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Newer Genetic Test for Autism More Effective


4 Star

Newer Genetic Test for Autism More Effective

Our Review Summary

This piece reports on a study, which found that a newer genetic test is better at detecting abnormalities linked to autism when compared to the standard tests. This was a well-referenced piece that met many of our criteria, but it would have been improved had it included:

  • a clearer discussion of why children with autism receive genetic testing;
  • information about the patients in the study, including their specific diagnoses;
  • a discussion of the spectrum of autism disorders;
  • information on the nuances of genetic testing, including potential psychological harms; and
  • a discussion of the cost of these tests.


Why This Matters

This is a story about an emerging diagnostic test for a childhood disorder that appears to have increasing prevalence. Knowledge of genetic predisposition to this disease is important.


Does the story adequately discuss the costs of the intervention?

Not Satisfactory

The story did not mention specific costs of the CMA test; however, it did indicate that not all insurance will cover this test. Since the story stated that  "both Children’s Hospital Boston and Montefiore have offered CMA testing for several years," some cost estimate could have easily been found.

Does the story adequately quantify the benefits of the treatment/test/product/procedure?


The story adequately presents the efficacy of three different genetic tests in identifying abnormalities that may be associated with autism—karyotype: 2%; fragile X: 0.5%; CMA: 7%.  It would have been helpful to let readers know that not all 933 people included in the study were tested with each of the three tests. According to the results, the CMA tests performed best in females with autistic disorder, but this was not reported.

Does the story adequately explain/quantify the harms of the intervention?

Not Satisfactory

There was no discussion regarding the emotional or social ramifications associated with receiving genetic testing results. 

Does the story seem to grasp the quality of the evidence?

Not Satisfactory

More information on who was included in this test would have been useful.  The majority of the patients were diagnosed with autistic disorder (n=447) and Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS) (n=454). A small number of participants had Asberger disorder (n=31).     

Does the story commit disease-mongering?


This story did not exaggerate the prevalence or seriousness of autism.

Does the story use independent sources and identify conflicts of interest?


This story included perspective from a pediatric geneticist unaffiliated with the research.

Does the story compare the new approach with existing alternatives?


The story provided data comparing the two standard genetic tests to the newer CMA test.

Does the story establish the availability of the treatment/test/product/procedure?


The story clearly states that not all hospitals offer the newer chromosomal microarray analysis (CMA) test. It could have also mentioned that genetic counseling services are not widely available in some geographic areas.

Does the story establish the true novelty of the approach?


The story clearly points out that genetic tests for autism are often performed, but the CMA test is relatively new. 

Does the story appear to rely solely or largely on a news release?

This story does not appear to rely largely on a news release.

Total Score: 7 of 10 Satisfactory


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