Dr. Peter Jones and PhD. Takako Jones, of the Peter & Takako Jones Laboratory - a research laboratory specializing in FSHD at the University of Nevada, Reno (USA), is implementing a research project to improve diagnostic methods for Facioscapulohumeral Muscular Dystrophy (FSHD) and elucidate the genetic and epigenetic mechanisms of the disease.

Currently, genetic testing for FSHD (if available) is a complex, high-cost process that requires the patient to go to a medical facility for a blood sample and often requires a referral. The research team is evaluating the feasibility of an alternative diagnostic method that is private, low-cost and globally accessible.

The team developed a low-cost technique capable of identifying characteristic epigenetic features associated with FSHD1 and FSHD2 using DNA obtained from saliva samples. Study participants will contribute to the validation of this testing method, towards its recognition as an official FSHD diagnostic option. To date, this method has shown the ability to accurately distinguish FSHD1 and FSHD2.

Participants can choose to receive study results, including information about individual genetic and epigenetic characteristics in the region associated with FSHD, and see whether these characteristics correlate with FSHD1, FSHD2, or are unrelated. Even without receiving results, participants still contribute to the development of new diagnostic technology.

This is a research project and is not currently an approved medical diagnostic test. Results (if received) are confidential, are not included in medical records and are not currently eligible for use in clinical trials.

Aggregated (anonymized) results from global research will be published periodically in peer-reviewed scientific journals.

Participation is completely free, voluntary, confidential and can be done at home. The study was open to both adults and children (with written parental consent), in any country where mailing was possible.

Participants:

• People who have been diagnosed with FSHD using genetic testing
• People with a clinical diagnosis of suspected FSHD
• People at risk due to family history
• Healthy family members

Process:
Participants receive a saliva sample kit at home and send the sample to the laboratory. Results (if requested) will be returned approximately 3–6 weeks after the lab receives the sample.

Report content:

• Information about genetics and epigenetics
• Degree of correlation with FSHD or not
• If FSHD is present: classify as FSHD1 or FSHD2
• Overall comments from Dr. Peter Jones
• Reference materials and genetic counseling
• Illustrations of chromosomes, haplotypes, etc.

Security:
Results belong to the privacy of participants and will not be shared with any party without consent. Do not save in medical records unless the participant provides it themselves.

Important note:

• Not a biobank
• Do not sequence the entire genome
• Do not store or share DNA
• Do not make a list of participants

The saliva sample-based testing method is over 99% accurate, expanding access to FSHD diagnosis globally at zero cost to participants.