Empowering doctors in rare disease diagnosis

One question we are often asked at Mendelian is what our technological ‘endgame’ is, or whether our tools will make doctors irrelevant in rare disease diagnoses. It is always a tricky question to answer, because we are certainly just scratching the surface of what technology can do to accelerate any diagnosis, and rare diseases are no exception. However, we built Mendelian based on demand from clinicians at the forefront of rare disease diagnosis, and aim to complement and accelerate their work.

For this reason, the issue of “replacement” is rarely voiced by doctors: asking doctors whether they fear a powerful search engine in rare diseases would be like asking them if they fear a faster thermometer. Doctors are too busy diagnosing real patients, so effective tools that expedite the process are a benefit. Rather, what they want to know before using Mendelian is whether or not it works. What we’ve found, after a year since we went public with our app, is that apart from a minority of doctors that are constantly on the lookout for innovations for their patients, most doctors need proof of effectiveness at scale in order to compete with their current habits and practices.

Our motto: accelerate rare disease diagnosis with accurate data

We founded Mendelian to accelerate the diagnosis of rare diseases. We saw a data problem which we could solve, with information about rare diseases being fundamentally scattered, disorganised and constantly evolving, even before knowing what burden the information scatter was to professionals, patients and family (the ‘diagnosis odyssey’). Today, Mendelian is already an ally to professionals that must diagnose difficult rare diseases, and tomorrow Mendelian will be an enabling technology, flagging patients in real-time as symptoms appear and guiding them through the most effective (in terms of time and cost) path to diagnosis.

Which brings us back to the question doctors have when they discover Mendelian: ‘does it work?’. Mendelian is not quite the thermometer in our earlier example, a medical device or a diagnostic tool. Rather, Mendelian is a search tool: an aggregator of knowledge curated through usage and shared case outcomes, so that one physician’s work can help improve another’s. We are constantly collating information from dozens of sources which physicians can regularly tap into during their daily practice when they have the time.

Mendelian engine performance

We recently had the opportunity to measure ourselves against standard practice. What would be a doctor’s ideal aid, after hours of research and questions to peers and colleagues, when they are struggling to diagnose a case? Especially in the case of rare diseases, the road to diagnosis consumes a lot of resources: doctors ask doctors and, in some cases, the hardest cases are referred to a board of specialist clinicians that regularly meet for this purpose. These experts each have accumulated priceless experience through their work, yet their prevailing commitments lend little time for enough meetings to deal with the incoming rare disease load. Ideally, that’s where we’ll be.

We’ll be the alternative resource that can help any clinician receive the answers that only such an expert panel could provide, available 24/7. We also hope to be used even by those expert panels, allowing them to evaluate an increased amount of patients per session.

We are glad to see that our preliminary benchmarking work shows we are going in the right direction. You can read how the Mendelian engine approaches human accuracy in gene prioritisation in our white paper

What is next for Mendelian?

Already in use by doctors, Mendelian’s internal monitors show that our team is on the right track as our effectiveness grows. However, we would not have been able to kickstart our project without the work of platform visionaries and the thousands of physicians and researchers that have been documenting their findings for decades in the various databases we now use. Entrepreneurs like us are often innovators, but innovators can only be so because they stand on the shoulders of the scientists and inventors that came before them.

Technology is now allowing us to kickstart a digital evolution in healthcare. It is massively increasing access to knowledge, alleviating bottlenecks in the health systems and preventing human error. When access to expert-level clinical guidance becomes a split-second task, why not review all rare disease cases, rather than just the most difficult to crack? What if that gets coupled with affordable whole genome sequencing? How will faster treatment affect patient’s lives, particularly in those conditions where treatment is time-critical? It is impossible to predict the speed at which these changes will take place, but the very fact that we are asking those questions is already a sign of the exciting times we live.

At Mendelian we spend the days coding, tracking platform usage, encouraging willing doctors to use our tool and pitching to investors, but, every now and then, we meet a rare disease patient who tells us the story of their struggle to get to a diagnosis. Rare disease patients are humbling, living with their daily conditions with a dignity and strength that make our petty matters of everyday life look irrelevant. They are also curious, and want to know what we are contributing to their rare disease community. Most importantly, they’re understanding. We may be tempted to downplay what we do, as its one part of the journey towards a diagnosis, but they make our day when they’re encouraged by Mendelian’s role and realise the potential impact technology will have on rare disease patient’s lives.

So here we are, at the beginning of our journey. There’s a wealth of information out there about rare diseases, and it’s no small feat to amalgamate, update and disseminate it across the world. Yet there are 350+ million rare disease patients who inspire us to be understanding, curious, and resilient in turn: comprehending the vast number of illnesses that exist, curious of the developments, theories and treatments evolving each day, and resilient in the processes. Join us on our journey as we attempt to make a difference to theirs.

You can read how the Mendelian engine approaches human accuracy in gene prioritisation by downloading our white paper below.

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