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Enhancing Impact of Genomics Research in ASD through Integration of Research Results into Routine Care Pathways – a Case Series
Objectives: We empirically investigated the challenges of returning genetic research results to individual participants, enrolled in genomics studies in ASD. We used systematic guiding principles drawn from the existing literature to facilitate the RoR process and aide the integration of genetic research results into clinical care for participants.
Methods: We report a case series (n = 16) involving the return of genetic results to research participants in large genomics studies in ASD, who were enrolled as children. We convened a work group of specialists that drew on relevant literature and their expertise in devising principles that would guide RoR. We implemented the principles in our RoR process to return genetic research results to participants and to integrate these results into their healthcare.
Results: The case-series demonstrates the ethical, clinical and practical challenges of RoR in ASD genomic studies for participants enrolled as children. The average time between enrolment and availability of a genetic research result was 5.5 years. At the time of RoR, the age of the participants ranged from 6 to 24 years; 6 of the participants had reached adulthood by the time of RoR. The majority of the research genetic results (n = 11) were CNVs, one revealed aneuploidy, and the remainder were SNVs. Most genetic changes were identified to be on chromosomes 1, 15 and 16. The majority of genetic changes (n = 10) occurred de novo. In 4 or the 16 cases specific challenges emerged in terms of communication of the results and/or their integration in clinical care pathways.
Conclusions: Our findings highlight that optimal use of genetic research results relies on their integration into individualized care pathways for participants. Ultimately, this approach can bridge the existing gap between research and healthcare in the management of complex genetic research results in ASD.