Face2Gene is a fascinating app for the genetics geek in all of us. The app allows healthcare providers to take patient photos that are analyzed for specific facial characteristics that could be related to a genetic disorder. Developed by FDNA, a Boston-based company, the technology is called Facial Dysmorphology Novel Analysis. The idea is to upload patient photos which are evaluated by the app for facial features outside normal standard deviations and cross-referenced to a database of genetic conditions which involve these features.

Face2Gene 1

The app is free and designed for use exclusively by healthcare providers. Providers must register in the app and are verified before obtaining full access. While awaiting verification, the user can still build three cases. Verification took less than an hour and reviews the provider’s credentials via email.

Face2Gene 2

The user can upload a photo from Dropbox or their mobile device, as well as taking a photo at the time of use. A case number is assigned by the app while the Case Name is input from the provider. There is a privacy setting that the user may set which defaults to all cases kept private unless the user elects to share them. The app and company website assure users that the app is HIPAA compliant – there is even a detailed HIPAA compliance declaration that describes all the technical and administrative safeguards in place.

Once the photo is uploaded, the app assesses facial features by evaluating a ‘mesh’ of the photo. This provides greater privacy for the user and patient. An analysis of facial features outside typical standard deviations is offered. Further information is available on each dysmorphology. The actual images are stored in a private Case Library only accessible to the uploading physician (unless they choose to share it). FDNA uses the de-identified facial meshes generated from the images and ultimate diagnosis shared by the clinician to train their software over time.

Syndromes that match are also listed for the user, along with links to databases for more information or assistance with potential genetic testing.

Face2Gene 7

A Resource Center that lists all Syndromes and Features evaluated is accessible to users looking for more information on particular conditions. FDNA also offers other services including a forum for input from other genetics specialists and more detailed consultation services.

Users can adjust settings in the app for height and weight units, saving photos, and accessing Dropbox. Apple Users can also enable TouchID for further security.

Face2Gene 10

One downside is the About section refers users back to the website. There’s no information about the app or FNDA and their mission. There is definitely a benefit to viewing the website, particularly for researchers and anyone who might like to collaborate with FNDA.

On the FDNA website, there are several references to studies testing the Face2Gene though most seem to have only been presented as abstracts at various meetings. There is nonetheless some interesting work listed like using Face2Gene to boost the yield of genetic testing or phenotyping genetic syndromes with some overlapping features.

  • Price
    • Free
    • Genetic phenotyping nirvana for syndromes associated with specific facial features
    • Easy to use
    • Significant attention to privacy of patient cases
  • Dislikes
    • Developer info unavailable in the app
    • Narrow application in various medical specialties
  • Overall

    Really fascinating app, but possibly limited to use in tertiary medical centers, though other clinicians may find some application in practice from time to time. This app could get really interesting as more cases are added that help nail down some of the dysmorphic facial features to specific syndromes. FDNA currently seems particularly interested in collaboration and growing the database for scientific reasons.

  • Overall Score
  • User Interface

    Easy to use and navigate without a lot of instruction.

  • Multimedia Usage

    Photos of facial and pathognomic features of various syndromes as well as links to genetic testing resources are available.

  • Price

    Surprising that it’s free, given the potential.

  • Real World Applicability

    Great application for people who see a fair number of geneticallly-linked conditions or possibly in a pediatrics setting, but not really applicable across all practice settings.

  • Device Used For Review

    iPhone 6s and iPad Air 2

  • Available for DownloadAndroidiPhoneiPad