The Emedgene Corporation enables clinical interpretation of patients’ genomic data within only a few moments. This capability, compared to the current period of hours or even days, allows clinicians to make the correct therapeutic decisions for the unique genetics of the patient.

Einat Metzer, the company’s CEO, and founding partner tells of the development in the field and Emedgene’s contribution: “The last decade has been one of the breakthroughs in the area of genomics, in part by state-funded research in the field and also due to a decline in sequencing costs. There is a huge number of discoveries of a large clinical significance for the patients. The current estimate is that more than 80% of the population bears a unique genetic change that exists in only a small number of other patients. The medical world is undergoing a revolution with the gradual understanding that genetics is a fundamental element in the making of therapeutic decisions. Systems that analyze the unique genetic profile of each one of us will in the future become an integral part of every facet of medicine.”

“Our company,” says Metzer, “provides a decision support system for the performance of diagnostics and treatment of genetic syndromes. Using artificial intelligence technologies, learning algorithms, and revolutionary scientific methods, the platform enables geneticists and clinicians to provide accessibility to advanced genetic medicine at treatment points and helps to bridge the gap between current scientific knowledge and practical possibilities in the clinic.”

“It is true that we can sequence an entire genome at a significantly lower cost than in the past. However, the clinical interpretation of the patients’ genetic data is still largely unknown. The clinical description constitutes a bottleneck in the capability to improve accessibility to advanced genetic medicine. To date, there are only a few hundred genetic experts in the United States who possess the expertise and knowledge necessary to perform clinical interpretation. The process requires knowledge in a significant number of disciplines, and consideration of hundreds of facts from dozens of information sources.”

“Emedgene’s system simulates the genetic expert’s decision-making process and identifies with high accuracy those genetic changes suspected of causing disease. Furthermore, it also increases accessibility to the scientific and clinical references that support the decision. This system has dramatically shortened the diagnostic process from a geneticist’s entire working week in a laboratory to a few short minutes for a clinical geneticist or clinician at the point of treatment. Computerized clinical interpretation is a new category that is almost entirely devoid of competitors – clinical interpretation using a computer.”

The company recently won a tender of the Ministry of Health and was chosen to provide advanced genetic solutions for the entire country. “Israel is a wonderful place to conduct such an enterprise,” says Metzer, “among others, because of its unique demography that includes such a wide genetic variety, its advanced health services, its health system’s sophisticated IT infrastructure, and the unique structure of its medical services. The data, experience, and the case studies accumulated within the framework of the enterprise will assist the company in positioning itself as the field’s international pioneer.”

“There is great importance to the Israel Innovation Authority’s choice of this area as the focus of particular attention. Israel has the potential to be an international leader in this field by virtue of its academic leadership in bioinformatics, molecular biology, and genetics, in addition to its advanced level of medicine. If we succeed in diverting sources of finance to the field, it will be possible to establish Israel as the center of an entire industry.”