Abstract 13770: Systemic Intervention to Increase the Frequency of Genetic Counseling and Testing in Eligible Dilated Cardiomyopathy Patients

Abstract

Background: Although genetic testing (GT) in dilated cardiomyopathy (DCM) enables molecular diagnosis, family screening and provides prognostic information, it is underutilized. Our hypothesis was that systemic intervention (INT) in the heart failure (HF) clinic could increase the frequency of GT for DCM. Methods: Eligible DCM patients in a 17-month period before and after the INT were compared for frequency of genetic counseling and GT uptake. The INT comprised of the following: 1. Pre-emptive cardiovascular genomics e-consult (with a specialist in genetic DCM) for all new HF patients that could be canceled by the treating physician if the patient was considered ineligible or was uninterested. If eligible and patient was willing, 2. They were shown a video in person on genetic testing for DCM prepared by a genetics counselor 3. A trained HF clinic nurse provided answers to questions and completed the test requisition 4. Educational material was provided to the patient 5. Results were reviewed electronically and communicated to the patient via letter or phone call by the physician completing the e-consult. Clinical genetics consultation was available throughout the study period. Standard commercially available cardiomyopathy gene panels were used for GT. Results: There were 162 eligible DCM patients before and 194 after the INT. DCM patients were more likely to undergo genetic counseling post-INT versus (vs) pre-INT (33.5% vs 14.8%, OR 2.9, 95% CI 1.7-4.8, P <.0001). Similarly, DCM patients were more likely to undergo GT post-INT vs pre-INT (27.3% vs 13%, OR 2.5, 95% CI 1.4-4.3, P =.001). Consequently, the total number of patients who were diagnosed to have likely pathogenic or pathogenic DCM-related genetic variants increased from 2 pre-INT to 6 post-INT. These variants were detected in the following genes: FLNC (n=2), TTN (n=2), DES , LMNA , PLN and TNNT2 . Conclusion: An intervention that was pre-emptive, easily accessible and available to the healthcare provider was successful in raising the rates of genetic counseling and testing in DCM patients seen in the HF clinic. Whether such low-cost interventions will enhance cascade screening and provide an opportunity for precision medicine remains to be determined.