis-2, if the child has a known family history (e.g., a birth parent with neurofibromatosis-2), then genetic testing in childhood would be clinically indicated. Although the age of onset is variable and signs and symptoms do not usually present until young adulthood, there is the possibility of developing vestibular schwannomas during later childhood and early diagnosis and surgery can preserve hearing. In the case of myotonic dystrophy, again in the face of a known family history there is an even wider range of age of onset, but testing is still indicated in childhood, primarily for management of the child given the known association with developmental delays and cardiomyopathy. These are cases in which we would offer genetic testing to biological parents. Our statement emphasizes that the same guidelines should hold and therefore it would be appropriate for Drs. Laberge and Cousineau to offer testing for these conditions, although there may be reasonable disagreement as to whether such testing should be offered pre-adoption or only post- adoption.[4,5] At minimum, as stated in our report, "prospective adoptive parents have an interest in obtaining as much family medical history as possible and should be informed of any clinical genetic concerns identified in a comprehensive physical and developmental examination." We believe that offering genetic testing in such cases should involve consultation with colleagues and ethicists regarding the morally appropriate range of actions.
In sum as we noted in our policy statement and technical report, these situations will be quite rare. We do not envision genetic testing when there is no known family history and there are no clinical reasons to suspect a genetic condition. Although Drs. Laberge and Cousineau suggest that we provide more detailed guidance, we believe that general guidelines are not likely to assist in resolution and that what is needed is a highly contextualized multidisciplinary approach that considers whether this is an intrafamilial or non-related adoption, the reasons for adoption (infertility versus avoidance of a known familial genetic condition), a detailed report of the family history, when available, regarding age of onset and severity of the condition in relatives, as well as the age and health of the child to be adopted. An algorithmic approach will not suffice.
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. POLICY STATEMENT: Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics 2013; 131: 620-622.
2. Ross LF, Saal HM, David KL, Anderson RR. Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine. 2013;15(3):234-45. doi: 10.1038/gim.2012.176.
3. Laberge A-M, Cousineau J. Genetic testing in the context of adoption should adhere to the same principles as genetic testing in other children. Letter to Pediatrics May 13, 2013. On the web at: http://pediatrics.aappublications.org/content/131/3/620.abstract/reply#pediatrics_el_55790.
4. Clarke A. The genetic testing of children. Working Party of the Clinical Genetics Society (UK). Journal of Medical Genetics. 1994;31(10):785-797.
5. Wertz DC, Reilly PR. Laboratory Policies and Practices for the Genetic Testing of Children: A Survey of the Helix Network. American Journal of Human Genetics 1997; 61: 1163-1168.
Conflict of Interest:
Genetic testing in the context of adoption should adhere to the same principles as genetic testing in other children
In their recent policy statement, the American Academy of Pediatrics and the American College of Medical Genetics and Genomics stated that, in the context of adoption, "in rare cases, it may be in the 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" . The ACMGG goes further and warns that "testing may leave the child with a potentially stigmatizing diagnosis that interferes with permanent placement." In that context, we think that the AAP policy statement should offer more detailed guidance to help clinicians assess whether a given situation is one of the rare cases for which predictive testing would be considered in the child's best interest. To illustrate the concerns with the current version of the guidelines, we submit three different scenarios.
In some cases, the disease in question will lead to significant care needs in the short term. For example, it can be easily argued that it is in the best interest of a child at 25% risk for Zellweger syndrome to be tested, because the level of care and support needed from the prospective parents will be significant and required in the short term. However, some early-onset diseases have no consequences on daily care: should predictive testing for familial adenomatous polyposis guide adoption decisions in a newborn? It would be difficult to argue that the surveillance needed would put such an undue burden on prospective parents that predictive testing is needed to guide their decision to adopt this child.
Some genetic diseases can lead to impairments, but not necessarily in the short term. For example, the average age of onset in neurofibromatosis 2 is in young adulthood. Should the child's NF2 status influence adoption decisions because symptoms may appear during childhood in a minority of cases? Or because that child may develop hearing impairment as a young adult? The child will have a normal life for many years before the symptoms of illness appear.
Some diseases, like myotonic dystrophy, have a wide range of age of onset. In those cases, predictive testing is usually left until the child is old enough to decide for himself, even if biological parents request it. Is it justifiable to test an asymptomatic child at risk for myotonic dystrophy in the context of adoption when we wouldn't offer such testing otherwise? If tested, a child may be found to have inherited a mutation but not actually develop the disease until adulthood.
Biological parents have access to prenatal diagnosis, but that does not mean that prospective parents can request genetic tests for an existing child for whom they are not yet responsible. Why should prospective parents have a right to know the child's genetic status in greater detail than other parents? Who is the advocate of the child in that situation? Prospective parents have their own interests. With that in mind, pediatricians should be mindful of the risk of stigmatization: labelling an asymptomatic child with a genetic disease does not guarantee that the child's best interests will be served in the short or long term.
Conflict of Interest:
What The Ethical & Policy Issues in Genetic Testing and Screning in Children Achieved
Dr. Katz observes that in his experience, genetic tests are "almost never helpful in the treatment of the individual." We agree with Dr. Katz that careful discussion about the clinical utility of a genetic test is an important component of the consent process, and that for some individuals genetic testing will not be useful or cost-effective. The purpose of our policy statement was to provide recommendations regarding the ethical management of genetic testing and screening of minors in a wide range of clinical scenarios. We provide a more detailed discussion of the empirical data and the ethical considerations that support these recommendations in the companion Technical Report published in Genetics in Medicine.
We also wish to note that other clinicians find genetic testing in general, and microarray testing in particular, to be clinically relevant. A recent report by Ellison et al in Pediatrics found that "actionable diagnoses constitute a significant proportion (35%) of all pathogenic abnormalities detected by microarray analysis". In children with developmental delays, studies show that abnormal results from microarrays have not infrequently led to changes in management.[4,5] Although we did not address the appropriate work-up for children with developmental disabilities, autistic spectrum disorder, or intellectual disabilities, these issues are explored in a clinical report by the American Academy of Pediatrics Committee on Genetics entitled "Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays". We encourage all interested readers to review these publications.
1) Katz D. "The Ethical & Policy issue article on Genetic testing failed to address a major problem". eLetter to Pediatrics. March 8, 2013.
2) Ross LF, Saal HM, David KL, Anderson RR, and the American Academy of Pediatrics Committee on Bioethics, Committee on Genetics; 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): 234-245.
3) Ellison JW, Ravnan JB, Rosenfeld JA, Morton SA, Neill NJ, Williams MS, Lewis J, et al. Clinical Utility of Chromosomal Microarray Analysis. Pediatrics. 2012; 130:5 e1085-e1095.
4) Saam J, Gudgeon J, Aston E, and Brothman AR. How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay. Genetics in Medicine. 2008; 10(3): 181-186.
5) Riggs E, Wain K, Riethmaier D, Smith-Packard B, Faucett W, Hoppman N, et al. Chromosomal microarray impacts clinical management. Clinical Genetics. 2013 Jan 25. doi: 10.1111/cge.12107. [Epub ahead of print].
6) Moeschler, JB, Shevell M and the Committee on Genetics. Clinical Genetic Evaluation of the Child with Mental Retardation or Developmental Delays. Pediatrics. 2006;117;2304-2316.
Conflict of Interest:
The Ethical & Policy issue article on Genetic testing failed to address a major problem
These comments need not be limited to Microarrays. The following can likely can be extended to a variety of tests we do routinely either diagnostically or to "MONITOR" how a condition is doing. I was disappointed that this article on Ethical and Policy issues did not directly address the painfully obvious issue that although microarrays are frequently reported as abnormal, they are almost never helpful in the treatment of the individual. Inquires to geneticists and developmentalists at numerous institutions fail to provide sufficient examples of a changes in treatment that were directed by abnormal microarrays. The literature abounds with reports of abnormalities in around 30% of autistic children. When I point out that this is an expensive test that does not change how we treat the child, the geneticists and developmentalists reply: "but the parents really want to know why." I disagree. When I explain to the parents the likelihood that the result will change how we and their likely out of pocket costs, their interest in having a microarray evaporates. One of the authors comments to me privately: "The real benefit of all this testing may be in learning more about the genetics, but that would be research and not clinical care, and it should be done as research so that the results are aggregated and we do actually learn from it." Extrapolating my experience with microarrays I project that the retail cost is well over a billion dollars. Is this really what we want for our health care dollar?
Conflict of Interest: