Emedgene, a leading precision medicine intelligence company behind the idea of "cognitive genomic intelligence," is working toward bringing the benefits of transparent and versatile intelligence in the field of genetics.

The world's first "completely automated genetic interpretation platform" has recently announced its partnership with biotech giant Illumina to power its genomic data interpretation and scale up genetic data analysis and possibly, discovery.

READ MORE: Decrease in Rare Genetic Diseases Possible With Emedgene's A.I. Assistance 

To learn more about the startup that could revolutionize both genetics and machine learning, CEO and Co-Founder Einat Metzer is here to walk us through Emedgene's goals and visions:

Q: Good day! As one of Emedgene's co-founders, what made you - together with Niv Mizrahi and Shay Tzur - create the precision medicine intelligence organization that now leads the field? Was there a particular event or problem that set the proverbial wheels in motion? Or was it a culmination of your respective experiences and expertise?

What drove me, all of us, to found Emedgene, was the realization that one day genetic testing would be as ubiquitous as a blood test. We started thinking about what it would take to have our unique genetic data informing healthcare throughout our life, available for clinicians at the point of care. We quickly realized that the world of genetics was tackling sequencing roadblocks, but no one was thinking about genomic data interpretation. A single genome test generates 3GB of data that is painstakingly interpreted by highly skilled experts. Clearly, if we want ubiquitous genomic healthcare, we have to alleviate the interpretation bottleneck. Between us, we had just the right multi-disciplinary team, combining AI, big data and deep genomics expertise to solve that problem. And less than two years later we had a fully functional Cognitive Genomic IntelligenceTM platform operational in some of the top clinical labs in the U.S. 

Q: Based on the company story, Emedgene believes that "genetic medicine will inevitably be the medical standard of care. Can you give us an insight into how genetic data can help guide personalized care?

Genomic data can be used across a continuum of diagnostics, prevention and care throughout a person's life. Let's take, for example, hereditary cancer screening. A recent study found that 1 in 8 cancer patients carries a hereditary genetic variant that might impact care. However, under current guidelines, only about half of those patients are eligible for testing. Wide-spread screening would have a clear benefit for cancer patients and their families. Another example is NICU patients, where rapid genetic testing provides a diagnosis in over 40% of babies, with change in care in 30%. We could easily go through dozens of examples of genetic based healthcare, all showing high diagnostic rates and positive impact on clinical care. I would also like to emphasize that research is ongoing, and we're continuously expanding our ability to diagnose earlier, screen effectively and improve treatment. 

Q: Black box AI has been a computing problem with legal and ethical implications - from offensive social media posts to seemingly biased responses against age or race. In the field at which Emedgene operates, how would transparency in AI development help advance precision medicine's mass-adoption?

At Emedgene, we believe strongly that AI in genomics can't be a black box. At present, AI systems in healthcare are providing decision support. AI systems that will only provide recommendations, without a layer of explainable AI are difficult to evaluate, adopt and use. Without explanations, model biases are extremely challenging to identify. Explainable AI provides the most necessary layer of transparency, enabling an unbiased review of results that is very powerful. We've certainly seen that explainable AI is more easily trusted and adopted, and my hope is these technologies will advance mass adoption.  

Q: Congratulations on your recent collaboration with Illumina. About their TruSight Software Suite, kindly share some details on what Emedgene provided or added to the genetic diseases platform?

Illumina was interested in delivering a best-in-class tertiary analysis tool, which is why they integrated Emedgene's clinical application into the Trusight Software Suite. Trusight users can utilize Emedgene's highly accurate models to automatically identify causative variants. Our explainable AI is also integrated, so every recommendation is fully backed by evidence from publications and databases, saving hours of analysis time. We're extremely enthusiastic about the scale our new partnership with Illumina will enable, and the number of patients that will benefit from a genetic diagnosis.

Q: Studies published last August (in Europe) and September (in Hong Kong) 2020 inquires about the effect of COVID-19 on the rare diseases community. On a related note, is Emedgene working on projects with the intent of addressing the highly-contagious disease?

It's extremely important that patients with rare diseases receive a timely diagnosis, even in these challenging times. We've been supporting our customers in their transition to remote work, and have largely seen the community respond quickly and effectively to changing work conditions, and continue to serve these vulnerable populations. 

One topic we're all interested in, is why some patients experience severe COVID-19, and others don't. The answer may lie in genetic variation, and we're involved in studies that are attempting to elucidate the genetic underpinnings of disease response.   

RELATED ARTICLE: COVID-19 Genetic Sequencing: Can Your Genes Tell You How Likely You'll Catch Coronavirus and How Severe You'll Suffer From Its Symptoms?

Q: Lastly, as one of the leaders behind the company that advanced cognitive genomic intelligence, do you have a message for the youth looking at a career in the sciences, especially in genetics or machine learning?

We're at the very beginning of an era of discovery, driven by advances in sequencing, scientific research and the application of machine learning. There's so much more we can learn at the confluence of biology and artificial intelligence. I would encourage anyone interested in multi-disciplinary and creative thinking to join the field. The satisfaction of knowing your work is positively impacting someone's health is simply unbeatable.