Analysis of 70 adult patients referred for genetics evaluation

Abstract

We present a series of adult patients referred for diagnostic genetic services. Patients referred for prenatal diagnosis, adult-onset neurodegenerative disease or cancer susceptibility counseling were specifically excluded from analysis. A total of 70 patients were identified. Information was obtained regarding age, gender, referral source, previous genetics evaluation, referring diagnosis, final diagnosis, diagnostic tests and recommendations. The patients were able to be grouped into 8 general categories: Multiple congenital anomalies (MCA)(13 pts.), Mental Retardation (MR)(12 pts.), Collagen-connective tissue disorders (12 pts.), Chromosomal abnormalities (9 pts.), Bone growth disorders (8 pts.), MR/MCA (6 pts.), Endocrine/metabolic (5 pts.) and miscellaneous (5 pts.). Patients and referring providers were not surveyed regarding utility of the evaluation. However, genetics notes were reviewed on all 70 patients and potential benefits of the evaluation were identified (examples include reassurance, anticipatory guidance, familial risk among others). All patients had at least one potential benefit, with the majority having several. This study represents one of the largest published groups of noninstitutionalized 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.