Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


This research analyzes the demographic determinants of testing uptake in a highly facilitated cascade testing protocol pilot effort for families with inherited cancer-predisposing mutations. The program provided no-cost genetic testing to the family members of mutation carriers using direct contact, telephone genetic counseling, and mailed saliva kits. This facilitated intervention resulted in high uptake of testing for second degree relatives and reduced sex-based risk disclosure. Uptake rates were highest among females and older individuals. Young Caucasian males were most likely to decline testing. Contact was limited for non-Caucasian and international individuals with low English-language proficiency, resulting in lower uptake rates for these groups. Overall, uptake rates were comparable to traditional testing methods and conditional uptake rates were lower than expected. More work is needed to improve upon facilitated testing methods and to elucidate why some facilitation tools may lead to reduced testing uptake.