Historically large genetic analysis to improve treatment of heart patients

​Researchers from the Capital Region of Denmark and the University of Copenhagen are launching Denmark's largest genetic study of blood samples from around 120,000 cardiovascular patients. The study can be used to customise patient treatment, improve diagnostic evaluation and treatment of cardiovascular diseases as well as limit unnecessary preventive treatment.

In order to help future cardiovascular patients to a more precise treatment, researchers from the Capital Region of Denmark and the University of Copenhagen are conducting genetic mapping of 120,000 patients in a project analysing genetic markers in cardiovascular patients (Genmarkøranalyse af hjertekarpatienter). 

Professor in congenital heart diseases, Henning Bundgaard, Consultant at the University of Copenhagen and head of the Division for Congenital Heart Disease at Rigshospitalet looks forward to starting the project: 

"The study is the first and largest of its kind in Denmark, and can become a decisive step towards offering more personal treatment to patients with the most common cardiovascular diseases.” 

The mortality rate of cardiovascular patients has dropped significantly over the past two decades, but cardiovascular diseases are still the cause of around one in four of all deaths in Denmark. 

"There is an urgent need to gather new and more profound knowledge within this area. Today, the typical cardiovascular patient receives life-long treatment. This helps many patients, but they have no prospect of being cured by the treatment. If we're to improve this situation, we need to gain a more detailed understanding of the diseases. Results from abroad show that genetic studies can help us understand the mechanisms that increase patients' risk of developing cardiovascular disease," said Professor Bundgaard. 

More accurate treatment

In Denmark alone, around 650,000 people are receiving cholesterol-lowering treatment. 

"We're undoubtedly treating more patients than necessary because we don't have enough knowledge about which patients are at particular risk. Overall, we're probably not treating too many patients, but the question is whether we're treating the right patients," said Professor Bundgaard.

In the study, the researchers will analyse blood samples from around 120,000 cardiovascular patients who have been treated at hospitals in the Capital Region of Denmark. Moreover, the blood samples will be screened for genetic markers. 

The researchers will focus on markers that can be linked to the five most common cardiovascular diseases: high blood pressure, atherosclerosis/hardening of the arteries, cholesterol diseases, arrhythmia and heart failure.

Data will then be analysed collaboratively with the Novo Nordisk Foundation Center for Protein Research and the Faculty of Health and Medical Sciences at University of Copenhagen.

Vast amounts of data from genome screening

Data from the project will be extensive due to the analysis method and the large number of patients. Professor Søren Brunak from the Novo Nordisk Foundation Center for Protein Research is responsible for coordinating the data analysis to identify disease mechanisms relevant to these patient groups. 

He emphasizes the importance of data being stored safely and confidentially according to current legislation. 

"We use advanced methods of data security, such as Secure Private Cloud, to secure data in super computer systems. It's essential that we're confident about how data is managed and processed. Therefore, staff working in the system cannot retrieve data, and all actions in the system will be monitored and stored for more than 15 years," said Professor Brunak.      

Strong cross-disciplinary partnership

The new research project is the first major joint activity in the cross-disciplinary research collaboration between the University of Copenhagen and the Capital Region of Denmark (Copenhagen Health Science Partners). Sophie Hæstorp Andersen, Chairman of the Regional Council, considers the strong collaboration a great advantage for patients: 

"First of all, exploiting new technological possibilities to improve and customise treatment will be a huge benefit for the individual patient. Therefore, it's so important that we couple hospitals' skills and closeness to patients with strong university communities." 

Direct application of knowledge

Professor Bundgaard hopes that patients will be able to see the results of the study in just a few years: 

"A realistic future scenario could be that, as a physician, I would be able to base a patient's treatment on a genetic test of variations in the genes that have an impact on the patient's disease. If I have a cardiovascular patient who is a smoker, my first impulse would be to treat the patient more aggressively than a non-smoker. However, if it's possible to measure that the patient has very few gene mutations in the crucial areas, and has a low cholesterol level, it might not be necessary to treat the patient as aggressively as first assumed." 

If the research project is a success, the plan is to use the same gene-based model for other major disease areas. 

Facts about the project

  • Around 120,000 blood samples from cardiovascular patients in the Capital Region of Denmark will be analysed for a range of the most common genetic changes related to five cardiovascular diseases: high blood pressure, ischemic heart disease (atherosclerosis/hardening of the arteries), cholesterol diseases, arrhythmia and heart failure.

  • The hospitals behind the project include the Department of Clinical Immunology at Rigshospitalet as well as the cardiac departments at Rigshospitalet, Herlev-Gentofte Hospital, Bispebjerg-Frederiksberg Hospital, Amager-Hvidovre Hospital and Nordsjællands Hospital. 

  • Laboratory work and laboratory analyses will be carried out by the Icelandic firm, deCode Genetics. The samples will be sent in pseudonymised form and cannot be traced back to the patients' civil registration numbers. 

  • Further analysis of data from several sources will take place in Denmark collaboratively with the Novo Nordisk Foundation Center for Protein Research and the Faculty of Health and Medical Sciences at University of Copenhagen.

  • Data will be stored and analysed in Denmark using new technologies for data protection and technologies to monitor staff accessing data. 

  • Data will be physically stored on the University of Copenhagen Computerome supercomputer located at the Technical University of Denmark's facility at Risø near Roskilde.

  • Patients will be able to deregister from participation in research based on their blood samples and other tissue in the registry for use of tissue on the website for Sundhedsdatastyrelsen

  • In January 2018, the project was approved by the National Committee on Health Research Ethics and it will be launched in spring 2018. 

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