37: Ethical Implications of Genetic Testing for Developmental Disorders

Abstract

Background: Genetic testing for developmental problems is routine. Because of increased performance, microarray-based Comparative Genomic Hybridization (CGH) has replaced karyotyping. Up to 30% of children with developmental problems have an abnormal CGH. Using CGH results to establish diagnosis and prognosis may be complex. Objectives: Examine the impacts of a CGH on families of children with developmental problems. Design/Methods: Ongoing pilot study. Interview with families of children with developmental delay who had CGH testing. Results: Preliminary results; n=21 parents of children zero to six years of age with developmental delay. Families identify both positive and negative impacts of CGH. The following themes were identified: - LIMITED UNDERSTANDING of CGH and its implications by parents and families (recall, indications, benefits, limitations, implications). - COMPLEX DIVULGATION of results: to child, siblings and family: "this is a diagnosis for the whole family". - GENETIC DETERMINISM: "This is why hours and hours of doing his homework with him barely worked. We now know there is little we can do" (abnormal CGH); "We will work hard because there is some hope" (normal CGH). - GUILT: could be increased or decreased. "Deep down, I felt it was something I had done during my pregnancy. Now I know his genes are fine and I am relieved it is not"; "I also have the weird band, so does our last child. It comes from me and it is very hard to live with that" (abnormal CGH). - ANXIETY: may be increased or decreased with both normal and abnormal tests. - EFFECT ON HEALTHCARE SERVICES were diverse but mainly unchanged because services are based on child's functioning. Some parents reported increased anxiety because their child was not eligible for services despite the fact that the CGH suggested that long-term disability was likely. Conclusions: Using CGH in the context of developmental delay can have both positive and negative impacts on families and children; both need to be discussed during pre-test counseling and when returning results. Negative impacts have been overlooked and CGH has replaced the karyotype. Increasingly detailed (and expensive) genetic testing technologies, such as whole exome sequencing, are beginning to be used in clinical settings. Before such technologies can be routinely used in practice, it is essential to appropriately assess the impacts these new genetic tests can have on children and families. Parents cannot provide informed consent without prior understanding of these impacts.