Choosing well for children's futures: An empirical-ethics study on decision-making for pediatric genomic sequencing

Massively parallel sequencing techniques, such as whole exome sequencing and whole genome sequencing map a large portion of a person’s DNA all at once. This stands in sharp contrast to previous genetic techniques that only analyze single or small groups of genes. In a clinical context this makes it is possible to reach a diagnosis much faster and cost-effective. However, the fact that these technologies look at such a large portion of a person’s DNA, is not only where the advantages come from, but also where certain moral questions arise. As a result of the vast amount of data that is collected, there is always a possibility of revealing incidental findings that can have far-reaching consequences for patients’ and their families.

Such findings include disease-causing variants for various kinds of disorders with: differing symptoms; varying gradations of (preventive) medical “actionability” or even no medical treatment options; and ages of manifestation (child- versus adult-onset). Relatives can have different interests in knowing or not knowing such information that may conflict with one another. Especially in child cases, questions concerning incidental findings become even more complex, since children are not able to make decisions for themselves and parents must decide for their child.

Currently there is much divergence in how informed consent procedures and return of incidental results policies ought to be structured. This dissertation presents findings from qualitative research regarding the experiences of parents and children for making choices about sequencing and possible incidental findings. These results are combined with ethical reflection to devise concrete policy recommendations so that the use of sequencing techniques is morally responsible.