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An ICT decision support system for clinical interpretation of genomic data, used by geneticists to rapidly and accurately pinpoint unique disease-causing variants

Periodic Reporting for period 1 - Emedgene (An ICT decision support system for clinical interpretation of genomic data, used by geneticists to rapidly and accurately pinpoint unique disease-causing variants)

Reporting period: 2018-02-01 to 2018-04-30

Emedgene addresses three main issues. Firstly inefficient Clinical Interpretation(a critical analysis of patient laboratory data in order to assist with clinical decision making) is both a complex and labour-intensive task. There is an increasing volume of genetic sequences, bioinformatics methods, variant and mutation data, and research publications to take account of which makes clinical interpretation a costly area of genetic testing, with limited scalability, long turnaround times and low diagnostic yields. Today it can take about 7 years and 8 different specialists before a correct diagnosis is made. Secondly this is not aided by the difficulty in bridging the gap between genomic data and clinicians: Most clinicians are untrained in genomic medicine and are thereby incapable of effectively interpreting genomic data for the purposes of making a clinical decision creating a shortage of qualified people and long wait lists for patients. This is not just a problem in Europe but worldwide, and effects developing regions much more harshly. Thirdly, there are approximately 350 million people around the world who suffer from a rare disease. With only a third of an estimated 7,000 diseases having clearly established genetic basis, many patients lack correct diagnoses. This impacts available treatment and the management of the condition for patients creating further burden's to their suffering.

Clinical Interpretation remains a costly and labour-intensive task, limiting scale, lengthening turnaround times and achieving lower diagnostic yields. It is becoming the major – and rising – cost in genomic medicine. Meanwhile, sequencing costs continue to fall (from ~€15,000 before 2010 to ~€1,000 in 2015 and expected to fall as low as ~€500 by 2025). Customers using Emedgene’s platform benefit from more advanced technology that achieves better results, and is cost-effective at €100 per test. The ability for Emedgene’s solution to assist in developing regions also allows for them to tap into unserved markets and quickly become the only solution available for diagnosing patients through the analysis of their genetic data. Unfortunately due to the lower available funds in these regions, they are unable to have many, if any geneticists at all. By using Emedgene’s decision support, the small population of trained geneticists will be able to serve larger patients population in developing countries.

The next step to achieve commercialization is a systematic survey of stakeholder’s (customers, users, patients, regulatory bodies, etc.) requirements, expectations, and needs. Using this feedback, the specifications and features of a MVP that suits the customers’ and users’ specific requirements will be determined. A development plan for the software updates will be devised and undertaken. Once the algorithms have been rewritten, compliance tests with necessary regulations and standards will be conducted. The forthcoming pilot trial will validate the effectiveness and claims of the solution.
This study proved instrumental to investigating the market landscape, strengths, as well as meeting requirements, to ensure successful first revenues from the proprietary technology. The Feasibility Study showed that a flexible business model and financial plan was needed to approach the market and achieve higher rates of market penetration. The main achievements reported in the study were:
● The genetic diagnoses markets’ current trends show that the growth will continue as many developed countries incorporate genetic testing as a part of diagnostic testing. This means that the targeted market of select European countries will continue to grow in the future and offer an opportunity at a global market.
● Upon further in-depth market analysis through research and meetings with key market players, we found that the market’s problems and needs aren’t being met by the current technology available, particularly when relying on a clinical geneticist due to the time demands of the process.
● We found that our business model needed to be changed for improved commercial success. As we will be dealing and selling directly to our customer, specific packages may be worked out in the future for bundle purchases and related discounts. Flexibility will be key.
● During our further market research we found the ideal target markets after initial commercialisation in Israel. The new markets we will explore after Israel are Netherlands, UK, Ireland, France, and Germany. These markets are being targeted not only due to the growing usage of eHealth technology in their health systems, but also due to our contacts and strong connections throughout these markets.
● The initial MVP of the Emedgene solution was finalised through stakeholder feedback (customers and users). This resulted in a determination of what remained outstanding to bring the product to market in terms of engineering and design.
● The necessary regulatory and standard requirements were investigated further which allowed us to develop a better understanding on how to bring the Emedgene solution to market. With this we updated the regulations and standards already in place and are in the process of contacting a certification company to assist with the securing of necessary regulations.

Considering the result of the Phase 1 feasibility assessment, it is worthy to follow up with the implementation of an industrialisation and commercialisation plan.
Many competing genetic software solutions still rely on manual curation of information, offer very basic aggregation of data, and provide tools to filter variants. They only provide a basic data analysis tool. where other companies have developed automated interpretation tools they require most of the interpretation work to be done by the geneticist who eventually spends many hours analysing each case and exploring various data sources. Emedgene – which is built on the expertise of world leading geneticists – sets itself ahead of the competition through (1) automated interpretation and (2) clinical decision support. Emedgene mimics the decision-making of genetic experts and automatically pinpoints the few potentially causative mutations for both known and unknown genes. The use of Emedgene’s technology to intelligently mine information increases the availability of data vs. manual curation.

Emedgene’s platform is a cost-effective, sophisticated genomics AI platform bridging the interpretation gap, and thus making interpretation available to most laboratories, hospitals, and other healthcare centres and driving better patient outcomes.

Emedgene is the first AI platform to support genetic decisions. The artificial intelligence algorithms provides stronger decision support to an otherwise highly complex cognitive task. It delivers results with solid evidence and reasoning, along with a clear path to clinical validation. By reducing the human resource and financial burden, Emedgene’s solution is suitable for healthcare centres even where there is very little genetic data interpretation expertise, thus bringing better decision-making capabilities to a larger population. Using the Emedgene platform, a higher diagnostic yield is achieved (over 60% resolution rate vs. under 30% reported in scientific literature). Moreover, the platform can review more tests in less time, reducing the overall cost per test to the lab and increasing accessibility.