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Friday, April 13, 2012

Genetics and Autism

At The Huffington Post, Dr. Robert Klitzman writes that genetic testing may lead to discrimination:
The discovery of genes associated with autism raises these concerns anew. The Genetic Information Non-discrimination Act (GINA) is designed to try to prevent genetic discrimination in health care, but does not apply to life insurance, disability insurance or long-term care insurance. Currently, life insurers are free to request genetic information, and discriminate as a result.
Schools may learn of, or request genetic test results, and teachers may then discriminate against students with autism-associated mutations -- even if the mutation is not predictive (i.e., if some, but not all individuals with the mutation end up having symptoms). Parents may spend less time with a child found to have an autism-associated mutation than with other offspring.
Genetic information has been introduced into court rooms. The fact that a defendant in a crime has a mutation associated with autism may sway a court in judging guilt, causation, liability, or sentences.
Last week’s autism news was about prevalence. The CDC reported a 78 percent increase in autism prevalence since 2002. This week’s autism news is about genetics—three papers in Nature describe new genes associated with autism.
Is autism genetic or environmental? These new studies suggest it can be both. Genetics will not identify the environmental factors, but it may reveal some of the many syndromes within the autism spectrum (as in other neurodevelopmental disorders), it can define risk (as in other medical disorders), and it should yield clues to the biology of autism (revealing potential targets for new treatments). These three new papers on spontaneous mutations are an important milestone in a long journey. In parallel we need to find environmental factors, recognizing that there will be many causes for the autisms and many roads to find them.
Finally, an unavoidable insight from these new papers is that autism even when genetic may be spontaneous and not inherited in the sense that one or both parents carry some reduced form of the syndrome. Perhaps this insight will finally reduce the “blame the parents” legacy perpetuated for too long in the absence of scientific evidence.