This commentary investigates the ethics of patenting autism genes. In 2017, Laboratory Corporation of America Holdings (AKA LabCorp) patented a method to detect mutations associated with an increased risk of developing an autism spectrum disorder (ASD). The method is based on the five variations in the HOMER1 gene that was found to be present in individuals with ASD, published in a 2012 study.
The authors question whether DNA sequences should even be patentable in the first place, a topic that has been under debate for many years. Additionally, they wonder if this patent would impede further investigation into other genetic markers of ASD. They comment on the idea that adding a genetic component to the diagnosis of ASD may make it more "valid or truthful", especially for a condition that is over diagnosed. However, because ASD is diagnosed at the phenotypic level, through behavioral assessment, genetic testing may complicate this. Because of this, they argue genetic analysis for diagnosis of ASD is remarkably different than using genetics to diagnose a Mendelian disorder. Additionally, as ASD and other neurological disorders are multifaceted, there is limited evidence for a test that is sensitive or specific enough to identify unique genetic markers. Lastly, because this methodology can be used on children and fetuses, the authors question whether having this ability to detect ASD before birth will influence people's reproductive decisions. Indeed, the fact that this methodology can be used before behavioral symptoms have even developed "denies the nature of ASD". With a diagnosis of increased susceptibility of ASD at birth or early childhood, an individual's life may be altered before it has even begun.
Rachel Nelson, February 11th, 2020 Potluck
https://www.nature.com/articles/nrg.2018.17.pdf?origin=ppub
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