Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


The current standard of care in offering predictive genetic testing for neurodegenerative diseases is that individuals wishing to have testing must have a known family mutation or well-documented family history of a specific disease. This model denies testing to individuals in families where the phenotype of the disease is less clear. However, NGS panel testing for many genes with overlapping phenotypes helps alleviate both the cost and tedious nature of a genetic “fishing expedition.” Panel testing increases the risk of receiving variants of unknown significance and, therefore, uncertainty. The goal of this research study is to examine the psychological impact of predictive testing of neurodegenerative disease using NGS panels. Methods: This pilot study looked at 15 at-risk participants with a family mutation and 8 without a known family mutation. Participants were evaluated serially: before testing, at 1 month and at 6 months after receiving results. Instruments measuring levels of anxiety, depression, ability to deal with uncertainty, coping strategies, perceived personal control, and rumination were used to evaluate the psychological impact of testing on the 2 groups. Results: No significant differences were found between the two groups. A noted trend was an increase in uncertainty after testing among those with a known mutation and a small decrease among those without a known mutation. Statistical significance was not observed due to small number of participants. Initial data suggest that predictive testing for neurodegenerative disease in individuals with a family history does not result in psychological distress. The study is ongoing.

Included in

Genetics Commons