What is the facial D-Score?
Facial D-Score enables clinicians to receive a guideline about the level of facial dysmorphology a patient may have. This score can support the decision of referring the patient to genetic diagnostic workup.
A higher D-Score means a greater possibility of dysmorphic features present in your patient’s photo. The result can suggest if a genetic consultation is likely to be helpful or not.
How was the D-Score developed?
Based on two previously published algorithms, DeepGestalt (Nature Medicine) and GestaltMatcher (Nature Genetics), we built descriptors to differentiate between 2 classes of frontal facial photos: images of patients diagnosed with a rare genetic disease and presenting facial dysmorphology, and an equivalently sampled second class of images of unaffected individuals. The tool currently supports pediatric-aged patients, mostly of Caucasian ethnicity.
While more details will soon be published, you can read how this was used in a preliminary study. Current availability: web app and mobile iOS app.
How to use the D-score?
Currently D-score is available in Face2Gene web version as well as mobile iOS.
After taking a photo of your patient’s face with the Face2Gene app, the algorithms convert the image into a de-identified vector and then calculates a normalized score called the facial D-Score. A higher D-Score means a greater possibility of dysmorphic features present in your patient’s photo.
How to explain this to parents?
There are unique facial patterns that can suggest an underlying genetic cause. Taking a photo and having Face2Gene analyze it can evaluate such facial patterns. The result can suggest if a genetic consultation is likely to be helpful.
Would you like to know more? Please contact us at firstname.lastname@example.org