Precision medicine great for the individual and society

In the autumn of 2020, the Knut and Alice Wallenberg Foundation made an investment in computer-driven life science of SEK 3.1 billion. One of the areas is data-driven research in precision medicine and diagnostics, which will have a major positive impact on healthcare. Janne Lehtiö, professor of medical proteomics at Karolinska Institutet, explains why.

Imagine you go to your doctor with a symptom that is bothering you. The doctor takes a single blood sample and can then immediately determine what you are suffering from, what medication you need and the exact dose that will give the best treatment results for you. This is not some utopian future but a scenario that may play out in reality relatively soon in the case of certain diseases. So says Janne Lehtiö, professor of medical proteomics at Karolinska Institutet in Stockholm and who works with precision medicine and diagnostics.

In the autumn of 2020, the Knut and Alice Wallenberg Foundation made an investment in computer-driven life science of SEK 3.1 billion. Four areas are prioritised within the investment. One of these is data-driven research in precision medicine and diagnostics.

Precision medicine is about getting you as a patient, faster than today, the right diagnosis and then a treatment tailored to you.

“With the help of a molecular portrait of the patient and the data we have about various diseases, we will be able to match the diagnosis with the treatment that works best in each individual case,” says Janne Lehtiö.

Just because a drug works statistically well does not mean it works for everyone. Nevertheless, it is still usually the treatment that works on the majority of the patients at the time of development that is then used for everyone.

“This does not mean that the other treatments are ineffective. Treatment A may have worked on the majority while treatment B only worked on 5 percent of the patients, but for you it may be treatment B that works best,” says Janne Lehtiö.

For example, there is a special mutation in lung cancer where the mutation is in fact what drives the cancer. For this there is a specific treatment. When one of the treatments for lung cancer was developed, it was noticed that Asians responded to it more often than Europeans.

“If we, through a blood test where we see how the tumour’s genome is built up, can see that you have this mutation, it will help to find more effective medicine for you. Then we don’t need to look at external factors, such as your origin, because even though the mutation occurs more often in lung cancer among Asians, it also occurs in others who can then receive the right treatment.”

When a patient comes to the doctor today with stomach pain, for example, there are around 50 different analyses that can be done to find the cause of the symptoms. Several blood samples may be required that must be sent for several different analyses, where each analysis itself costs money and it often takes time before the health system arrives at a correct diagnosis, if it happens at all.

“With the help of precision medicine, it is possible to avoid all these different analyses and exchange them for a more systematic analysis, where you create a molecular portrait of the current situation, which can help to arrive at the correct diagnosis more quickly,” says Janne Lehtiö.

Data-driven life science with mountains of data and knowledge collected worldwide can thus be compared to a single blood test to diagnose you.

“The more data we have, the faster the learning system works, and with that comes savings. Savings in terms of time and suffering for the patient and time and money for care,” says Janne Lehtiö.

Precision medicine already exists to some extent today. When it comes to breast cancer, for example, you can measure certain proteins in the tissue and choose treatment for the patient based on that measurement.

“There are many who work with precision medicine already now, but this 12-year program gives us the opportunity to recruit specific skills in AI and computer science, among other things, and connect it to the strengths that already exist.”

Precision medicine can also be preventative. A DNA sequencing of the genome or your intestinal bacteria, for example, can show if you have a higher risk than normal of developing certain diseases.

“We already know the most likely doctor’s recommendation: Eat more fruits and vegetables, exercise more, don’t smoke. But in the future we will be able to give more specific advice,” says Janne Lehtiö.

Collecting so much data about individuals has its ethical challenges, including the storage and ownership of the data. But the ethical challenges must not stand in the way of the development of precision medicine.

“The benefit of precision medicine is so great for the individual and society. A bigger problem today is perhaps how data can leak from smartphones to different actors and what these actors choose to do with the information. Many health apps measure heart rate, sleep, how much you move, what you eat and more. When it comes to academic research, this is strictly regulated with ethical tests and permits, and we follow health care regulations.”

Janne Lehtiö says that computer-driven life science will change healthcare, and that in time will probably be included in general healthcare.

“There will also be other actors in healthcare and we will have a new way of working together – academia, healthcare and business. When we look at it from a societal perspective – based on the number of illnesses we can eliminate and deaths we can avoid – it is an obvious choice. The process itself is a fantastic opportunity to develop research and innovation in Sweden,” says Janne Lehtiö.