Mendelian FAQ

How does Mendelian work?

It is a search engine, designed to take the user from the phenotype (signs and symptoms of a disease) to the genotype (responsible genes altered). You can also describe Mendelian as an engine to facilitate research into these diseases. As users add all phenotypic data about a condition, Mendelian’s algorithm runs through all the available information about these diseases and their causes from public databases, terminologies, real cases, scientific publications, etc. providing a result ordered by probability.

How can it be used today?

If today a doctor or a genetic laboratory has an undiagnosed case, they can access Mendelian and type in the disease’s phenotypic information to obtain a list of genes that, once sequenced, will potentially give them the diagnosis.

How will it be used in the future?

Mendelian is adding more information related to gene expression, such as biochemical pathways. With its ability to infer relationships, Mendelian hopes to be a source of data with unique information to investigate, among others, the identification of therapeutic targets in diseases that are now orphans.

How many people will it be able to help?

Each rare disease may have a limited population afflicted, but because there are thousands of them, together we are talking about a broad phenomenon which we often underestimate. Even if we discount those that are mild or go unnoticed, as well as those that cause abortion before birth, the number of patients living with a rare disease is overwhelming. Given the complexity of rare diseases, these often take too long to diagnose or go completely undiagnosed. Some papers estimate 300m people globally are affected, and together with family members and care takers (eg. parents, doctors) we are talking of over a billion people hungry for faster diagnoses made possible by Mendelian’s software.

Which public or private entities are supporting Mendelian?

Mendelian is a venture out of the Singularity University (NASA Ames, California) entrepreneurship program, later funded by the founders' capital with the help of family and friends. Initially, Mendelian was also supported by the start-up aid program of Imperial College London. Also, some hospitals have unselfishly assisted Mendelian by testing the tool and providing the feedback necessary for improvement in the initial stages. The early contributors are world renown institutions in Spain, the United Kingdom and the United States.

Which countries is Mendelian used in?

Mendelian has its key co-developments agreements in Europe and the United States but, being online and free, we have tracked users from 133 countries just six months after launch.

Who is Mendelian’s typical user?

A geneticist or a specialist in rare diseases (neurologist, paediatrician, internist) although one of Mendelian's missions is to make it easier for the diagnosis to begin with the family GP.

Does it replace a medical consultation? Once used, what should these people do?

Mendelian does not substitute a medical consultation. Mendelian is a support tool for the clinician, to allow him to focus on diseases that may not have been considered yet in the journey to a diagnosis. It often happens to us that, at first, doctors are sceptical until they search and among the results, they see a gene that they had never thought of. This is where everything begins to change.

What are your four main goals?

  1. To accelerate and facilitate the diagnosis of rare diseases, thereby avoiding the odyssey that means an average of 7 years without a diagnosis
  2. To generate a powerful database useful for research on treatments
  3. To avoid the huge expenses caused by the repetition of unnecessary tests and visits to specialists
  4. To generate an ecosystem of care for these diseases among family physicians, patients and specialists

How many rare diseases are included in the tool and can be used as a diagnosis?

We currently index 10,713 rare and genetic diseases. 7183 have a known genetic basis and can be diagnosed with the appropriate genetic test.

What types or how many types of results can users get?

Users can investigate diseases, genes and variants, as well as the relationship between them. On the other hand, based on the recommended genes, Mendelian automatically looks for which commercially available panels best cover them, indicating how to access them.

What percentage of "reliability" have the results obtained from the tool and what is the next step after you get a concrete result?

Currently, we have published synthetic tests that show that you can expect between 80-98% success rate with three clinical features (if your disease is in our database and there is minimal noise and imprecision in the inputs - Once the attending physician has shortlisted potential causes, they should investigate clinical tests to confirm their most likely diagnosis. Once you get a result on our platform, the next step is to request a gene or a panel. If an exome has been requested, Mendelian's results serve to focus on the results of the analysis.

Are you interested in having your tool used by the general public, from doctors in hospitals to patients in their homes?

The tool is currently devised for health professionals, and we need as many of them, from hospitals to laboratories to professionals themselves. But being open and online, we know many of our current users are patients and relatives. To them, our advice is that of searching for the help of a professional.

Faced with the recommendation always given by health professionals that patients do not seek information on the Internet and always address their doctors, is it not a bit dangerous to give the general public access to this tool given their propensity to self-diagnose?

The internet gives unprecedented access to information and families, particularly those who live with the anxiety of a rare disease at home, are hungry for information and would not hesitate to search in medical literature for any details about their condition. We advice patients to seek professional support, but are very proud to allow patients themselves to access publicly available information in an efficient way.

In countries where it has already been tried, do you have a personal story that you can share to get the attention of the media?

A geneticist from Córdoba’s Reina Sofía Hospital had a 4-year-old patient who appeared to suffer from cystic fibrosis, which turned out not to be the case after checking with our tool. With the results obtained, he was able to analyse the exome he had sequenced from the patient and thus obtained an exact diagnosis. It was the first of many cases we have evidence of Mendelian’s success.

Every rare disease is a world away from the next one, but do they all have something in common?

They have in common the fact that each one of them is fairly unknown to the professionals, which is why it costs more to diagnose them. Also, it’s also costly to research them to find treatments.

How does Pfizer collaborate on the platform?

Pfizer endows Mendelian with the support needed to put the platform in the hands of the professionals who most benefit from using it. To this end, Mendelian is introduced in scientific societies, patient associations and working groups of related specialities. Pfizer also contributes to Mendelian’s dissemination in the media, to extend knowledge of its platform among patients.

At what stage is Mendelian now and what are the next steps to take? What challenges does Mendelian have?

The next steps will be to enrich the database and its algorithms, thanks to the incorporation of information from scientific publications and real clinical cases provided by users. We also have to increase access to the tool and broadened usage, for that collaborating with Pfizer will be a plus.

Mendelian the search engine for phenotype-genotype relationships

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