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Patient Educ Couns. 2018 Feb;101(2):352-361. doi: 10.1016/j.pec.2017.07.029. Epub 2017 Jul 29.

Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder.

Author information

1
Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada. Electronic address: ny.hoang@sickkids.ca.
2
Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada. Electronic address: cheryl.cytrynbaum@sickkids.ca.
3
Department of Molecular Genetics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada; McLaughlin Centre, University of Toronto, Toronto, Canada. Electronic address: Stephen.Scherer@sickkids.ca.

Abstract

Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate. As the translation of this data is incorporated into clinical care, genetic professionals/counsellors, as well as other health care providers, will benefit from guidelines and tools to effectively communicate such genomic information. Here, we present a model to facilitate communication regarding the complexities of ASD, where clinical and genetic heterogeneity, as well as overlapping neurological conditions are inherent. We outline an approach for counselling families about their genomic results grounded in our direct experience from counselling families participating in an ASD research study, and supported by rationale from the literature.

KEYWORDS:

Autism Spectrum Disorder; Counselling model; Genetic counselling; Genetics of Autism Spectrum Disorder

PMID:
28803755
DOI:
10.1016/j.pec.2017.07.029
[Indexed for MEDLINE]

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