Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Family health history (FHH) is a simple and cost-effective clinical tool widely used by genetic professionals. Although the value of FHH for assessing personal and familial health and reproductive risk within a prenatal population has been demonstrated in past studies, its utility within a genetic carrier screening population has not been evaluated. The purpose of this study was to examine the utility of FHH as a clinical screening tool and explore the general outcomes of full FHH evaluations within an expanded carrier screening (ECS) population. A retrospective chart review was conducted for 500 consults, which included 3-generation pedigrees, using data from the genetic testing company Recombine. Data from the consult letters were examined to assess the incidence of findings that met criteria for further action. Findings were assigned to 1 of 2 categories: requiring further follow-up, or requiring general risk counseling, which could include risk assessment and/or patient education. Analysis was done to examine the types of follow-up recommendations that were made and the topics discussed in general risk counseling. Of the 190 consults with negative carrier screening results, 117 (23.4% of the total consults) had additional indications in the family histories that warranted recommendations for further follow-up, general risk counseling, or both. The family history evaluations elicited cancer genetic counseling recommendations in 141 consults with either positive or negative carrier screening results, which comprised 28.2% of all consults (95% confidence interval of 3.94%). Autoimmune and psychiatric disorders were the most frequent topics requiring general risk counseling, occurring in 16.8% and 10.0% of all consults (95% confidence interval of 3.28% and 2.62%, respectively). These findings demonstrate the high clinical utility of FHH and validate its use in healthcare settings. FHH evaluations provide supplemental information to an individual or Katherine Dao and Julia Russo 3/34 couple’s ECS results, allowing for more personalized health and reproductive risk assessments.

Included in

Genetics Commons