Experts' Views on Children's Access to Community-Based Therapeutic and Education Services After Genomic Sequencing Results.

Abstract

To evaluate how community-based experts respond to families seeking therapeutic and educational support services after pediatric genomic sequencing for rare conditions. We interviewed 15 experts in the provision of community-based services for children with intellectual differences, developmental differences, or both, as part of a large study examining the utility of exome sequencing. Interviewees highlighted the complexity of the overall referral and assessment system for therapeutic or educational needs, that genetic diagnoses are secondary to behavioral observations in respect to eligibility for the provision of services, and that social capital drives service acquisition. Although emphasizing that genetic results do not currently provide sufficient information for determining service eligibility, interviewees also highlighted their hopes that genetics would be increasingly relevant in the future. Genomic results do not usually provide information that directly impacts service provision. However, a positive genomic test result can strengthen evidence for behavioral diagnoses and the future trajectory of a child's condition and support needs. Interviewees' comments suggest a need to combine emerging genetic knowledge with existing forms of therapeutic and educational needs assessment, and for additional supports for families struggling to navigate social and therapeutic services.