On-line genetic testing: the principle of 4Ps medicine



Last October 7th, Vozpópuli published the article “A Spanish start-up launches ‘low cost’ and on-demand genetic analysis as a form of “preventive medicine”, where our CEO, Clement Destoumieux, was interviewed by journalist Diana Fresno, and among other topics, he talks about the democratization of genetic analysis.


This article in Vozpópuli serves as an “excuse” for me to delve into some of the issues that we encounter on a day-to-day basis when it comes to disseminating the concept of “predictive medicine”.


I will start this post by analyzing the title of the article, namely the concepts of “low cost” and “preventive medicine”.


Low cost

It is becoming increasingly easier to access a genetic analysis, as already discussed in the post Genetic analyses are becoming routine analysis in this blog, thanks to both the drop in the price of the analyses and the possibility of accessing them through platforms such as medmesafe from anywhere.


Source: https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost 


When I hear the concept of “low cost” related to a product or service, I cannot help but think at first that the price reduction of this product or service has been achieved by reducing the quality compared to one that is similar but more expensive. This relationship is not always true, and in this case it is not true either, because thanks to the improvement in sequencing technology, the quality of the analyses has increased (nothing to envy to any other type of analysis that we can perform) and the cost of the same has been reduced, as you can see in the graph above.


A complete genome sequence in 2001 cost 100 million dollars and is currently around 1,000 dollars, with a spectacular increase in the quality of such sequencing, after almost 20 years of technological improvement.


Preventive medicine

Today’s medicine is curative: we only go to the doctor when we are sick, but we are beginning to see a shift towards “4Ps” medicine: Preventive, Predictive, Personalized and Precision.


Currently, there is a lot of confusion about these concepts outside medical circles. The most commonly used concept is “preventive medicine” and all other concepts are lumped together. It is true that the four concepts are (very) closely related and that is why we speak of “4Ps medicine” and not just one of them. In this sense it is necessary to say that medmesafe is not a “preventive medicine” platform, but a “predictive medicine” platform.


Although I will go into detail later on about the concepts mentioned above, I would like to go into the concept of “preventive medicine” in a simple and very simplistic way. We all understand that not smoking, not drinking alcohol and doing sport at a level appropriate to our age and physical condition is “preventive medicine” or at least applying the concept that our grandmothers (or at least mine) used to say: “prevention is better than cure”. These good lifestyle habits improve our health, but they do not prevent us from getting diseases.


medmesafe is not a platform that aims to provide preventive medicine, but rather it aims to provide data and tools for medical professionals to perform preventive medicine. Therefore, medmesafe is a “predictive medicine” platform that connects users (whether they are sick or not) with health professionals who are experts in “preventive medicine”, capable of using the data and tools provided by “predictive medicine”.


Through advertising campaigns and the media we get those lifestyle habits that help us to improve our health, i.e. “preventive medicine” habits. But should everyone follow all preventive medicine measures? The answer is no, although it would be highly advisable, adapting them to your own circumstances. Let’s use a very simplistic example to introduce a new concept. Let’s talk about lung cancer and smoking. We all know that smoking increases the probability of getting lung cancer, but I know people who have smoked all their lives and have died without lung cancer and other people who have never smoked and have had it, so banning everyone from smoking does not ensure that there will be no lung cancer (there are other causes that generate it) and there are people who can smoke and who will never get lung cancer. So if we had data that we could interpret, we could “personalize” lifestyle habits and say to some people you SHOULD NOT/CAN smoke and to others you SHOULD NOT SMOKE/YOU CAN smoke, from the point of view of having lung cancer.


With this example I am introducing the concept of “personalized medicine”. This concept is becoming increasingly important, also alongside curative medicine, because it serves, among other things, to tell a person which medicine (and in what dosage) is the most suitable for the disease he or she has, based on pharmacogenetics.


Currently, I have a friend who has colon cancer with metastases in the liver and peritoneum who has undergone a genetic analysis to find out which chemotherapy is the most suitable for her cancer and, if possible, to minimize the side effects of chemotherapy.


Current medicine uses statistics (which I will talk about later in this post) in these cases to choose which chemotherapy to give to a cancer patient: in most cases (whatever that number is) for colon cancer, chemotherapy “x” is given. But what happens if you are outside the Gaussian bell and you are an exception to the rule and therefore chemo “x” does not work for you? Well, a certain amount of time has passed (and we all know that time is important in this disease) until we have evidenced that it does not work and it is changed for another one (the next most likely) that may or may not work, and so on until we find the one that works.


What is the Gaussian bell? In this video you have a simple introduction.



Instead of using this probabilistic trial-and-error system, if we have a pharmacogenetic study, as my friend did, the most appropriate product and dose for that patient will be put in place from the beginning.


The future of medicine is “personalized and precision medicine”. Do I have to take a 1g paracetamol when I can take an 865mg paracetamol? We are able, today, to know how each of us absorbs certain molecules and therefore what doses we need of them … and there are more and more new studies that provide us with more information on these issues.


Finally, on the subject of “4Ps medicine”, we will talk about “predictive medicine”. Thanks especially to genetics, we are able to predict the probability of having a certain disease. There are (genetic) diseases that we know whether we have them or not and it is not a matter of probability but of measurement. In this line we are able to know from the 10th week of pregnancy if a baby has Down’s syndrome or Patau’s syndrome or Edwards’ syndrome with a simple blood test of the mother.


There are other cases, such as hereditary cancers, where we can know the probability of developing the disease. If you have a genetic analysis of this type and it tells you that you are likely to have breast cancer, a specialist doctor will be able to help you take preventive and personalized measures to avoid or minimize breast cancer. These measures could include not smoking, not drinking alcohol, doing sport and having mammograms more often than “normal” people (statistically speaking, those who are within the Gaussian bell and are not at risk of hereditary cancers). If you are not likely to have hereditary breast cancer, it is not justifiable to increase the frequency of mammograms … not smoking, not drinking alcohol and doing sport, we all know that it is advisable for everyone.


Having said all of the above and to qualify the title of the Vozpópuli article, medmesafe is a “predictive medicine” platform, which serves to support medical professionals, public or private, and which allows users to access qualified professionals in the field of “preventive medicine”, but it does not do “preventive medicine”, this is done by medical professionals.



Another issue the article touches on is that of hoaxes, and this is a very important issue.


In all areas of today’s society, including medicine, it is necessary to be wary of hoaxes that circulate, especially on the internet and social media.


I agree with the statement in the article “A large part of the medical community warns that this type of on-demand genetic testing only offers results based on statistics that do not necessarily imply a real disease, and therefore generate scaremongering”, although I would introduce several nuances.


The first nuance is that performing a genetic test via the internet IS NOT ALWAYS an “on-demand genetic test”. On-demand genetic testing is more related to direct-to-consumer genetic testing. In our case, the user cannot carry out the genetic analysis without a prescription from a doctor and cannot access the results without the doctor explaining them correctly to avoid unjustified scaremongering. Here I leave you a link with how medmesafe works so that you can see all the details of how it works.


The Internet helps to democratize genetic testing, so that anyone anywhere can perform a genetic test, but it does not have to mean that genetic testing is done without a prescription or medical accompaniment, explaining the results to avoid misinterpretation and unnecessary scaremongering.


The second nuance is the “problem” of statistics, which I have discussed only slightly earlier in this post. What is the problem with statistics? Unless I am mistaken, statistics is part of mathematics, which is a science.


Statistics, a branch of mathematics, begins to be studied in the 1st year of ESO and is a fundamental part of our society. If you have seen the previous “pill”, you will see how many subjects statistics is used in. As another example, those of us who are “telecoms”, in the branch of telematics, use statistics among other fields in the Theory of queues, a tool widely used to calculate the size of communications systems and thanks to them we do not have collapse in the telephone exchanges, mobile or fixed.


Today’s (curative) medicine is also based on statistics. Apart from the example I gave above about chemo, many of you, especially as new parents, will have experienced the anguish of going to the emergency room at “so many” in the morning with your child with a fever of 40 degrees and after a “while” of waiting you are told to give him dalsy because he has a virus:


– A virus? What virus?

– The one they all have … if you don’t get over it in a while, come again.


For the diagnosis, statistics have been used: “it is the virus that everyone has at the moment because we are at the peak of the contagion”. But what happens if my child has something else? Well, we have wasted our time and with a bit of luck the next time we go back to the doctor another symptom has appeared that causes the diagnosis to be changed and the disease to be diagnosed correctly. Generally this process does not involve serious risks, but we have heard of very serious situations that have not been detected in time, ending fatally. This is what distressed me the most as a new parent, because I would like that if my daughter has a virus, she leaves the emergency room with the name, surname and ID number of the virus and with a personalized treatment, if it exists for the virus (and if it doesn’t exist, lots of water and dalsy, as always).


The problem with statistics is not that they tell you that you have a 7.31% chance (this is a simile, because genetic predisposition to have a certain disease does not occur in this way) of having a disease, which is useless, but that a doctor can recommend appropriate measures to avoid or minimize the disease based on the probability of having a disease. We all know that early detection of cancer is one of the best options to minimise the consequences of cancer if it occurs. If you know that you have a certain probability of having cancer, it seems interesting to increase the frequency of check-ups as a preventive measure. It will not stop the cancer, but it will increase the probability of survival and minimize the consequences of treatment.


Not all market analysis is of adequate quality and it is necessary to differentiate between good analysis and bad analysis to avoid false positives and errors such as the error outlined in the article by Antonio Martinez Ron referred to in the article I am analyzing.


To avoid having an inadequate analysis on the medmesafe platform we have a scientific and ethical committee that is in charge of choosing the best analyses offered by the laboratories. There are certain types of tests that we currently do not have on the platform because their scientific accuracy is not yet clear and they have been advised against by the committee. If in the future the scientific accuracy of these analyses is proven, we will incorporate them.


In Antonio Martinez Ron’s article, reference is made to direct-to-consumer tests, which, as I have explained above, is not what we do at medmesafe, since no test is done without a prescription from a doctor, nor are the results delivered without being explained by the same doctor who prescribed them.


In his article, Antonio Martínez Ron points out those platforms that can cause errors and that have become very popular due to the low cost of their analysis and highlights something that we also subscribe to at medmesafe: “You should not do any medical test without any concrete reason. It is a basic medical principle. People come to our platform because they have a concern and many of them, before buying a particular genetic test, go through a genetic counseling where they assess with a specialist whether a test is necessary and if so, which one. Once the analysis has been purchased, whether a genetic counseling has been carried out or not, a video conference will be held with a doctor of your choice who will prescribe the analysis if it is necessary. If for any reason the doctor does not prescribe the analysis, the money will be refunded directly to the card with which the payment was made.


Antonio Martínez Ron also states in his article that there are many doctors who do not have the appropriate training: “Another problem is that this type of report not only misleads the user, but also that many doctors are not prepared to interpret this information”. At medmesafe, with the help of our scientific and ethics committee, we select from our network of doctors those who have the appropriate training, both for genetic counselling and for the interpretation and explanation (for humans, not for expert geneticists) of the results.


To combat hoaxes, the best we can do is to explain the current state of the art of genetic analysis, so that users can safely choose those services that are best suited to their circumstances, so it is important to thank both Diana Fresno and Antonio Martínez Ron for their work in explaining the current situation and giving the rest of us the opportunity to delve deeper into the issues they raise.


With the excuse of the article “A Spanish start-up launches ‘low cost’ and on demand genetic analysis as a form of “preventive medicine” I have tried to expose some issues that I think are interesting to highlight about medmesafe. I’ve left some of them behind, but I think this post has been a bit long, so if you’ve made it this far I can only thank you. Later on I will develop in another post what I have left to explain.


Carlos Martín, CTO of medmesafe:


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Project manager of the architecture service in SEPE Central Services - Procesia WEB and API architecture service coordinator - INECO Former CTO - medmesafe