Utilisation and Perceived Value of Genetic Counsellors Within US Haemophilia Treatment Centres

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 counselling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required.

This study assessed the provision of genetic counselling services, involvement of genetic counsellors (GCs), and the perceived value of GCs within haemophilia treatment centres (HTCs) in the United States.

A survey was emailed to 396 HTC providers. Of these, 115 responses were received, representing 68 of 149 US HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement.

Although GCs have extensive training in genetics, genomics and counselling skills, nearly one-third of respondents (34.9%, n = 38) reported that a GC is not involved with the HTC nor are referrals made. Almost all GC-engaged respondents (98%, n = 22) and GC-referral respondents (95%, n = 20) agreed that 'GCs have a unique skill set that is highly valuable to an HTC clinic' compared to only 62% (n = 20) of non-GC-engaged respondents (p = 0.001). Additionally, 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 provision of genetic counselling and increase healthcare equity.