In Germany, the Genetic Diagnostics Act (GenDG), which came into force on February 1, 2010, regulates the use of genetic testing in humans. It is an important law designed to ensure that progress in genetics is used responsibly – both to protect health and to protect personal rights.

The Genetic Diagnostics Act specifies the conditions under which genetic tests may be carried out. It distinguishes between different types of tests: medical tests, for example, which are intended to detect disease risks, ancestry tests to clarify family relationships and so-called predictive tests, which can provide indications of future illnesses. The aim of the law is to prevent abuse and protect people from discrimination – for example by employers or insurance companies who could use genetic information to reject someone or demand higher premiums. This is why, for example, it is forbidden for employers to request genetic tests before hiring someone, and insurance companies may only use such data in exceptional cases, such as for very high sums insured.

A key point of the law is self-determination. No one may be forced to undergo genetic testing, and anyone who does must be informed in detail beforehand – about the opportunities, risks and what the results could mean. This counseling, often by specially trained doctors, is required by law so that those affected can make an informed decision. This applies in particular to tests that could have serious consequences, such as testing for genetic diseases like breast cancer or Huntington’s disease.

This is where laboratory medicine comes into play. It is the backbone of genetic diagnostics, as genetic analyses would not be possible without state-of-the-art laboratories. In laboratory medicine, samples such as blood, saliva or tissue are examined in order to analyze the genetic material – i.e. the DNA. Using techniques such as the polymerase chain reaction (PCR) or DNA sequencing, specialists can decode tiny sections of genes and identify changes that could indicate disease. This is not only important for diagnosis, but also for prevention: if someone knows that they have an increased risk of a certain disease, they can act early – for example by having regular check-ups or making lifestyle changes.

However, the importance of laboratory medicine goes beyond genetic testing. It is a key area of modern medicine as a whole. Around 70 percent of all medical diagnoses are based on laboratory results – be it for infections, diabetes or cancer. In genetic diagnostics, the results are often very sensitive. An incorrect result could unnecessarily frighten people or give them a false sense of security. This is why the GenDG sets high standards: laboratories must work in a quality-assured manner and the results may only be interpreted by specialists.

The interaction between the law and laboratory medicine therefore creates trust. While the GenDG sets out clear rules, laboratory medicine ensures that the tests are reliable and precise. At the same time, technical progress is constantly raising new questions. What will happen when genetic tests become even simpler and cheaper? How do we deal with big data in genetics? The Genetic Diagnostics Act is a living set of rules that must adapt to such developments.

To summarize: The Genetic Diagnostics Act protects people’s rights and regulates the use of genetic tests, while laboratory medicine provides the basis for carrying out these tests in the first place. Together, these two aspects enable medicine to become increasingly personalized – but also to remain responsible. For many, this is a glimmer of hope, for others an ethical challenge. One thing is certain: without these two pillars, modern genetic diagnostics would be inconceivable.

Editorial office: X-Press Journalistenbüro GbR

Gender note. The personal designations used in this text always refer equally to female, male and diverse persons. Double/triple references and gendered designations are avoided for the sake of better readability ected.