Ethical and Policy Issues in Genetic Testing and Screening of Children

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. Pediatrics 2013;131:620-622 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 (

Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing

“…In the clinical setting, many patients offered WES were children, and we therefore had to discuss the implications of secondary findings in a minor. It was important to incorporate a discussion of the risk for symptoms of these conditions in a child, the value of a child’s autonomy, guidelines regarding genetic testing in children for adult-onset conditions and the potential risks of the testing including genetic discrimination and adverse psychosocial response (Committee On et al, 2013). These were complex discussions to have with families who were focused on finding a diagnosis for themselves or their child.…”

Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing

“…To remain consistent with the expressed parental desires and the joint AAP/ACMG guidelines covering predictive genetic testing in children for adult-onset diseases, we report here only the generalities of our incidental findings within the list of 56 genes recently suggested by the ACMG (14,15) Applying the rare disease filtering criteria (minor allele frequency of 0.02 or greater in the 1000 Genomes Project April, 2012 release or the Complete Genomics 69 public genomes databases) to the list of 56 genes yields only one uncommon protein altering variant other than KCNH2 . Not occurring in an arrhythmia related gene, the variant is uncommon in aggregate but displays a minor allele frequency of 0.04 within the 1000 genomes admixed American population, from which the patient traces her ancestry.…”

Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice

“…It is important to keep this finding in mind as the clinical use of genomic sequencing in pediatric and adolescent populations becomes more common, making it necessary to decide whether secondary alterations associated with adult-onset conditions should be purposefully sought and returned (Mody et al, 2015). As stated by the American Academy of Pediatrics and American College of Medical Genetics and Genomics, and reinforced by the American Society of Human Genetics position statement, the decision to offer genetic testing and screening should be driven by the best interest of the child and should be made in the setting of genetic counseling (Botkin et al, 2015; Committee on Bioethics, 2013; Ross, Saal, David, & Anderson, 2013). …”