The lack of tools to enable meaningful recognition and understanding of clinical symptoms is causing a failure to successfully and promptly diagnose rare diseases, a category of diseases with more patients globally than all cancers combined. Boston-based digital health innovator, FDNA, saw this as an opportunity to make a difference by generating unique genomic insights through artificial intelligence (A.I.).

According to CEO Dekel Gelbman, FDNA’s goal is to advance precision medicine solutions for rare diseases, including supporting development of precision diagnostics, enabling deployment of precision therapeutics and empowering research and drug development in the rare disease space.

“There are thousands of rare diseases with overlapping symptoms and underlying genetics, so advancement in research and development can only be achieved by having comprehensive, deep and accurate patient data and analysing that data with advanced technologies, like A.I. and Machine Learning (ML). This is the way FDNA extracts insights that otherwise would have gone unnoticed,” he explained.

The company noticed that in recent years the focus within the field of genomics had been around gene sequencing technologies, with few advancements happening in phenotyping. Gelbman continued, “You can’t interpret or understand genetics without linking the data from genome sequencing (genotyping) to the clinical manifestation or expression of the genome, and that’s phenotyping – the science of capturing, recording and analysing clinical observations in a scalable and objective way.”

It started back in 2014 with the launch of the clinical utility, Face2Gene, a genetic search and reference application for doctors. Using computer vision algorithms that recognise facial patterns with greater accuracy than the human eye, the system learned to distinguish between the fine grain details of facial traits correlated to disease.

The uptake of Face2Gene was rapid, “with an estimated 60-70% of clinical geneticists currently using the system worldwide,” said Gelbman. Clinicians feed the system photos and clinical features from undiagnosed patients in real time to produce a list of syndromes, symptoms and genes that are presented to them, based on clinical relevance. After an overwhelming response, the company was quick to launch an updated platform in 2016, the Face2Gene Suite. This acts as an end-to-end clinical data repository with a full suite of phenotyping applications for clinicians, labs and researchers.

The clinical data repository and phenotyping platform “has been used predominantly within North America and Western Europe, with fast growth in other areas like the Asia Pacific, Eastern Europe, Middle East and Africa, and Latin America,” noted Gelbman.

“Simply put,” explained Gelbman, “We analysed the whole value chain and developed phenotyping applications for every use case needed. Clinicians needed to analyse patient phenotypes to find relevant syndromes. Labs needed the patient phenotypes to interpret molecular test results. Researchers needed cohorts with specific phenotypes to make discoveries, and so on. Because these use cases were so inter-connected, we decided to build all the applications as a suite on the same back end, Face2Gene Suite.”

“One of the key components of this platform is the ability of the community to share cases and consult with each other, hence we have developed and created Face2Gene FORUMS,” Gelbman added.

This interconnection between clinicians allows them to share any challenging cases into a forum with peers to gain insightful responses.

“Diagnostic journey’s that have lasted years can end because another clinician from the other side of the world has seen a similar patient,” said Gelbman. “It brings them together very closely and tightly. I think this is one of our most exciting applications when you see the value that both clinicians and patients, who are those we are really trying to help here, receive from this.”

The platform can be accessed by healthcare providers free of charge, further bridging the gap between genomics and the mainstream. Gelbman claimed that the main driver of their work is precision medicine and the company is currently working with numerous drug developers on applications related to clinical trial recruitment, feasibility studies, market research and more.

The success of precision medicine is imperative to the future of these patients and clinicians who, until now, have lacked advanced tools to help them. The fact that clinicians now have a system that allows them to record and analyse phenotypes in an objective way, and then use that data to streamline and improve genetic sequencing and research is a game-changer that will take clinical genetics well beyond its traditional role; and establish clinical genetics as a key role for multiple clinical practices that can benefit from a deeper understanding of human genetics.

This year, 2017, marks FDNA’s year of discovery. Through efforts associated with R&D, the company has started to work with a number of different groups, including drug developers, bioinformatics, patient advocacies and laboratories.

“We are starting to see the fruits of these collaborations, new insights and discoveries,” commented Gelbman. “From our perspective, we have a lot of know-how about the known syndromes, but it is now time to help discover the unknown syndromes and access those remote locations that don’t necessarily have advanced genetic services.” FDNA is aiming to bring exactly that to developing nations in Africa and Asia Pacific.

“Gathering precise data of the rates of undiagnosed patients in these areas is hard to obtain, and our conversations with both patients and clinicians there reveals a lack of awareness, education and resources for rare diseases,” commented Gelbman.

“It is a problem that is so acute, even in the developed world. With our tools, we will be saving tens of millions of patients by accelerating diagnostics, therapeutics and research globally.”

“The bottom line is, we want to save hundreds of millions of people’s lives, and we want to improve their quality of life, that is what’s driving us,” he concluded.