By Bartha Knoppers

Adults may choose whether or not to be told about certain research results or unexpected findings—but who decides for children?


With the advent of next generation sequencing technologies such as whole genome and exome sequencing, no subject has so captured the attention of policymakers and researchers as that of the return of research results and unexpected incidental findings.  This is because these technologies can now provide the sequence "map" of each individual tested, and with the costs of next generation sequencing decreasing rapidly, they are moving closer to becoming a standard element of clinical care. Yet pediatric issues have been lost in the cacophony of "must's", "should's" or "may wish to consider returning" recommendations.  Indeed, the proposed choice to know or not to know individual research results and incidental findings currently offered to adults, together with the array of responsibilities of ethics review boards, "incidentally" neglect the child.

The same cannot be said for the inclusion of children in research policies generally, or in drug trials or biobanking.  Why, then, is there a presumed "one size fits all" for the return of results?

The Scope of Parental Authority

While ultimately it is the duty of the State to protect the vulnerable citizen, for minors it is the parents who are recognized by law as health care decision makers. There may however be particular legal age limits which allow adolescents to seek confidential medical care or advice prior to the legal age of majority. This legislation, particular to minors declared or presumed to be mature, or, as determined by physicians on a case by case basis for medical care, may not be applicable in the research setting where more stringent requirements apply. Indeed, even though assent is sought for research from children as they mature, parental consent is required until the legal age for research is attained. Irrespective, in all cases legislators, physicians, researchers and parents are obliged to act in the best interests of the child and the child has the right to be heard where possible (as set out in the 1989 U.N. Convention on the Rights of the Child).  If this is so, what pediatric-specific concerns need to be addressed?

Return of Results

Generally, there has long been consensus that there should be no pediatric testing of children and minors for adult onset conditions. In other words, if there is no preventive treatment or palliative interventions available during childhood itself, the decision to be tested can wait until the child has reached adulthood. Next generation sequencing of a person's whole genome or exome not only reveals rare mutations (mostly undecipherable and untreatable), but also conditions of clinical significance that were not even the object of the research. Adults are asked during the informed consent process whether they wish to receive such unsolicited, clinically significant findings or not. However, should parents be able to deny the communication of such findings to them or to the child's physician on behalf of the child?

It could be argued that parents cannot refuse to receive results or incidental findings if three conditions are met: the result can be scientifically validated in another laboratory; it has clinical utility; and it can be acted on-that is, prevention or treatment is available during childhood. Under this approach, for a parent to refuse to receive such information could be considered neglect. Parents then should be told that if these three conditions are met, results and incidental findings will be communicated to them or to their child's physician.

It goes without saying that there are many other issues surrounding next generation sequencing in the pediatric context, but children should come first when addressing the return of results and incidental findings.


Bartha Maria Knoppers, PhD, holds the Canada Research Chair in Law and Medicine. She is Director of the Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University.

Funding for this article came from FORGE (Finding of Rare Genes Canada Consortium)

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