Heredity and DNA

Due to rapid advances in DNA technology, hereditary conditions can be detected with increasing accuracy. At the same time, researchers are gaining better understanding of genetic risk factors for common diseases such as diabetes, cardiovascular disease, cancer or dementia.  These developments enable earlier and precise diagnostics, personalised treatment options and innovative therapies.

The development of DNA techniques has significantly improved the diagnosis of hereditary conditions. Genetic abnormalities can now be detected more quickly and accurately, in some cases even before birth. In addition, population-based screening provides growing insight into the role of genes in common diseases such as dementia.

To support the development of innovative DNA techniques, ZonMw has various programmes for Talent development and curiosity-driven research. 

DNA techniques such as sequencing and SNP arrays make it possible to quickly and accurately analyse parts or even the entire DNA sequence and detect genetic abnormalties. This allows hereditary conditions to be diagnosed earlier and more reliably, significantly improving diagnosis. 

In addition, these techniques offer new possibilities for screening, for example to detect carrier status or genetic abnormalities even before symptoms appear. Within the Pregnancy and Birth programme (NL), ZonMw funds research to the development of prenatal and neonatal screening, such as NIPT and the heel prick test.

Genetic data obtained through DNA techniques can be used to identify genetic variants that occur more frequently in people with a particular disease than in healthy control groups. Statistical analysis methods, such as Genome-Wide Association Studies (GWAS) and polygenic risk scores (PRS), are used for this purpose. 

Many scientific studies apply this approach to assess whether the risk of developing conditions such as cardiovascular disease, cancer, diabetes or dementia can be estimated more accurately. This contributes to more personalised prevention and treatment strategies.

A representative reference genome is essential in this context, as genetic variants and risk profiles can vary between populations. The 1+ Million Genomes Initiative therefore aims to collect genetic data from more than one million Europeans ensuring that risk assessments and future applications better reflect population diversity.

The Early Detection subprogramme (NL) focuses on the early detection of diseases, conditions or risk indicators among healthy citizens. This is carried out within the areas of risk stratification, informed choice and innovative techniques. 

Knowledge of heredity and the use of DNA technology are playing an increasingly important role in medicine, both in selecting appropriate treatments and in assessing health risks for patients and their families. By understanding a person’s genetic profile, doctors can tailor treatments more effectively to the individual patient, resulting in more effective care, improved outcomes and fewer side effects. 

Examples of key applications include: 

•  Stem cell and gene therapy to repair defective genes or replace damaged tissue. The Pluripotent Stem Cells for Inherited Diseases and Embryonic Research (PSIDER) programme (NL) is designed to support biomedical research using induced pluripotent stem cells (iPS). This programme focuses on pluripotent stem cell research to develop alternative model systems for human embryos and to advance knowledge for the treatment of severe inherited diseases.
• The Personalised Medicine programme (NL) has examined factors that can help to predict how medicines will work more accurately, enabling more personalised treatment. In addition, ZonMw participates in the European Partnerships EP PerMed (NL) and ERA4Health (NL), which focus on the ‘personalised medicine’ approach and the use of preclinical and clinical models and technologies. 
• Pharmacogenetics helps predict how differences in DNA influence an individual’s response to medicines. This enables treatments to be tailored more precisely, making them safer and more effective. Visit the page on personalised pharmacogenetics (NL).

There are more than 7,000 rare diseases, around 80% of which are genetic in origin. Together, they affect an estimated 1 million people in the Netherlands and 26 to 30 million people in Europe. European collaboration is essential to advance knowledge and improve care for patients with rare diseases. ZonMw therefore participates in the European Rare Diseases Research Alliance (ERDERA) (NL), an international partnership within the European Commission’s Horizon Europe programme, focused on research into the aetiology of rare diseases. In addition, ZonMw is involved in the European programme for rare diseases: JARDIN (NL), which aims to improve care for patients with rare diseases.

National collaboration is also necessary. ZonMw coordinates the process for the development of a new National Plan Rare Diseases (NL), which will result in a future-oriented strategy for improving care for people with rare diseases by mid-2028. 

Heredity plays a role in 5 to 10% of all types of cancer. Genetic testing can identify changes in DNA that increase the risk of certain types of cancer, such as breast, bowel or ovarian cancer. Testing for genetic predisposition helps to better assess individual risk and to discuss options for monitoring, prevention and treatment.

Tumour DNA is also playing an increasingly important role in cancer diagnosis and treatment. By analysing the genetic characteristics of a tumour, clinicians can better determine which treatment is most likely to be effective for an individual patient.

Learn more about the topic Cancer.

Heredity and the use of DNA and genetic data also raise ethical questions. Genetic information is personal and can reveal details not only about an individual, but also about their family members. Genetic testing may reveal incidental findings (also known as serendipitous findings) that are not directly related to the research question. In addition, the long-term storage and reuse of genetic data require careful consideration of aspects such as privacy, consent and data security. 

Here you can find projects on the ethical aspects of DNA research. 

Learn more about Ethics.

Data and technology are playing an increasingly important role in research into heredity and DNA. By analysing large amounts of genetic data in a structured and intelligent way, researchers gain a better understanding of diseases and make treatments increasingly personalised. Artificial Intelligence also helps to accelerate diagnosis and identify patterns in DNA.

More information on the use of data and technology in health and care can be found under the topic Data and Technology.