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

Autor:	Outram SM; Division of Prevention Science, University of California San Francisco, San Francisco, CA., Brown JEH; Program in Bioethics, Institute for Health and Aging, University of California San Francisco, San Francisco, CA., Norstad M; Program in Bioethics, Institute for Health and Aging, University of California San Francisco, San Francisco, CA., Zamora AN; Maternal and Child Health Research Institute, School of Medicine, Stanford University, Stanford, CA., Ackerman SL; Division of Prevention Science, University of California San Francisco, San Francisco, CA.; Department of Social and Behavioral Sciences, University of California San Francisco, San Francisco, CA.
Jazyk:	angličtina
Zdroj:	Journal of developmental and behavioral pediatrics : JDBP [J Dev Behav Pediatr] 2024 Sep-Oct 01; Vol. 45 (5), pp. e456-e462. Date of Electronic Publication: 2024 Jul 10.
DOI:	10.1097/DBP.0000000000001299
Abstrakt:	Objective: To evaluate how community-based experts respond to families seeking therapeutic and educational support services after pediatric genomic sequencing for rare conditions. Methods: 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. Results: 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. Conclusion: 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. Competing Interests: The authors declare that the research was conducted in the absence of commercial or financial relationships that could be construed as a potential conflict of interest. The research reported in this article was supported by grant U01HG009599 from the US National Institutes of Health. Disclosure: The authors declare no conflict of interest. (Copyright © 2024 Written work prepared by employees of the Federal Government as part of their official duties is, under the U.S. Copyright Act, a “work of the United States Government” for which copyright protection under Title 17 of the United States Code is not available. As such, copyright does not extend to the contributions of employees of the Federal Government.)
Databáze:	MEDLINE
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