Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape

Psychiatry is steadily moving toward a new conceptualization of brain disorders that blurs long-held diagnostic distinctions among neurodevelopmental and psychiatric conditions, including autism. Genomic discoveries are driving these changing perceptions, yet there has so far been minimal impact on traditional genetic counseling practices that continue to view autism through the lens of a dichotomous, all-or-none risk model.

High rates of comorbidity exist across autism spectrum disorder, schizophrenia, intellectual disability, and other brain-based disorders. Recent epidemiological studies have shown that co-occurrence of neurodevelopmental and psychiatric disorders is the rule, rather than the exception, in affected individuals and within families. Moreover, studies of chromosomal microarray analysis and whole exome sequencing have now detected many of the same pathogenic copy number and sequence-level variants across cohorts with different clinical presentations.

Going forward, the genetic counseling field will need to significantly adapt its approaches to pedigree interpretation, variant analysis, and patient education to more precisely describe both the chance and the nature of autism recurrence in terms of a continuum of brain dysfunction. These efforts will have implications for multiple practice areas and require philosophical changes for experienced practitioners and for the training of new genetic counselors. Resetting entrenched dichotomous notions about autism and other brain-based manifestations of genetic conditions will require a strategic educational effort on the part of the genetic counseling profession.