Sample processing for the National Register Biobank at the Central Biobank Charité, ZeBanC., Wolfram Scheible für Nationales Register © Wolfram Scheible für Nationales Register


Genetic Research? Yes, Please!

The Majority of Patients is in Favor of Donating Samples Themselves

Scientific name of the study

Patients with congenital heart defect and their families support genetic heart research.

Would you be willing to provide a saliva or blood sample for genetic research in congenital heart disease to the National Register for Congenital Heart Defects?

This is what scientists at the Competence Network for Congenital Heart Defects asked participants of the National Register in an online survey. By completing an online questionnaire, 2,035 patients (aged between 13 and 30 years), parents and biological relatives took part. The results were clear: Over two thirds of the respondents (67.3 percent) agreed in principle to support the genetic research on the basis of the National Register by donating a saliva sample. Sixty-two point two percent would be willing to provide a blood sample. Moreover, about half of the respondents said they would inform their biological relatives about the Register’s genetic research and try to motivate them to donate samples for research too. Less than a fifth of the respondents (18.3 percent) declined donating a saliva or blood sample. Fourteen point four percent abstained from responding.

  • Good to Know

    Genetic Research with the National Register

    How are the samples and the results handled?

    Scanning of the code of a donated sample. © Wolfram Scheible für Nationales Register
    Scanning of the code of a donated sample.

    What do researchers know about me after analyzing my sample? Will my health insurance company or my employer learn about it? Could scientists analyzing my samples be able to advise me regarding my individual disease risk? People who donate blood or saliva samples to the National Register Biobank have many questions. Here is, what patients and sample donors should know:

    What Does Genetic Research in Congenital Heart Disease Imply?

    In genetic heart research, scientists analyze blood, saliva or tissue samples of individuals with congenital heart disease. This is the only means to determine why and at what point during a human’s development heart defects emerge; how the single primary diseases develop over time; and which genes are involved. The results should help to develop improved treatment options for those affected in the future.

    What Happens to my Sample and the Results?

    The National Register Biobank collects blood, saliva and tissue samples of patients, as well as blood and saliva samples of their biological relatives, for genetic heart research. The collected samples are collected, stored and analyzed in a pseudonymized way. Genetic research on congenital heart disease is not based on the analysis of individual samples: Scientists have to analyze a large number of samples at once in order to get reliable research results. Their research focuses on certain disease patterns or genes instead of individual patients. Accordingly, in contrast to genetic diagnostics, individual diagnoses are not established.

    The results of the research are published in medical journals and also on our website. This happens in an anonymized form exclusively. Data and sample donors cannot be identified by the published data. If you are interested in learning more, see Information on data safety and Frequently asked questions to find answers to various questions.


Exchange between Experts and Patients is Important

According to the scientists, the high degree of willingness to provide biological samples suggests that most patients are aware of the important role that genetic research in congenital heart disease plays when it comes to improving therapies and prognoses. “In general, the majority of the participants considers genetic research as a positive trend,” Paul Helm, the author of the study, says. At the same time, at 14.4 percent, the proportion of neutral reactions is relatively high. This implies that the patients still have many unanswered questions. According to the psychologist Helm, easy-to-understand communication and a continuous exchange of experts and patients regarding genetic research remains crucial.

  • Scientific Details of the Study

    Learn more about the study design, material and methods, as well as the background of the study:


    • 9/2018

      Patients with congenital heart defect and their families support genetic heart research.

      Helm PC, Bauer UMM, Abdul-Khaliq H, Baumgartner H, Kramer HH, Schlensak C, Pickardt T, Kahlert AK, Hitz MP

      Congenital heart disease 13, 5, 685-689, (2018). Show this publication on PubMed.


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