Genoox Enables Precision Medicine Through Analyzing Genetic Data

In the Hippocratic corpus “Of the Epidemics” Book 1 it states, “Practice two things in your dealings with disease: either help or do not harm the patient.” Genoox, a company whose main mission is to be able to provide meaningful and actionable insights using genetic data is helping to revolutionize precision medicine, by targeting diseases in a very specific and personal way.

In an interview with NoCamels, Genoox‘s Head of Product Assaf Shefer explains that the startup was established in 2014 and is working in the developing genomics field. Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.

“The company provides software for several medical institutions – both in Israel and overseas – to analyze the genetic data of their patients, and try and provide more precise care to patients,” he says.

“We are conducting more tests than ever before,” Shefer continues, “for example, if a patient has cancer then they are often given a general cancer treatment. However, with genetic input, we can give exact medicine for the type of cancer from which they are suffering. People are using it more and more in the real world. Patients are increasingly being sequenced, which provides a very comprehensive overview”

Genoox has designed a repository of information called “Franklin,” named after the English Jewish chemist and X-ray crystallographer Rosalind Franklin, whose work was instrumental in understanding the molecular structures of DNA and RNA. “The idea of Franklin is to improve genetic data files,” Shefer explains. “One of the most complex aspects of medicine is to be able to do the diagnostic part as accurately as possible. For example, if a patient is diagnosed with lung cancer, a biopsy is sent to the hospital lab and by utilizing Franklin it is possible to take different parts of the DNA and then find mutations of the variants. Even more crucially, we can find out which ones are the most relevant, and then the treatment can be personalized to that person’s specific genetic makeup.”

With more than five million potential mutations, there is a need to review an exceptionally large amount of data, which requires the use of artificial intelligence, machine learning, and algorithms to determine which is the most relevant and can then be used to target a patient’s care.

“Franklin is the largest clinical genetics community,” Shefer reveals. “At the moment, genomics is a little bit like investigating space in that our knowledge level at the moment is quite low, we know much less than we don’t understand. However, by building a community and through sharing data, it provides more interesting insights. Franklin is currently stored in more than 1700 healthcare organizations in over 44 countries, and there is already strong evidence that can help solve what might previously have been thought to be an ‘unsolvable’ case.”

In allowing the sharing of information across the world, Franklin can help medical practitioners solve extremely rare cases. Shefer uses the theoretical case of a child with a rare mutation that nobody in the community has encountered and which remains a mystery. “By allowing different bodies to interact with each other they can find out that there’s a similar case somewhere else. They are then able to cross-reference and understand that the mutation is the cause of this ‘x’ condition. Franklin can provide positive consequences in order to more successfully treat patients.”

The technology can also be used in preimplantation genetic diagnosis in the case of family planning. An embryo can be tested before being inserted back into the womb and it is possible to select the embryo that doesn’t have the mutation, enabling genetic data to be known and a decision made about it, rather than it remaining a mystery.

“Genoox’s work is unique because it does not just comprise community members in the lab,” Shefer asserts. “While lab technicians obviously deal with the analysis of specimens sent to the laboratory, Franklin supports the work of a variety of medical professionals, including doctors and geneticists. A doctor can understand what the next step is and share his data. Different people have access to slightly different data; a patient-facing doctor has the most information about the person they are treating.” Indeed, Franklin helps to streamline the day-to-day workflow as the data is integrated on the same platform, which provides a smooth and easy data sharing process.

As with any software – including cloud-based – Genoox takes data privacy and security extremely seriously and asserts that it is fully HIPAA compliant. “The data is aggregated together but there is no breach of patient privacy and there is never any identifying information for a specific patient.”

The ability to provide AI with unique data empowers a fuller solution, which in turn creates better clinical care. With tumor analysis, for example, a doctor could draw several different conclusions. By utilizing the genetic data, it is possible to tell which drugs it is best to use to treat the patients, as well as perhaps equally importantly, those not to use. It is not always possible to tell just by looking at a microscope to determine a good or bad cancer outcome or what the prognostic evidence shows; Franklin allows the removal of some of the guesswork

“Precision medicine is about the option to choose the right treatment, using the right genetic data at the correct time,” Shefer asserts.

Franklin’s potential is not simply theoretical. “We are getting great feedback from doctors who have told us that by using Franklin they have been able to solve cases or come to better decisions about what to do,” says Shefer. “We recently had a case where a person in a lab found a mutation that was yet unknown to the world, although it seemed suspicious. He used Franklin to contact other medical institutions and they were able to find out that there were several different families with this mutation presenting the same symptoms. He was able to solve the case. It has had a tremendous impact with patients. We are getting to the stage in genetics, where the response of ‘we don’t know, come back in five years’ is increasingly becoming a thing of the past.”

Genoox has raised $20 million so far through private VC funding. Most of Israel’s main hospitals including Ichilov in Tel Aviv, Ramban in Haifa and Sheba-Tel Hashomer in Ramat Gan, as well as HMOs Clalit and Maccabi use the firm’s Franklin platform. It is also working with pharmaceutical companies, enabling the use of data to make the most efficient drugs, and how drug design should correctly affect a patient according to their genetic features.

In the future, Shefer sees the possibility that even painkillers will be able to be tailored to a person’s specific genetic makeup. “Each person will be able to get sequenced – perhaps even while they are still in the womb – and their unique genetic data would follow them to different intersections in their lives – and it will likely become one of the major pillars of medical decision-making.”

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