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Feb 2023

Navigating the diagnostic odyssey: a conversation with Nostos Genomics’ co-founders

Diagnosing rare genetic diseases is complex and pressing, affecting hundreds of millions worldwide. With over 7,000 unique diseases, patients are often led on a diagnostic odyssey that can take up to a decade to reach a conclusion. The process of genetic disease diagnosis consists of three steps: testing, diagnosis, and treatment. While advancements in DNA sequencing have led to a decline in costs and the availability of more tests, the real bottleneck lies in the interpretation of the vast amounts of data generated during the testing process. Today, I am sitting down with David Gorgan and Rocío Acuña-Hidalgo, co-founders of Nostos Genomics. We’ll discuss the story behind Nostos Genomics, their drive to help patients with rare genetic diseases, and their outlook on the future.

The human side of rare disease diagnosis: our background story

David Gorgan and Rocío Acuña-Hidalgo met in 2018 through a programme called Entrepreneur First. They bonded over a shared passion for solving problems in healthcare using technology, with a particular interest in using machine learning to diagnose rare diseases. 

“My interest in healthcare even goes back to the obligatory military service I did in Switzerland – where I trained as a medic. The drive to help more people with rare genetic diseases receive a diagnosis is personal, as, around the time I met Rocío, someone I knew was suffering symptoms of a then undiagnosed rare disease. In fact, Rocío was the first person to suggest that this may be a genetic disease. After that, it took many years of speaking to physicians before a diagnosis was reached. This made me acutely aware of the challenges patients and their families face when receiving an accurate and timely diagnosis for rare diseases,” David explains.

During their time in the Entrepreneur First program, David and Rocío decided to focus on the bottleneck in the interpretation and analysis of genetic testing results, which led them to found Nostos Genomics. 

In Greek mythology, nostos refers to the homecoming of an epic hero – like Odysseus in the odyssey. This is not a mere physical homecoming, but also a metaphorical one. We are called Nostos because of this journey patients of rare genetic diseases embark on as heroes, facing so many unknowns and often setbacks along the way. In a way, receiving a rare disease diagnosis is a homecoming, as it marks the end of their often long diagnostic odyssey.

The diagnostic odyssey refers to this long and challenging journey patients and their families must go through to obtain a correct diagnosis. It can involve multiple misdiagnoses, incorrect treatments, and a great deal of frustration and anxiety. Many rare genetic diseases are caused by mutations in a single gene, and these mutations can be difficult to identify. Traditional diagnostic methods may not be able to detect these mutations, and it can take years of testing and consultations with various specialists before a diagnosis is made. In the meantime, patients may suffer from difficult-to-manage symptoms and may face additional social and financial challenges. Genetic testing and data analysis advances have made it easier to identify genetic mutations, but many patients still face significant challenges in obtaining an accurate diagnosis for their rare disease.

Like David, Rocío also has personal experiences with the burden the long diagnostic odyssey can put on patients.

“During my PhD, I was lucky enough to be at the right place at the right time, as I was in Nijmegen, at the time one of the first places where sequencing technologies and whole exome sequencing were started to be used as routine diagnostic tests. Through this new use of technologies, I was trying to answer questions that weren’t possible before – because we didn’t have the tools. I spent quite a lot of time trying to find new genes associated with diseases and linking mutations we weren’t able to see before to diseases. Because of the close collaboration between diagnostics and research at my institute, we were lucky to have access to many samples from patients with rare diseases. I was working on a disease called Schinzel Giedion Syndrome, and the hospital I worked at became a sort of reference centre for this disease,” Rocío adds.

“Through my work, I started to get in touch with patients, and started to receive emails from parents of patients that had this disease, and had loads of questions. As I was working, I tried to understand what our results meant for patients and what kinds of answers and prognoses we could give them. I got engaged with what I’d call ‘the human side’ of what happens. Diagnosing a disease is the first step. And while essential, this opens a whole new bag of questions: what happens now? Indirectly, this helped me gain a lot of understanding for the diagnostic process and the issues patients face.”

Our mission to provide genetic answers and bridge the gap

Two different backgrounds - but a shared mission: providing patients with a genetic disease the tools they need to make informed health decisions. With the advent of cheaper sequencing technologies, we want to make the diagnosis of genetic diseases more accessible and affordable. Rocío: “Often, providing people with a diagnosis is technologically possible. But there’s a big gap between what is possible and what is happening in reality. And as a geneticist and a medical doctor, this is incredibly frustrating and completely unfair towards the patient. Having to live your life without having the answers to something that is profoundly impacting your life daily. Our mission is to bridge this gap and provide answers that can guide people to make informed decisions. We want to make the best technology available so people can live fulfilling lives.”

While these diseases are individually rare, collectively, they are not. More than 7,000 rare diseases affect 400 million people around the world. Clinical genetic testing is a labour-intensive process involving sifting through millions of variants, or changes in a person’s DNA, to identify the variants relevant to the patient’s disease. This process requires an analyst to use a set of guidelines to classify each variant as “disease-causing”, “uncertain significance”, or “benign”. However, due to the limited availability of data, human error, and the time constraints of the lab analyst, only 30% of patients receive a definitive diagnosis. The remaining cases are inconclusive, with most variants classified as so-called VUS, variants of uncertain significance. This presents a significant gap in the ability to diagnose patients and provide them with the necessary treatments.

David: “In my experience, patients with rare hereditary diseases tend to get overlooked by the health system or even by society in general. An important first step is to highlight the issues these patients have. When we look at Germany, an estimated 3 to 5 million people are affected. This is roughly the size of Berlin, our capital! This puts into perspective just how many people we are talking about. Importantly, we want to empower these variant scientists working on complex cases to make more diagnoses.”

A paradigm shift: the future of rare disease diagnostics and treatment

Genetics and genetic testing is a field that is changing rapidly. Not only in terms of science but also commercially – the market has an estimated annual growth rate of 13.94% from 2022 to 2030. The decline in sequencing costs resulted in a rising demand for testing, fueled by the continuous new developments when it comes to, for example, identifying novel mutations. 

David explains, “for us, a first step would be to make our technology available everywhere. We’re still early in our journey – and as a Berlin-based company we’ve focused primarily on on Europe until now. But, we’re eyeing the US next. Of course, we want to make sure that everybody can benefit from the type of analysis that AION, our platform, offers. When we spoke about the mission, we didn’t limit ourselves to providing a diagnosis. As we’ve mentioned earlier, we know that many questions need answers after you get the diagnosis. What treatment fits the best, or what other patient groups could people get connected with?”

Rocío adds: “Absolutely – oncology is often at the forefront of new developments in healthcare as it’s the biggest field in genetic testing, and one exciting development we see there now is ‘companion diagnostics’, essentially patient matching to specific treatments based on what the genetic test tells you. Thinking about this in the context of rare diseases would be quite interesting. Having many treatments available for rare genetic diseases is a complete paradigm shift and was unthinkable just ten or twenty years ago. And as more treatments become available, matching patients to the best specific type will be really interesting. Similarly, I recently read a paper on the impact of genetic diagnosis on epilepsy. In roughly 40% of cases, the results of genetic tests directly impacted the type of treatment received. The fact that this is already happening today opens a wide universe of opportunities. When it comes to technology, too, what’s currently happening in the long-read sequencing field is interesting. This will uncover many genetic variations we currently don’t have the right tools to see. Of course, this will make the problem more complex, but it will also solve many questions we can’t even begin to answer now because we don’t have the tools.”

One thing is sure. All these new developments will impact the daily lives of rare disease patients; Rocío continues: “there are so many new treatments in development that are about to hit the market, and this will be a total paradigm shift. When I started studying medicine about twenty years ago, so many rare genetic diseases were still ’a sentence’ in a way: because we didn’t know what caused them, we didn’t know how to treat them, and there was little to offer to our patients. The amount of treatments made available in the last ten to fifteen years makes it feel like a moment of inflection. Not to be dramatic, but it feels a bit like the introduction of antibiotics almost 100 years ago: it allows for an entirely new way of thinking about diseases and how we treat them.”

David adds: “It’s hard to top what Rocío just said. Looking at it from a perspective on what we see in the short-read sequencing market, so many exciting things are happening. Over the past year, competition for sequencing machines has increased massively and has finally kicked off a further decrease in the cost per sequenced genome. This shows huge potential for accessibility and democratization in genetic testing. In addition, we’ve been noticing a rapid shift towards whole genome sequencing in Europe, probably accelerated by the recent cost reductions. It’s not the newest, most exciting technology, but the wider application now helps us analyze more of the genome and learn more from these larger amounts of data. And our software AION happens to be one of the first solutions fully ready for this shift. Hopefully, this loop of better tech and more data collection will accelerate research into rare genetic diseases and their treatments.”

So, there are promising new therapies on the horizon. However, these therapies rely on a genetic diagnosis, and with only 30% of patients receiving a diagnosis, there’s still work to be done. I thank David and Rocío for taking the time to sit down and discuss these critical developments with me!

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