As new technologies power the drive to achieve personalised health care, doctors may find it difficult to keep up with the pace of discovery.

One institution, in particular, feeling the strain, given its capacity and the large population served, is the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital in the United Kingdom. “Over the last few years, clinical geneticists have had to deal with a huge increase in their workload,” explains Dr. Sofia Douzgou, Honorary Lecturer in Medical Genetics at The University of Manchester. “The introduction of new genomic technologies and interpretation of the results produces an incredible amount of data we must sift through to make sure we provide appropriate and personalised care to our patients.”

Dr. Douzgou and her colleague Prof. Jill Clayton-Smith decided to collaborate with Boston-based FDNA, whose digital health platform Face2Gene is being used in 130 countries to analyse patient faces and phenotypic data to help doctors as they evaluate patients. Face2Gene uses next-generation phenotyping (NGP) technologies to capture and integrate physiological data—such as facial analysis data—into clinical and molecular interpretation workflows to highlight gene variants and diseases that may be correlated to the patient’s phenotype.

As part of the collaboration, the Manchester Centre has been named as an FDNA Center of Research Excellence and will analyse and report on the impact the platform has on clinical workflow, as well as pursue advancements in disease research through analysis of appropriately genotyped, de-identified patient data in the system.

“We have recently introduced the software provided by FDNA into our standard clinical practice,” says Dr. Douzgou. “With the families’ consent, we already have included 50 patients in our database and we will audit this process to test how it may improve our standard diagnostic practice. This is the introduction of a new tool into our practice that facilitates access to possible differential diagnoses of very rare disorders through a very user-friendly system.”

According to the press release:

Genetic variations result in changes to a person’s phenotype in ways that technologies—like Face2Gene—can detect,” said Prof. Jill Clayton-Smith. “Early detection could mean increased access by patients to life-improving therapy, and access for researchers to developing precision medicine.”

A patient’s phenotype is vital to understanding their genetics. While every person has genetic variations and errors – many of which are known to cause disease – such genes are not always expressed or result in related health issues. Next-generation phenotyping technology looks at the expression of genetics, often measureable in biometrics such as facial analysis, to see which genes are actually being expressed. The result increases the ability of clinicians to be able to predict what syndromes or genes to test for, as well as increases the ability to interpret the genetic test results in light of the phenotype.

Given the increasing understanding of genetics in all types of diseases, those at the centre recognize that the tools and knowledge from clinical genetics will one day need to be accessible to every healthcare specialty. “We deal mostly with rare disorders, so to collect a cohort you need to have a definitive diagnosis for a number of patients,” notes Dr. Douzgou. “I am expecting this type of technology to become available to all healthcare professionals in a few years’ time. This means as consultants in clinical genetics, we have a responsibility in mainstreaming.”

The implementation of this technology doesn’t mean that all problems are solved, however; this is just the first step in the wider mission of mainstreaming genomics into the clinic.

“We must also educate other professionals on how to use these technologies, as well as how to interpret results. I am expecting that our field in clinical genetics will change greatly, and rapidly. But, this is one of the best parts of our job; part of our speciality is to accommodate fast-paced technologies. Thinking how to possibly facilitate a responsible clinician in their everyday practice is also very important at this stage,” Dr. Douzgou says.

It’s always exciting to see new technologies being rolled out to new institutions, but none more so than when the lasting impact will contribute to a much wider effort within the clinic. We are excited to see what things are to come for the Manchester Centre for Genomic Medicine, so stay tuned!