Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series

• Published in: Journal of personalized medicine Vol. 11; no. 8; p. 755
• Main Authors: Peltekova, Iskra, Buhas, Daniela, Stern, Lara, Kirby, Emily, Yusuf, Afiqah, Elsabbagh, Mayada
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 30.07.2021; MDPI
• Subjects: Autism; Case reports; Children; Children & youth; Collaboration; Consent; Enrollments; Ethics; Families & family life; Genetic counseling; Genetic research; Genomics; Integration; Pediatrics; Personal health; Precision medicine; Teams
• ISSN: 2075-4426; 2075-4426
• DOI: 10.3390/jpm11080755

The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series (n = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.