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142 Mind the gap: low uptake of genetic testing and family screening for dilated cardiomyopathy in a ‘real-world’ uk heart failure service

heartjnl · 2026-06-09 · canonical JSON source

7 visible annotations · policy: published · automated confidence ≥ 75.00%

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Introduction Genetic testing is increasingly central to the management of dilated cardiomyopathy (DCM), enabling cascade screening and refining diagnosis and prognosis. In England, the National Genomic Test Directory provides defined eligibility criteria for DCM genotyping; however, real-world integration within heart failure (HF) services remains uncertain. The 2023 ESC cardiomyopathy guidelines (GLS) also incorporate genetic testing into clinical decision-making, particularly for risk stratification where the presence of high-risk genotypes may lower the threshold for ICD consideration beyond left ventricular ejection fraction alone. We evaluated pathway performance for eligible DCM patients in a UK district general hospital HF service and considered the potential implications of limited genotyping for contemporary genotype-informed risk stratification.Methods Quality improvement baseline audit of all patients attending HF clinics (n=768). Electronic records were reviewed to identify patients with a DCM phenotype meeting National Genomic Test Directory eligibility for genetic testing (n=140). We collected process and outcome measures aligned to GLS, including multiparametric assessment (ECG, Holter, echocardiography, CMR), documentation of family history and 4-generation pedigree, referral to inherited cardiac conditions (ICC)/genetics services, and family screening. Descriptive analyses were performed.Results Median age at presentation was 53 years (IQR 44-60) and 48/140 (34.3%) were female. Multiparametric assessment was frequent: ECG 138/140 (98.6%), echocardiography 139/140 (99.3%), Holter monitoring 97/140 (69.3%) and CMR 105/139 (75.5%). Family history was documented in 56/139 (40.3%) and a pedigree in 2/140 (1.4%). Only 13/140 (9.3%) had evidence of referral for genetic counselling/testing, 29/140 (20.7%) had been referred to an ICC service and 11/140 (7.9%) had family screening arranged, leaving 129 families without documented screening. Fifty patients had a cardiac device; 90 patients had no ICD and no documented genetic evaluation. Among these 90, 83 had at least one risk marker associated with high-risk genotypes (LGE 54, NSVT 14, ventricular ectopy >200/24h 32, AV block 8, male sex 57, LVEF <45% 43). Following feedback to the HF team and introduction of an eligibility database/workflow, 4 new genetic referrals were initiated in a short remeasurement period (0 previously in the same period).Conclusions Despite national eligibility criteria, uptake of genetic testing and family screening for eligible DCM patients within a district general hospital HF service was low, with inconsistent recording of family history/pedigree. This represents a gap in genotype-informed risk stratification and cascade screening. A simple education plus direct-referral workflow for genetic testing (piloted at our hospital) showed early improvement; sustained change will require a multidisciplinary pathway with ICC/genetics services and ongoing measurement.Abstract 142 Table 1Baseline pathway metrics in DCM patients meeting UK Genomic Test Directory eligibility (n=140).MeasureBaselineEligible DCM meeting Genomic Test Directory criteria (of HF clinic cohort n=768)140/768 (18.2%)Family history documented56/139 (40.3%)4-generation pedigree documented2/140 (1.4%)Referred to inherited cardiac conditions (ICC) service29/140 (20.7%)Referral for genetic counselling/testing13/140 (9.3%)Family screening arranged11/140 (7.9%)Holter monitoring performed97/140 (69.3%)Cardiac MRI performed105/139 (75.5%)