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 (Vævsanvendelsesregister): sundhedsdatastyrelsen.dk (in Danish)
  • 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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Q&A about the genetic marker analysis of cardiovascular patients project (Genmarkøranalyse af hjertekarpatienter)

1: Which patients will have their genes tested in the project?
A total of 120,000 patients from the Capital Region of Denmark who have been diagnosed with, or treated for, a cardiovascular disease at a hospital within the region from 2009 and onwards.
2: Will all patients who have been diagnosed or treated from 2009 and onwards participate in the project?
No, only some patients will participate.
3: What should I do if I want to know whether my blood sample is part of the project?
You can contact the Department of Clinical Immunology at Rigshospitalet on telephone no. +45 3545 4919, Monday-Friday.
4: What should I do if I don't want to have my genes tested?
If you don't want to participate in the study or in other research projects using blood samples, please register at the registry for use of tissue (Vævsanvendelsesregister). You will then be excluded from the project. sundhedsdatastyrelsen.dk (in Danish)
5: What should I do if I want to have my genes tested?
The research project is based on samples already collected, and therefore you cannot register for the project. If you think that you need a genetic examination, please contact your general practitioner.
6: What happens if a congenital disease is discovered in a genetic analysis?
If an unexpected genetic defect is discovered, and the patient is not already familiar with this defect, the project will follow the guidelines from the National Committee on Health Research Ethics. The guidelines state that researchers must react if they find a genetic defect that is very likely to have an impact on the patient's health and can be cured or treated. In this case, the patient will be contacted by the hospital department to which he/she is attached, or by a physician from the Department of Clinical Genetics at Rigshospitalet. 
See the guidelines here (in Danish)
7: Why send the blood samples all the way to Iceland?
deCODE Genetics is one of the world’s largest research centres within genetic analysis and the company has the necessary capacity and experience. Denmark does not have research communities with the same level of experience in large-scale genetic testing.
8: How many people will see my genetic analysis?
When the samples are analysed, it is not possible to see who the individual blood sample comes from. deCode Genetics will work on the blood samples in anonymous form, and Danish researchers will continue their work on the data in anonymous form. Only very few researchers will have access to identify the person.
9: How do you ensure that unauthorised persons cannot access data?
Data will be stored on a secure supercomputer, Computerome, at DTU Risø (Technical University of Denmark), which has been approved to process health data. Among other things, the computer uses Secure Private Cloud ensuring that data remains in the closed system.
10: Who has authorised analysis of the blood samples?
The project was initiated at Rigshospitalet. 

The Copenhagen Hospital Biobank, in which the blood samples are stored, has been approved by the Danish Data Protection Agency. 

The Danish Data Protection Agency has also approved data handling on Computerome and by deCODE Genetics. 

The research project itself has been approved by the National Committee on Health Research Ethics.


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