How does mainstreaming cardiac genetic testing affect wait times and decision making for Dilated Cardiomyopathy?
Mainstreaming cardiac genetic testing means offering genetic testing directly in cardiology clinics rather than referring patients to a separate genetics appointment. For dilated cardiomyopathy (DCM), this approach can get results faster and reach more patients. However, it may also reduce how well patients understand the implications of testing, since formal genetic counseling is often not provided. A 2025 study found that while mainstreaming improved access and cut wait times, fewer patients made an informed choice about testing compared to those who attended a genetics webinar or one-on-one counseling 5.
What the research says
A 2025 study compared two pathways for offering genetic testing to patients with hypertrophic or dilated cardiomyopathy: a mainstreaming model in cardiology clinics and a referral to Medical Genetics (with an online webinar or one-on-one counseling). Uptake was higher in the mainstreaming pathway (82% vs. 69%), mainly because many patients referred to Genetics did not follow through 5. Wait times were also shorter: patients referred to Genetics waited a median of 94–185 additional days to be offered testing 5. However, only 62% of mainstreamed patients were considered informed about their testing decision, compared to 91% of patients who attended a Genetics webinar (p < 0.01) 5. Satisfaction with the decision was high in both groups 5.
A separate needs assessment of DCM Consortium principal investigators identified four care models for genetic evaluation. The two traditional models (synchronous and asynchronous) were rated more acceptable than a physician/advanced practice provider-led model 4. Notably, 88% of PIs reported using genetic information for treatment decisions, including ICD placement 4. This suggests that while mainstreaming may speed access, clinicians still value the expertise of genetics professionals.
Other studies highlight the importance of genetic testing in DCM. For example, TTN truncating variants are the most common genetic cause of DCM, and new metrics (PSI and QPI) can better predict disease penetrance and progression to advanced heart failure 1. Early age of onset in pediatric patients with TTN variants is a risk factor for major adverse cardiovascular events 6. These findings underscore why timely and informed genetic testing matters for DCM management.
What to ask your doctor
- What are the pros and cons of getting genetic testing through a cardiology clinic versus a genetics clinic?
- If I choose mainstreamed testing, how can I make sure I fully understand the results and what they mean for my family?
- How will my genetic test results affect my treatment plan, such as medications or ICD placement?
- Are there any support resources, like genetic counselors or webinars, available if I have questions after testing?
- How long would I typically wait for results under each testing pathway?
This question is drawn from common patient questions about this topic and answered using cited medical research. We do not provide individualized advice.