What is the Pediatrician View?
The Pediatrician View enables a clinician to assess the likelihood that a patient may benefit from further testing to uncover possible underlying genetic conditions.
The Facial D-Score provides 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.
How to use the D-score?
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.
During the Beta stage, the magnitude of similarities is not calibrated and does not allow comparison between the different algorithms in Face2Gene.
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.
Are the D-Score results based only of the photo?
Yes, the last facial frontal photo uploaded will be the one being analyzed. A thumbnail will show you the photo being analyzed. At any time, you can change the photo to review the analysis of a second photo. The D-Score does not take into consideration other annotated features or clinical traits. The analysis provided in the RARE tab, does so.
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.
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