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

INTRODUCTION: 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. AIM: 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. METHODS: 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. RESULTS: 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'. CONCLUSION: 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.