Genetic counseling and ethical issues for autism

Abstract

Exciting progress is being made in the journey toward discovery of genes conferring risk for autism and autism spectrum disorders. Currently, genetic counseling for idiopathic autism rests on clinical diagnosis and empiric risk estimates. While no genetic test for risk of autism currently exists, it is possible that such a test may emerge in the near future, and that commercial availability may precede adequate understanding of test characteristics. The complexity of multifactorial conditions like autism raises a host of ethical and counseling challenges. For families to benefit from new genetic knowledge about autism, it will be important for their practitioners to be knowledgeable about the issues, utilize appropriate educational interventions and emerging management options, and help families across the cultural spectrum cope with these challenges. © 2006 Wiley‐Liss, Inc.

Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

“…Therefore, it is critical that these data are provided to families in a sensitive manner, with extensive counseling that helps them evaluate risk as we understand it at this time. 33 It is important to convey that recurrence estimates are on the basis of group averages, and, in most cases, it is not yet possible to counsel parents regarding individual levels of risk. A thorough genetic work-up is essential as part of the etiologic investigation for all individuals with ASD and may have important implications for risk counseling.…”

Identification and Evaluation of Children With Autism Spectrum Disorders

“…For now, the existing dichotomy regarding the extent of testing in research versus clinical settings is challenging. 301 Existing data do not support routine application of any particular test battery, nor do they suggest that tests currently under investigation be routinely performed on all children with ASDs at this time.…”

“…They also promote varying clinical indications for extensive molecular testing and neuroimaging when the clinical validity of a positive finding is yet unknown in many cases. 301 Some investigators have reported a positive yield when, in fact, the identified abnormality was nonspecific, did not relate to a known autism-related etiology, and did not affect counseling and/or management (eg, delayed myelinization on MRI). 302 Medical symptoms should be evaluated on a case-by-case basis; rather than reflect an etiology, an abnormal test result may indicate that a child with an ASD has a coexisting condition (eg, a gastrointestinal disorder).…”

The genetics of autistic disorders and its clinical relevance: a review of the literature

“…The limited clinical validity of genetic testing for autism and the related ethical concerns have recently been delineated by McMahon et al 267 It seems of particular relevance to keep in mind the complex genetics and uncertainty principle as well as the right of the individual and the family not to participate in genetic testing.…”