Massively parallel sequencing methods, including whole exome sequencing (WES) and whole genome sequencing (WGS), can uncover unsolicited findings (UFs) that are unrelated to the original diagnostic goal. These approaches are commonly applied in the diagnostic evaluation of children with developmental delay (DD). However, existing policy guidelines on informed consent and the return of UFs are not adequately prepared to handle the unique moral issues that can emerge in such pediatric cases. In the present paper, we demonstrate that the current policy tendency to downplay the importance of the child’s future autonomy is mistaken, even when DD is involved. In earlier empirical research performed by our team, we observed that the future development of children with DD is often unpredictable, including uncertainty about whether they will eventually acquire the capacity for autonomous decision-making. Parents occasionally described feeling trapped in a Catch-22 situation when asked to decide about UFs before undergoing WES in a trio-analysis (where both parental and child DNA are sequenced).
A key motivation for agreeing to WES was the hope of obtaining clearer information about their child’s potential development. At the same time, responsible decision-making about whether to receive or forgo information on UFs requires some understanding of the child’s likely future capacity for autonomy. This problematic Catch-22 arises directly from current policy requirements that compel parents to choose UFs before sequencing takes place (trio analysis). We contend that this observation has important implications for revising existing policies on the return of UFs in WES/WGS. Accordingly, we propose new guidelines that incorporate two main elements. First, the informed consent procedure should be implemented in stages. Second, distinct criteria should be applied for withholding or disclosing a UF in DD cases, depending on the degree of certainty regarding the child’s prospective development of autonomous capacities. When integrated with a dynamic consent approach, these two elements of our proposed guidelines could help resolve major moral difficulties encountered when children undergo genomic sequencing to investigate a DD.
