Personalised medicine concerns all of us

By Lars Bo Nielsen, Dean at the Faculty of Health, Aarhus University, Anders Børglum, Professor of Medical Genetics, Aarhus University, and Henrik Bech Nielsen, Director at Aarhus University Hospital.

Personalised medicine, precision medicine or tailored treatment is a revolution in the medical field. Personalised medicine builds on the impressive progress made over the last few decades when it comes to the possibilities for examining genes on an individual level. Today, it is possible to read the entire genome of a person in just a few hours for the modest price of approx. DKK 6,000. For that amount, which will fall in the coming years, we get an instruction manual for all the body's cells. This is valuable knowledge that can be used to make more precise diagnoses and to tailor treatment to the individual patient. Patients benefit more from medicine. And it saves society billions of Danish kroner for ineffective, costly medicine – money we can then use in other areas.

In 2016, the Danish government earmarked DKK 100 million for the development of personalised medicine over a four-year period in Denmark. The focal point of the national efforts is the Danish National Genome Centre, which will be responsible for the entire process with focus on Danish patients, so the mapping and analysis of genes can pick up speed.

Personalised medicine enjoys political support, we know it works, and here in Denmark we have the competences needed to use it, meaning that personalised medicine has every chance of making an extremely significant impact on the health of the Danish population. However, it is essential that the knowledge generated in research laboratories and at the university hospitals ends up benefiting society as much as possible. Decision-makers must therefore specifically consider how the organisation around the development of personalised medicine should take place. It is pleasing to see how it now appears that we in Denmark have succeeded in making the project a joint national programme, in which we collaborate across the country, as it was originally formulated in the Danish Ministry of Health’s National Strategy for Personalised Medicine 2017-2020. 

In research circles around the world, Denmark is known for its unique register-based research, because via our registration of health data and utilisation of the civil registration number in a largely public hospital service, can follow people from the cradle to the grave. This requires permission from the Danish Data Protection Agency and the committees on health research ethics, but can in turn contribute with a great deal of useful information which can combine variations in our genes to the course of lives and diseases.

The characteristics that people inherit are stored in the genome. From skin and eye colour to muscle types, build and the ability to metabolise food and medicine. Unfortunately, the predispositions to diseases are also inherited. The last decade’s medical research has been to a high degree directed towards the coupling of genomic variation and the development of diseases and the subgroups of these diseases.

The propensity to serious diseases such as cancer and heart disease may not yet be prevented in the traditional sense, but it is possible to plan a programme to closely follow a person from a given age such as 55 years old in the case of prostate cancer. In some cases, it is also possible to introduce what is known as a chemoprophylaxis, a preventive treatment. Chemoprophylaxis is most often based on low-cost and particularly harmless drugs with very few side effects. For example, acetylsalicylic acid, which is sold as aspirin, can reduce the development of bowel cancer among people with a hereditary predisposition by 15-20 per cent at a cost of a few Danish kroner per day.

Today, intensive research is being done into the correlation between genomic variation and development of common diseases such as diabetes, dementia and depression, and into defining new genomic subgroups of these diseases. With genomic insight into these diseases, an entirely new chapter is opened into the description of diseases. This divides diseases into subgroups according to which genetic variation forms the basis of the disease. These subgroups are interesting and may be quite decisive for how treatment is organised. The most widespread example is cancer, where the sequencing of the genome in cancer cells makes it possible for us to determine whether the tumour can be attacked with a specific treatment, or whether the treatment will only give the patient side effects and/or postpone the patient receiving an effective treatment. The same classification can be glimpsed in many other diseases – with the related correct selection of prevention and treatment – in what is known as tailored treatment, where we will achieve the greatest effect and the fewest side effects.

Denmark is now well prepared to exploit the opportunities offered by personalised medicine because recent years have seen intense work on gene sequencing at the large university hospitals and universities. Aarhus University Hospital was the first in Denmark to establish a molecular medicine department where the new gene sequencing technology was gathered in a shared robotised laboratory for the benefit of patients in many departments. Here genes are sequenced daily from a wide range of patients with cancer, heart disease, immune deficiencies glandular diseases and rare syndromes. Aarhus is also home to a major international project within psychiatry, which is mapping the genetic variations behind the most common mental illnesses. The project has so far demonstrated results that are highly significant for the development and course of e.g. schizophrenia, ADHD, autism and depression. The project combines Denmark's largest gene database with public register databases – in anonymised form – creating new insights into the significance of the genome for e.g. relapses in cases of depression and suicide risk. This has fostered a great deal of professional expertise in working with databases, which can now be readily made available to the national initiative in personalised medicine.

The national efforts for personalised medicine are primarily aimed at patients at the Danish hospitals, who should be able to receive more accurate diagnoses and tailored courses of treatment. This will require further education and training of hospital staff and the expansion of the bioinformatics study programmes. In Aarhus alone, 15 new bioinformatics graduates will complete their studies in 2018. They will contribute to the dynamic and ever-growing environment, partly at the university's departments, partly at the university hospital, where a large group of bioinformatics, genetic and molecular medicine researchers, in interaction with similar national and international environments, study changes to the genome, in particular cancer. This expertise should be used as a platform for continuing education of medical doctors who can contribute to the National Genome Project and ensure that we can interpret the significance of the genome for the development of a disease and its treatment.

We need to build up a knowledge database with guidelines for the treatment of patients with given genomic variations – preferably in an international collaboration. The database must be regularly updated, so the national project should be viewed as a dynamic process, where we gradually increase the knowledge that will benefit patients, while at the same time making it usable in everyday life in the form of guidelines.

Denmark has a relatively homogeneous hospital environment, joint registers and patients who are happy to make themselves or their data available for research. We should therefore be able to utilise the right infrastructure to make ourselves relevant internationally within this area. In this way, we can attract talented researchers and trials of new drugs that are targeted a molecular disease classification. By turning the initiative for personalised medicine and the national genome centre into a matter of common interest, Danish patients could be among the first to benefit from the newest knowledge. We look forward to continuing and expanding this national collaboration.