“Personalized Medicine”, “Precision Medicine”, or “Individualized Medicine” is a concept that has modern applications to treatment of malignancies, heart disease, cystic fibrosis, HIV, asthma, hepatitis C, alpha 1 antitrypsin deficiency, among many disease. Jameson and Longo (2015) define precision medicine “as treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic, or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations”. In respect to Autism, our advancements in understanding the disorder has not yet translated to our ability to provide precision medicine. We have amassed a wealth of knowledge of the disorder, but have limited therapies to treat it.
According to a report by Sahin and Sur (2015), the heritability of autism has been estimated between 0.7–0.8%, including de novo mutations and epigenetic and environmental factors configuring complex risk architecture (Frye and Rossignol, 2016). Genome analysis has shown association with autism and 15q11–13, 16p11.2, and 22q11.2 copy number variants (CNV) and single nucleotide variants which some of them are de novo (not found in either parent). In addition, several studies, using whole exome sequencing, have estimated between 400-1,000 susceptibility genes associated with autism (Kim and Leventhal, 2015).
Even though the advances in basic neuroscience and human genetics, according to Sahin and Sur (2015), patients with autism spectrum disorder have limited pharmacological options. So far, the FDA has approved only two drugs to treat irritability and not symptoms domain of autism, Risperidone (dopamine antagonist) and Aripiprazole (dopamine agonist). It is imperative to validate a set of measures, indicators or biomarkers (molecular, imaging and behavioral) to develop medications or a particular treatment which target different autistic phenotypes.
Early diagnosis of subtypes of autism would be important in testing which targeted treatment plans are most effective.
Francisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.