Genetic Testing

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with
rare diseases access affordable genetic testing. The company has recently launched a no cost
genetic testing program for people with neurodegenerative and dementia conditions as part of
The Bluefield Project to Cure Frontotemporal Dementia (FTD). Individuals who meet the
criteria can receive whole genome sequencing (WGS) and C9orf72 (C9) hexanucleotide
repeat testing at no cost. This testing analyzes the entirety of your DNA for disease-causing
mutations associated with FTD and and other conditions.

Eligibility

To participate, candidates must reside in the United States. They must also be experiencing
symptoms of a neurodegenerative condition OR have received a clinical diagnosis of
frontotemporal dementia (FTD) without genetic testing that has confirmed a known FTD
mutation. Please note the program is for those currently experiencing symptoms; we are not
testing the likelihood that an asymptomatic individual will develop FTD or a related condition in
the future.
Eligibility for the program is determined by a brief, easy to understand online Symptom Checker.
The form is a screening tool that asks questions regarding your symptoms and medical history.
Care partners, friends, or family members are encouraged to submit on behalf of their loved one
if their loved one cannot complete the Symptom Checker without assistance.
Submission data will be evaluated to assess whether you (or your loved one) are eligible for
genetic testing. You will be notified in the following weeks via email.

How it works

● Go to the Symptom Checker website on any internet-connected device. Answer the
questions in their entirety. It should only take about five minutes.
● The Probably Genetic team will thoroughly evaluate your Symptom Checker response to
assess your eligibility. This typically occurs within one to two weeks.
● If you are eligible, you can claim your test, and the lab will send a kit right to your door.
Collect a saliva sample and ship it back in the pre-paid box. You will receive instructions
on how to do this via email.
● If genetic testing is offered, you will have access to both pre-test and post-test genetic
counseling with a board certified genetic counselor. The genetic counseling sessions are
virtual and are included at no cost to ensure people can make informed decisions and
understand the results.
● Results are available in 6 to 8 weeks. This test shows all disease causing mutations,
even those that are not dementia related.
● View the status of your Symptom Checker submission and/or test kit through the patient
portal. You can download a PDF copy of your genetic report, as well as a file containing
your raw genetic data.

Privacy

Patient privacy and the patient experience is of utmost priority. The Bluefield Project to Cure
FTD is sponsoring the program, but Probably Genetic will be the custodian of patient data. All
internal data structures are HIPAA compliant and the testing pipeline is fully CLIA and CAP
certified.
Any data that is passed on to any partner is de-identified and aggregated so that privacy is
protected. De-identified, aggregate data could, for example, mean insights on the average wait
for a diagnosis or the average symptom profile for a given condition—both of which help patient
advocacy and biotech organizations understand patient populations for these rare and ultra-rare
conditions.

Take the Symptom Checker Here: https://bit.ly/3WcjNh1

The Probably Genetic team is always open to feedback so the program is as successful as
possible for this community!

 

 

Phone: 540-425-0467

Your contribution makes a huge difference in the lives of many!