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

Iskra Peltekova,Daniela Buhas,Mayada Elsabbagh,Lara Stern,Emily Kirby,Afiqah Yusuf

doi:10.3390/jpm11080755

Abstract

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.

Highlights

The rapid advancement of genomic research in Autism Spectrum Disorders (ASD)has been supported by the growing participation of affected children and families, and by the use of increasingly powerful genomic tests, such as microarrays, exome and genome sequencing (ES, GS)
We present 16 cases involving the return of actionable genetic research results to participants who enrolled as children, and their families, in largescale genomic studies in ASD, across two different healthcare jurisdictions in Canada
We suggest that achieving optimal utility of genetic research results for participants relies on their integration in routine clinical care pathways

Summary

Introduction

The rapid advancement of genomic research in Autism Spectrum Disorders (ASD)has been supported by the growing participation of affected children and families, and by the use of increasingly powerful genomic tests, such as microarrays, exome and genome sequencing (ES, GS). Genetic tests are used to find an etiology for the behaviorally defined diagnosis of ASD, which may guide healthcare for the affected individual or family [1,2]. Existing clinical genetic testing recommendations are outdated and do not take into account the large increase in genetic information about ASD [3]. They do not consider the variability in care pathways within different healthcare systems [4]. Recommendations by the American College of Medical Genetics and Genomics only offer direction on RoR related to secondary findings from clinical genetic testing [6]. Existing clinical RoR recommendations lag behind the fast pace of genomic discovery from ASD research and there is limited guidance in the context of neurodevelopmental conditions

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