Diagnosing genetic disorders with your smartphone
April 12, 2017 7:14 PM   Subscribe

Facial-recognition software finds a new use: diagnosing genetic disorders Diagnosing diseases from a face alone presents an additional challenge in countries where the majority of the population isn’t of northern European descent, because some facial areas that vary with ethnic background can often overlap with areas that signify a genetic disorder.

Yes, the title is hyperbole. Just read the article.
posted by Michele in California (8 comments total) 10 users marked this as a favorite
So just facial features, right, not skull shape?
posted by gottabefunky at 8:30 PM on April 12, 2017 [1 favorite]

This article has nothing at all to do with phrenology and actually addresses the difficulties of standardizing diagnostic tools across different peoples. It's quite interesting and is a way a cheaper diagnostic tool could be made available in developing countries or isolated areas without specialists. Did you even read it?
posted by fshgrl at 8:36 PM on April 12, 2017 [8 favorites]

My immediate thought was "but what about not white folk!?" And was pleasantly surprised by the response by the app creators and the article.
posted by Grandysaur at 9:17 PM on April 12, 2017 [1 favorite]

the more immediate analogue would be physiognomy, not phrenology, no? (not to suggest that the software has anything to do with scientific racism (or doesn't; i haven't read the article because it made my browser unresponsive when i opened it :/ ))
posted by LeviQayin at 9:33 PM on April 12, 2017

Gottabefunky, certain regions of the genome have been linked to facial measurements, such as the width of the face or the distance between the eyes. Some of these regions contain genes linked to syndromes that affect the face or facial development, and because of their proximity to the disease-causing gene are more likely to be inherited alongside it. Each gene might have a small effect on the face; say, making a forehead slightly broader or making the lip slightly more upturned. An experienced doctor may be able to notice such characteristics if they've seen several cases, but someone unfamiliar with the disease may miss them.
posted by Soliloquy at 12:36 AM on April 13, 2017 [2 favorites]

This is great. It is well known that some genetic disorders are linked to specific facial characteristics. Down syndrome is an obvious common example. It is also an example that makes it clear why making this work independently of racial background might be challenging - it was not without reason that John Down originally referred to children with the syndrome he identified as "mongoloid".

There is someone in my family who has a genetic disorder that mostly expresses as a learning disability which means he will probably need life-long support. He was well into school before this was really recognised, and it took much longer to get an actual diagnosis, and thus the support he needs. Once he had that diagnosis we learned that one of the features of his syndrome is a particular set of facial characteristics. Now we know that we can't unsee it - it's startlingly obvious in even very early baby photos. This diagnostic tool seems very likely to have lead to much earlier diagnosis and therefore much better outcomes for all concerned had it been available.

Even if this can't be made to work for all populations I think it is still a powerful tool.

As a software engineer this development seems so obvious with the clarity of hindsight that, especially in the light of the story above, I'm embarrassed that I didn't think of it myself.
posted by merlynkline at 2:31 AM on April 13, 2017 [6 favorites]

Going grey early may indicate a higher risk of heart problems.
posted by Segundus at 4:56 AM on April 13, 2017 [1 favorite]

Dysmorphology was a great skill set back when genetic centers were few and far apart. A specialist with "good eyes" and a good memory would see multiple families over the course of a career and "discover" new conditions. With the advent of new genetic techniques, clinician-lab interaction become the next step. Frank Greenberg, among others, was invaluable in defining number of genotype-phenotype correlations, inlcuding the mentioned DiGeorge Syndrome, with the able assistance of genetics labs. Now everyone wants to do exome studies by mail...
posted by beaning at 6:31 AM on April 13, 2017 [1 favorite]

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