At the intersection between research and clinical diagnosis, I am interested in developing clinical-grade genomic testing for human disease. I am particularly interested in translating genomic findings in cancer, pharmacogenomics, and complex diseases to guide individualized diagnosis, prognosis and therapeutic decisions.
In my training, I pioneered early work exploring the utility of targeted next-generation sequencing and then exome sequencing for the rapid genetic diagnosis of disorders of sex development (DSD). Through the use of targeted exome sequencing we increased the rate of genetic diagnosis in DSD to nearly 40% of patients, thus significantly shortening the diagnostic odyssey. This work led us to propose a novel, genetics-centered approach within pediatric genetics and endocrinology, where genetic testing would be performed as an initial screening test. Identification of a novel variant would be followed by clinical confirmatory testing to validate the effect of the mutation in the patient. Confirmatory tests would be based on the predicted effect of the mutation on endocrinologic and metabolic pathways. This would limit the number of invasive and stressful stimulatory testing commonly done to obtain a DSD diagnosis.