Newborn Screening and Early Intervention

The value of genomic technologies is often conceptualized as consisting of clinical and personal utility. However, nearly two decades of research with parents of children with congenital conditions and developmental disabilities has shown that many of the reasons parents seek a genomic diagnosis do not fit well within either of these categories. This work suggests that frameworks for utility comprised exclusively of clinical utility and personal utility have missed potentially important domains that fall in the “middle ground” between. Most of the care and services that improve functioning and quality of life for children with complex genetic conditions occur outside of physicians’ offices: physical, speech, and occupational therapies; behavioral intervention and other mental healthcare; family support groups; and special education services. The impact of genomic diagnosis on access to and quality of community-based services does not readily correspond to clinical or personal utility. Due to this gap in conceptual framing for possible utility, translational genomics research has tended to ignore whether receiving a genomic diagnosis provides utility (or disutility) in these community contexts, and what barriers and facilitators might influence these effects. In this panel, presenters will discuss conceptual and empirical work that offers the opportunity to better capture a broad range of implications of genomic technologies for various social and organizational systems – to reimagine the benefits of pediatric genomics.

Authors: Kyle Brothers, Norton Children's Research Institute; Sara Ackerman, University of California, San Francisco; Amy Lemke, Norton Children's Research Institute; Elizabeth Reynolds, RTI International; Jeff Brosco, Health Resources and Services Administration