Abstract: This talk will discuss genomic sequencing (GS) in pediatrics and the ethical challenges. GS is increasingly being performed to diagnose rare disorders, individualize cancer treatments, and inform drug selection and dosing (pharmacogenomics), and is expanding to carrier status and prenatal testing, and potentially screening for disease risk. This is the promise of genomic medicine, i.e., using genomic information to inform patient care.
One consequence of GS is the discovery of secondary findings, unrelated to the primary indication for GS, which indicate that the patient has a “medically actionable” (preventable and/or treatable) condition. Although identifying an unsuspected medically actionable condition enhances the ability of health care providers to intervene to prevent disease, often such findings are unsolicited, i.e., unrelated to the indication for sequencing or the patient’s health concerns. In addition, many findings are of unknown significance and clinically not actionable. This variability in the certainty and actionability of the data leads to ethical tensions that emerge in clinical care regarding the return of genetic information to patients, which are particularly complex when adults decide for their children.
Moreover, much, if not most, clinical sequencing is conducted in children with conditions likely to be genetic in origin. Ethical issues center around consent and assent, the limits of proxy consent provided by parents, and the return of secondary findings for conditions that are of adult onset. Traditionally, bioethicists have agreed that, out of respect for a child’s “right to an open future,” children should not be genetically tested, unless the discovery of a positive result could lead to a medical intervention during childhood.
This traditional bioethical idea is coming under increasing pressure. People argue that this older model erroneously conceives of children in terms that are too individualistic and atomistic—that the model fails to recognize that children live in families, and that what is good for families is ultimately good for the children who are part of them (potentially opening the way for parents to use testing results from their children to, e.g., consider in their future reproductive planning). In addition, there have been concerns that genetic risk information was uncertain and upsetting to parents, that it could damage the parent-child bond, create “patients in waiting” among children, and foreclose the child’s choice of whether to seek this information as an adult. The latter issues may be particularly relevant when one considers the possibility of applying to newborn screening (NBS).
Visiting Professor in Ethics / Department of Human Genetics Research Seminar
Location and Address
Public Health, A115