Early Successes in Remote Research: Enabling Enrollment in Clinical Trials
October 30, 2024
Too much of the time, families are told that a loved one’s diagnosis is NOT genetic. They are told the risk for other family members is low, particularly in individuals who appear to have “sporadic” occurrences (i.e., no reported family history of the same condition). Fortunately, individuals decide to pursue genetic testing anyway and when some eventually find out otherwise - their diagnosis IS genetic in nature.
Why is this the norm when there are approved gene-specific therapies available for neurodegenerative disorders? One could argue that the standard of care for individuals with neurodegenerative disorders is not keeping up with the rapid improvements in technology. Clinicians are regurgitating old numbers from over ten years ago, training in genetics in medical schools is limited to a few short lectures, and there are limited individuals with the up-to-date genetic knowledge and time to provide counseling and testing guidance. Given this reality, many patients (particularly those in rural areas) lack access to individuals who are comfortable with the nuances of ordering genetic testing. But we are working to change this!
Our goal at Synapticure is to increase awareness of the importance of genetic counseling and testing, and to offer genetic testing to individuals with a diagnosis or family history of a neurodegenerative disorder. The percentages of neurodegenerative disorders caused by a genetic predisposition are too high to NOT offer genetic testing to all individuals with a neurodegenerative disorder. For example, it is expected that around 20% of individuals with amyotrophic lateral sclerosis (ALS), Parkinson’s, or fronto-temporal dementia (FTD) would have a genetic cause of their symptoms identified if they pursued genetic testing. This percentage is expected to increase as new gene discoveries are made. Additionally, the percentages drastically increase in the presence of a strong family history. For example, an individual with ALS and a family history of ALS has closer to an 80% chance to have a genetic cause of their diagnosis identified through genetic testing.
As gene-specific therapies continue to be developed and approved, the importance of offering genetic testing and counseling continues to grow in importance. Don’t hesitate to reach out to our team if you or someone you know could benefit from genetic testing, which is available at no cost to individuals with ALS and those with a family history of ALS. Research testing is available at no cost to individuals with Parkinson’s disease, and clinical genetic testing panels are also available and are often fully covered for those with a diagnosis. If you are interested in learning more about Synapticure and the services we provide, please sign up to learn more. Ultimately, we believe genetics will play a vital role in helping us understand each patient’s individual form of neurodegenerative disease.
No one should be able to tell someone “it’s not genetic.” Even with a negative genetic testing result, we advise reviewing results with a genetic counselor to ensure that you have had the most up to date testing and have a way to pursue additional testing as new discoveries are made.
