Genetic Testing in Children: Guidelines Updated

Ricki Lewis, PhD

February 21, 2013

A joint statement from the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) has updated clinical guidelines for genetic screening and testing situations affecting children and adolescents. The technical report from ACMG was published online February 21 in Genetics in Medicine; the AAP summary report also was published online February 21 in Pediatrics.

The statement is a response to new technologies, expanded access to genetic testing, and increased public interest in genetics and genomics.

The ACMG report distinguishes genetic screening (on a population to identify at-risk individuals) from genetic testing (diagnostic testing). For either goal, identifying mutations can help in diagnosis and delivering care, yet such information also can lead to stigmatization or discrimination.

The first 2 recommendations are general and set the tone for the others: Testing must be done in the best interest of the child, and genetic counselling is imperative.

The 2 organizations support testing a child with a distinct set of symptoms consistent with a known inherited disease as part of a diagnostic workup. They also support pharmacogenetic testing to select treatment.

In contrast, the organizations "strongly discourage the use of [direct to consumer] and home kit genetic testing of children," write Laine Friedman Ross, MD, PhD, from the Department of Pediatrics and the Department of Medicine, MacLean Center for Clinical Medical Ethics, University of Chicago, Illinois, and colleagues in the ACMG report. The objection stems from concerns about lack of oversight on test content, accuracy, and interpretation; the ephemeral nature of some genetic information; and the absence of pre- and posttest genetic counselling.

In between the classical diagnostic scenario and more recent DTC testing lies an ethical minefield of genetic testing applications, from newborn screening, which the groups support, to heterozygote carrier screening, which they support only if results are actionable during childhood, to histocompatibility testing, which they support only if an organ is to be donated to a family member.

Genetic screening or testing in school is strongly discouraged "because the school environment is unlikely to be conducive to voluntary participation, thorough consent, privacy, confidentiality, and appropriate counselling about test results," the AAP article states.

The recommendation for handling incidental findings of misattributed paternity calls for additional testing because uniparental disomy, new mutation, and procedural errors can account for single-gene differences between a father and child.

Predictive testing is appropriate for childhood-onset diseases, preferably with the child's assent. The organizations advise deferring tests for adult-onset diseases unless intervention during childhood can help or if the family is experiencing great distress from not knowing.

Potential adoptive parents should be allowed test results on genetic risks in a child. In rare cases, predictive testing is advised to be certain that the prospective family will be able to provide adequate care.

"These statements represent a collaborative effort among the genetics, pediatrics, and ethics communities, all of whom bring unique expertise and perspective to this discussion. As we enter a world in which examining a child's entire genome is possible, communication is going to be paramount for physicians, and not just about the technical aspects of testing but about families' expectations for testing and the potential implications of the test result for the parents and for the child," Beth Tarini, MD, assistant professor of pediatrics at the University of Michigan in Ann Arbor, told Medscape Medical News.

One author of the ACMG report, a member of the SELI Committee, works for Athena Diagnostics. Dr. Tarini has disclosed no relevant financial relationships.

Gen Med. Published online February 21, 2013.

Pediatrics. Published online February 21, 2013.

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