As precision medicine and personal gene testing have become more relevant, we have been working to bring CADASIL to the attention of committees and professional organizations that write guidelines for medical genetic testing. We think there are 3 primary factors that make NOTCH3 a great candidate for broader medical awareness when it comes to genetic testing:
- lack of awareness and diverse, often subclinical presentation for CADASIL means doctors miss a lot of cases
- the recommended intervention (specialist surveillance and avoidance of certain meds etc.) has a major effect on prognosis and quality of life
- this intervention is relatively low-risk (i.e. nonsurgical)
#1 is particularly important because it’s key to building greater awareness for understanding stroke and dementia through the lens of genetics. With NOTCH3 elevated to the list of genetic ‘heavy hitters’ like BRCA1, it will bring CADASIL a lot of much-needed awareness; not to mention all the people who will get properly diagnosed who otherwise would never have been tested for NOTCH3!
How to help
If you or a loved one are working through stroke or dementia symptoms and are taking a precision medicine approach, ask to include NOTCH3 in the sequencing.