Follow-up care by a genetic counsellor for relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison

Abstract

Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC. Uptake and resource use were recorded. For 189 participants, we evaluated quality of care experienced, patient satisfaction and perceived personal control (PPC) using validated questionnaires and estimated the average cost difference of these two modes of care. Maximum patient satisfaction scores were achieved more frequently at the CGC (86% vs 45%, Po0.01). In terms of follow-up care provided, the genetic counsellor did not perform worse than the cardiologist (95% vs 59%, Po0.01). The genetic counsellor more often enquired about the relative-at risk's health (100% vs 65%, Po0.01) and family health (97% vs 33%, Po0.01), measured blood pressure (98% vs 29%, Po0.01) and gave disease-specific information (77% vs 52%, Po0.01). Although PPC scores were equal in both groups, the average cost per patient of CGC follow-up was 25% lower. Follow-up of phenotype-negative relatives at risk for DCM/HCM at a CGC led to greater patient satisfaction and is well-appreciated at lower cost. CGC care is a good alternative to conventional cardiological follow-up for this growing group of patients.

Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions

“… 30 , 31 Follow-up contacts by healthcare professionals with the proband (and relatives carrying the familial variant) regarding informing at-risk relatives may also improve uptake, since barriers regarding informing relatives can be discussed and support can be offered to overcome them. 30 – 32 Considering the uptake over time, particularly the steep declining rate after the first year, follow-up contacts should ideally take place after 2 months and again after 1 or 2 years following disclosure of the test result to the proband, for example, as proposed in the study of Nieuwhof et al 33 that describes a cardiogenetic follow-up clinic. Unfortunately, limited research has been performed on how effective interventions are in improving family communication.…”

The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy—A systematic review and meta‐analysis

“…Seven studies (3,954 individuals) reported on the uptake of genetic counseling, which was delivered by a variety of healthcare providers, including genetic counselors, cardiologists, and nurses (Table 1). The uptake of genetic counseling ranged from 37% to 68% in probands (Hudson et al, 2019; Khouzam et al, 2015; Otten et al, 2015) and 38%–84% in at‐risk relatives (Christiaans et al, 2008; Helio et al, 2020; Nieuwhof et al, 2017; van den Heuvel et al, 2020). Uptake of genetic counseling did not differ when counseling was provided by a genetic counselor/nurse versus a cardiologist (Nieuwhof et al, 2017).…”

“…Uptake of genetic counseling did not differ when counseling was provided by a genetic counselor/nurse versus a cardiologist (Nieuwhof et al, 2017). Finally, uptake of genetic counseling for pediatric patients was 56% (Christiaans et al, 2008;van den Heuvel et al, 2020).…”

“…Uptake of genetic counseling by probands and at-risk relatives varied dramatically. Notably only one study specifically reported on the uptake of genetic counseling by a genetic counselor/nurse (Nieuwhof et al, 2017) Tomasov et al, 2014;Wordsworth et al, 2010).…”

Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy

“…The lack of a pathogenic or likely pathogenic variant does not rule out a genetic cause, as variants in genes not known to cause DCM may be present; in this situation, the patients should inform their first-degree family members, and those family members should undergo clinical screening for DCM every three to five years. Genetic counselors represent a critical resource for providing this information to patients [32].…”