Date of Award

5-2021

Document Type

Thesis - Closed Access

Degree Name

MS in Human Genetics

First Advisor

Radhika Sawh, MS, CGC

Abstract

Rapid advancement of molecular genetics has transformed the diagnosis, treatment, and management of individuals with hereditary bleeding disorders. To provide effective, up-to-date genetic counseling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required. This study assessed the provision of genetic counseling services, the involvement of genetic counselors (GCs), and the perceived value of GCs within hemophilia treatment centers (HTCs) in the United States. A survey was emailed to 396 HTC providers. 115 responses were received, representing 68 of 149 U.S. HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement. Although GCs have extensive training in genetics, genomics, and counseling skills, nearly one-third (34.9%) of respondents reported that a GC is not involved with the HTC nor are referrals made. 98% of GC-engaged HTC respondents and 95% of GC-referrals agreed that “GCs have a unique skill set that is highly valuable to an HTC clinic” compared to only 62% of non-GC-engaged respondents (p= .001). Additionally, many respondents noted positive implications of integrating a GC within their HTCs, stating that GCs are “ideal for optimal patient care.” These results highlight the value of a GC within an HTC. This signifies the need to reassess the role of GCs among HTCs to reduce inconsistencies in the provision of genetic counseling and increase healthcare equity.

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