Analysis of 88 adult patients referred for genetics evaluation

Abstract

We present a series of 88 adult patients referred for diagnostic genetic services in two settings. Patients referred for prenatal diagnosis, adult-onset neurodegenerative disease or cancer susceptibility counseling were specifically excluded from analysis. Information was obtained regarding age, gender, referral sources, previous genetics evaluation, referring diagnosis, final diagnosis, diagnostic test, and recommendations. The patients were able to be grouped into seven general categories: multiple congenital anomalies with or without mental retardation (26 patients), collagen-connective tissue disorders (18 patients), mental retardation (12 patients), chromosomal abnormalities (12 patients), bone growth disorders (6 patients), endocrine/metabolic (8 patients), and miscellaneous (6 patients). Patients and referring providers were not surveyed regarding utility of the evaluation. However, genetics notes were reviewed on all patients and potential benefits of the evaluation were identified. All patients had at least one potential benefit, with the majority having several. This study represents one of the largest published groups of non-institutionalized adult patients that have undergone comprehensive genetic evaluation. The role of the clinical geneticist as a member of the health care team in this population will be discussed.