Software Scans Family Photographs To Detect Genetic Disorders

Software Scans Family Photographs To Detect Genetic Disorders

This new computer program can use a digital picture to help diagnose rare disorders.

Tiffany Nesbit
  • 30 june 2014

According to New Scientist, 6 percent of all people in the world are thought to have rare genetic disorders. In first world countries genetic testing is available for some of the more common ones, like Down Syndrome; but the rarer disorders require a visit with a geneticist that is trained to make diagnoses based on pronounced facial features. Regrettably, there are very few people who are trained to do this, and for many that means they might never get an accurate diagnosis. Due to the hard work of a group of scientists at the University of Oxford, these life-changing analyses will soon be more available.

Christoffer Nellåker and Andrew Zisserman oversaw a team at the University of Oxford and together have created a new software that is capable of changing the future of healthcare. Using this technology, computers are able to analyze digital photographs and compare them to publicly available photos of people with genetic disorders. This helped the computer to learn to identify conditions based off factors like the shape and size of eyes, eyebrows, lips, and noses. This testing revealed that 93 percent of all predictions were accurate.


Initially, computers were fed 1363 images of people with eight different genetic disorders, each of which was represented by 100 to 283 images, but those numbers have increased. Currently, the software is able to identify 90 different rare genetic disorders, and the database contains 2754 images of people with these disorders. While the system can not definitely make a diagnosis, studies have shown that the program makes it 30 times more likely that a correct diagnosis will be determined compared to a clinician alone.

As beneficial as this software could be for people in first world countries, its impact will be much greater in developing countries without access to doctors and medical supplies. A photo could be taken on a smartphone and sent to a computer halfway across the world, resulting in a prompt diagnosis.

Nellåker is hoping to train the algorithm to analyze frontal as well as profile pictures. In addition, he hopes to pair the system with DNA analyzing programs so that facial and genetic features of disorders can be evaluated together. Regardless of whether or not those ideas ever come to fruition, it’s clear that this software marks the beginning of more accessible genetic diagnoses, which in turn should lead to better treatment.

University of Oxford

[h/t] Gizmodo, New Scientist


Machine Printer Uses Coffee Drips To Create Intricate Portraits

Arts & Culture
Technology december 2, 2016

Why Nest Doesn't Get The Holidays

PSFK founder reacts to the damaging effects of poor email marketing

Children december 2, 2016

Robots Could Be Joining Dubai’s Police Force In 2017

The real-life RoboCops can salute, shake hands and collect traffic fines


Get PSFK's Related Report: Future of Automotive

See All
Travel december 2, 2016

Parka Hides And Charges Portable Devices

Bolt is a jacket that lets people carry and charge their various electronics without the need for an outlet

Related Expert

Steve Dennis

Marketing Consultant

Food december 2, 2016

Yelp's New 'Yelfie' Feature Lets Diners Take Selfies

The update is designed to encourage people to attach a selfie when they share their experiences

Design & Architecture december 2, 2016

Build Your Own Savory Cheese Advent Calendar

A British food blogger has created a guide to building a different kind of holiday surprise

Fitness & Sport december 2, 2016

Floating Gym Concept In Paris Is Powered By Your Workout

The proposed design from Carlo Ratti Associati lets passengers ride a stationary bike as they travel through Paris along the Seine River


Future Of Retail 2017
Transformation Strategies For Customer-First Business

PSFK Op-Ed november 22, 2016

Digital Strategist: Why “Big Sensing” Is Key To Retail’s Future

Bud Caddell, Founder of NOBL, shares why the most capable and useful asset in any retail environment is the workforce

PSFK Labs december 1, 2016

Retail Spotlight: Home Depot Reimagines How Employees Conduct Tasks

The home improvement retailer puts the customer first by initiating local fulfillment centers and simplifying freight-to-shelf inventory management

Syndicated december 2, 2016

What Does The Future Of Android Look Like In A World With The Pixel?

Google’s decision to make its own phone might have looked like a blow to the likes of Samsung but the reality is much more interesting

Retail december 2, 2016

Customer Service Expert: Why Offline Retail Has Better Data Than Online Retail

Healey Cypher, Founder and CEO of Oak Labs, shares why we should be thinking about the physical store as an e-commerce site

Fashion december 2, 2016

Alexander McQueen Designs A 3D-Printed Umbrella

3D-printed fashion arrives in time for the winter season

Work december 2, 2016

Why Training Associates To Be Advocates Is Key To Retail Success

In our Future of Retail 2017 report, PSFK Labs discusses strategies to prioritize customer service, which begins with associate advocates

Media & Publishing december 2, 2016

Netflix Creates Binge Candle To Celebrate A New Season Of Gilmore Girls

The streaming service developed a special layered candle that creates candle with episode-specific smells


Future Of Work
Cultivating The Next Generation Of Leaders

Arts & Culture december 2, 2016

Interactive Film Tells A Story About Living With Cancer

A moving song written by a father of a cancer patient comes alive in a 3D environment

Automotive december 2, 2016

Audi And LEGO Exhibit Autonomous Vehicle Installation

The installation at Design Miami explores the 25th hour, which represents bonus productive work or play time

No search results found.