The cause of intellectual disability (ID) is mostly genetic. However, up to 70 percent of people with ID remain without a diagnosis despite having had genetic testing. Although genetic changes causing ID can be inherited from one or both parents, ID often occurs for the first time in a child.

Many people with ID have facial features which can provide a clue to diagnosis. FaceMatch uses Imagus computer face-matching technology to match the faces of people with undiagnosed moderate to severe intellectual disability (ID). By matching faces from around the world, the aim is to match people with the same rare genetic conditions.

FaceMatch will also allow for the comparison of the faces of individuals without a diagnosis with those who have a confirmed genetic diagnosis. As there are many genes of unknown function, comparing the genetic test results of individuals with matching facial features may lead to the discovery of new ID genes.

FaceMatch is the first research project of its kind to use computer technology to match the faces of individuals who remain undiagnosed following genetic testing. The chance of finding a match will increase as more people participate in the FaceMatch Project.

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Things to Know

The aim of the FaceMatch Project is to improve the chance of obtaining a genetic diagnosis for children and adults with intellectual disability around the world.

Intellectual disability (ID) begins before adulthood and has a lasting effect on development.

Children and adults with ID have a significantly reduced ability to understand new or complex information and to learn and apply new skills.

Two to three percent of the population have ID with an IQ score of less than 70, and one in 200 have moderate to severe ID with an IQ of less than 50.

The cause of ID is most commonly genetic. A genetic change may occur unexpectedly by chance for the first time in a child or can be inherited from one or both parents.

Finding the genetic cause of a person’s ID can be very difficult.

A genetic diagnosis can provide answers for parents and can provide information that will help with management of the disability.

Understanding the biological pathway is the first step towards the development of targeted therapy in the future. A genetic diagnosis can also provide useful information for parents who are planning more children.

Approximately 30-50% of individuals with ID have a face which is different from their parents yet similar to other people with the same genetic condition.

People with ID may have a collection of physical features, characteristics and medical problems that together can be described as a syndrome. This is referred to as syndromic ID. Down syndrome, Prader-Willi syndrome and fragile X syndrome are examples of syndromic intellectual disability.

The FaceMatch Project aims to use secure computer vision technology to match facial features of unrelated individuals with ID. This will enhance the ability to find a diagnosis for individuals with these rare conditions and help identify new genes causing ID.

The FaceMatch Project uses computer vision technology to match the faces of individuals from around the world.

High-probability facial matches will be reported back to the nominated clinical geneticist/doctor for further investigation.

If a high-probability face match is not made at the time of enrolment, it is possible that a match will be found in the future. As more photographs are uploaded into the database, the chance of matching similar faces will increase.

If a high probability match is made, doctors can arrange to meet the parents to discuss the possible significance of the match.

Parents have the option to provide consent for their son / daughter’s photograph to be viewed by other parents / guardians when a match is made.

It may take months or possibly years before a close match is made. During this time, the FaceMatch team will send participants an annual newsletter about the project.

We encourage parents / guardians to add more photographs as their son / daughter grows older.

The FaceMatch Project uses modern technology to encrypt information sent between your computer and our services using SSL/TLS encryption.

How do I know my information is encrypted? You will be able to tell that your information is encrypted because the first part of the web address (URL) will read "https" instead of "http", and your browser will also display a padlock icon (the exact location of which will depend on the browser you are using).

Your son / daughter's image and information will be securely stored on a firewall protected computer with password access restricted to the FaceMatchTeam.

Your information will not be transferred from Australian servers.

You have the right to access any personal information which FaceMatch holds about you, subject to the exceptions in the Privacy Act 1988 (Cth). You may also request the correction of information that is inaccurate.

Parents, guardians and doctors are invited to participate in the FaceMatch Project by submitting images of their children / patients with an intellectual disability.

To continually improve the face matching algorithm for diagnosis, the FaceMatch Project will also accept photographs from children / adults with a confirmed diagnosis.

Parents and doctors can provide medical and genetic information.

After creating an account, your nominated clinical geneticist/doctor can access your son/daughter’s profile page to add or update clinical or genetic information.


Doctor-only participation

Some parents or guardians may prefer not to be directly involved in the project, but consent for their doctor to provide information and photographs of their son/ daughter on their behalf.

The doctor will be required to create a FaceMatch project account and print the information and consent form for the parent / guardian to read and sign.

The doctor is unable to enter any information about their patient without uploading the signed consent form.

Thank you for your interest in FaceMatch.

Participation is open to parents or guardians of:

  1. Children (or adults) with moderate to severe intellectual disability who remain undiagnosed following review by a clinical geneticist or,
  2. Children (or adults) who have a known genetic cause for their intellectual disability.

How does FaceMatch work?

Step 1

Parents/Guardians

After completing the FaceMatch parent registration, you will be asked to provide the email address of your child's clinical geneticist/medical specialist.

The FaceMatch Project will send an invitation to your nominated doctor asking them to take part in the project.

Your doctor will receive information about FaceMatch via email, but there is an optional letter in the resource section which you may choose to show to your doctor as well.

Preview of Paren / Guardian Information and Consent Sheet.


Step 2

Doctors

Your nominated doctor is required to accept the invitation and provide additional medical and genetic information on your child's profile page. The content of your child’s profile page can be viewed by both the parent/guardian and doctor.


Step 3

Face-Matching

Once the parent and doctor have completed the child profile page, all new images are matched against images stored within the secure FaceMatch photo database.

The chance of finding a facial match will increase over time, as more parents enrol their diagnosed and undiagnosed children.

We encourage parents to provide additional photographs as a child grows older. High-probability facial matches are monitored by the FaceMatch clinical research team.


Step 4

Reporting

The FaceMatch clinical research team will report high-probability facial matches to parents or guardians through their nominated doctor.

If a match is made, the doctor is available to provide ongoing investigation, management and support to parents or guardians.

The FaceMatch Project uses state-of-the-art computer face-matching technology to match the faces of children with syndromic intellectual disability who remain without a molecular diagnosis following genetic testing.

Parents of children with a known genetic diagnosis will also be invited to participate.

The site will allow dual parent-doctor participation which can be initiated by either the parent or the doctor.

When project participation is initiated by the parent, they will be required to nominate an associated clinical geneticist or medical specialist.

When project participation is initiated by the doctor, the parents will be required to complete the FaceMatch parent / guardian consent (preview) before any information about their patient can be entered into the FaceMatch site.

Parents who would like to participate in the project, but would prefer their child’s nominated clinical geneticist / medical specialist enter information into the FaceMatch website on their behalf, can consent to ‘doctor only’ participation (Doctor Registration). In collaboration with participating doctors, the FaceMatch team aim to cluster facial images for the purpose of improving time to diagnosis in children with syndromic intellectual disability and potentially discovering novel ID genes.

Our multidisciplinary project team will continue to improve the face-matching algorithm and incorporate the use of human phenome ontology terms in the matching process.

We encourage clinician researchers to enter variant data into a matchmaker exchange node.

Understanding the genetic and biological pathways is the first step towards developing targeted molecular treatment for this group of children.

 
Meet the FaceMatch Team
 
 
Contact us

Tracy and Jackie are here to support you and answer your questions regarding the FaceMatch Project.

Email:

info@facematch.org.au


Telephone:

+61 2 4985 3100

Postal Address:

Dr Tracy Dudding-Byth
c/o FaceMatch Project
PO Box 84 
Waratah 
NSW 2298, Australia


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