|Dr. Joseph Cubells|
Dr. Joseph Cubells is an Emory psychiatrist who focuses on working with adults with developmental and behavioral disorders, especially Autism Spectrum Disorders (ASD). He is on the cutting edge of using molecular genetics to identify genetic anomalies in his patients with the aim of improving and refining treatment packages. I spoke with Dr. Cubells about his work and the ethical implications of the use of genetic microarray tests with patients. After providing more details about how he uses molecular genetics in his practice, I will focus on our discussion of two primary issues related to his work: (1) the communication of genetic testing procedures and results to families and, (2) the role of health care systems in the widespread use of these tests.
Dr. Cubells is primarily engaged in clinic work. He has over 200 cases and works exclusively with adults (he does not see patients under the age of 16). Molecular genetics is one technique used in his patient management strategies: “I am very interested in the role of molecular genetic testing in the care of people with neurodevelopmental disabilities. Not so much establishing a diagnosis of autism though because autism is a behavioral diagnosis.” In other words, because there is no genetic or otherwise biologically based test currently available for autism, Dr. Cubells and his team are interested in diagnosing other genetic differences, such as Phelan McDermid Syndrome which occurs when a chromosome is deleted after conception (de novo) and can lead to a variety of physical and developmental disabilities. This condition, and many other genetic anomalies, may contribute or directly lead to the development of autistic characteristics. Most professionals, including myself and Dr. Cubells, now agree that there is not a single ‘autism’ but, rather, many different ‘autisms’ with many different causal pathways, both genetic and environmental.