Many US hemophilia treatment centers lack genetic counselors
Guidelines say genetic testing is important, but don't require counseling
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Nearly one-third of U.S. hemophilia treatment centers (HTCs) do not involve genetic counselors in patient care or refer patients for genetic counseling, despite widespread recognition among healthcare providers that these specialists offer valuable expertise, a U.S. survey found.
Healthcare providers across treatment centers recognized the value of genetic counselors in supporting decisions about genetic testing, explaining test results, and educating patients and families about inherited bleeding disorders.
“These results highlight the value of a [genetic counselor] within an HTC,” the researchers wrote. “This signifies the need to reassess the role of [genetic counselors] among HTCs to reduce inconsistencies in [the] provision of genetic counselling and increase healthcare equity,” researchers wrote.
The study, “Utilisation and Perceived Value of Genetic Counsellors Within US Haemophilia Treatment Centres,” was published in Haemophilia.
Genetic testing has been transformational
HTCs have provided comprehensive care for people with inherited bleeding disorders, such as hemophilia A and hemophilia B, in the U.S. since the 1970s. In recent years, advances in genetic testing have transformed the management of these conditions, helping confirm diagnoses, identify carriers and at-risk relatives, and guide hemophilia treatment and family-planning decisions.
As genetic testing becomes increasingly important, so does the need for specialized genetics expertise, the researchers said. “In HTCs, it has been suggested that regularly involving a [genetic counselor] in the comprehensive care of patients can reduce providers’ burden and ensure patients receive appropriate genetic testing, accurate results interpretation, recurrence risk information, and psychosocial support following a diagnosis,” they wrote.
Although current guidelines from the National Bleeding Disorders Foundation emphasize the importance of genetic counseling and testing, they do not require counseling to be provided by a certified genetic counselor. Instead, these services may be delivered by members of the HTC care team. “Consequently, provision of genetic counselling services continues to vary significantly among HTCs,” the team added.
To better understand how genetic counseling is being used and perceived within HTCs, researchers conducted a web-based survey of 396 healthcare providers across all 149 accredited U.S. HTCs within the country’s 10 HTC network regions.
Distributed via email in September 2020, the survey received 115 responses from 68 centers, representing 45.6% of all accredited HTCs and all network regions. Responses came from nurses (34.2%), medical directors (18.9%), administrative staff (18.9%), and physicians (15.3%).
About half of the respondents (46.8%) reported that their centers regularly involved genetic counselors, while 18.4% said patients were referred to a genetic counselor when needed. However, nearly one-third (34.9%) reported that their centers neither worked with a genetic counselor nor provided referrals.
Among centers without genetic counselor involvement, the most cited barriers were uncertainty about the benefits of employing a genetic counselor (26.2%), lack of funding (23.1%), and competing institutional priorities (20%). Most respondents (85.7%) who cited funding as a barrier, however, said they had never attempted to secure funding for a genetic counselor.
Providers who regularly worked with genetic counselors were more likely to recognize the value of genetic counselors within HTC care. Compared with respondents at centers without such involvement, they were significantly more likely to agree that genetic counselors provide a unique service to families affected by inherited bleeding disorders (100% vs. 65%), possess the expertise needed to integrate genetic services into patient care (100% vs. 77%), and ideally should be part of the HTC team (100% vs. 59%).
Regardless of whether their center involved a genetic counselor, more than 95% of respondents agreed that these specialists add value by explaining genetic concepts related to inherited bleeding disorders, guiding appropriate test selection, and helping families understand genetic test results and their implications.
Respondents also highlighted counselors’ role in educating patients, coordinating testing for at-risk relatives, interpreting genetic test results, and helping navigate insurance authorization and billing issues related to testing.
Nearly all respondents at centers with genetic counselor involvement (98%) or referral access (95%) agreed that genetic counselors bring a unique and highly valuable set of skills to HTC care, compared with 62% of respondents at centers without genetic counselor involvement.
The researchers noted that while genetic testing has advanced considerably in recent years, models of care at many HTCs haven’t changed much. “Reducing inconsistencies in the provision of genetic counselling may increase healthcare equity and optimise patient care,” the team wrote, recommending that genetic counselors be included as core members of HTC care teams.
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