Genetic Diagnostics Draft Law: Reading in the Bundestag

BIO Deutschland attended a reading of the Genetic Diagnostics Draft Law at a meeting of the Standing Committee on Health at the Bundestag. During the meeting, BIO Deutschland demanded that urgent improvements be made to the government’s draft. Peter Heinrich, Chairman of the Board of BIO Deutschland, stressed that the draft was neither in the interests of citizens, nor did it take into account the current state of scientific research. He added, "The government must face the challenge of finding a more future-oriented and practical solution that is in the interests of Germany-based consumers and innovative companies."

However, the association also issued a statement in which it welcomed the government’s initiative to lay the foundations for a framework for genetic testing in Germany and to prevent discrimination resulting from genetic characteristics in the terms of this draft law. Nevertheless, the wide range of issues and information that are involved in the broader topic of genetic testing demand that there be not only a more detailed approach to those procedures that to date may only be carried out by a fully-qualified doctor, but also that there be a knowledge-based differentiation between diagnostic and predictive testing, as pointed out by Erwin Soutschek, the Chairman of BIO Deutschland’s Working Group on Diagnostics.

There are currently two aspects that now make it impossible to differentiate reliably between diagnostic genetic testing and predictive genetic testing. Firstly, there is now improved scientific knowledge about the connection between an inherited predisposition and the onset of a disease. Secondly, constantly refined diagnostic methods allow diseases to be diagnosed at increasingly early stages.

Further to the first aspect, there are very few incurable diseases that will occur with absolute certainty during a person’s lifetime as a result of an altered gene. Huntington’s disease is the best-known example of an illness that is caused by an inherited factor. In younger people, the disease initially leads to coordination problems and psychiatric changes; over the course of a few years, it causes dementia, insanity, paralysis, and leads to death. In the past, this rare and feared disease often served as a model for considerations and discussions about predictive genetic testing. New research has shown that in the case of most other genetic disorders, the onset can only be predicted with a certain probability. Early knowledge about a person’s predisposition may even allow the onset of the disease to be largely prevented. Examples include the metabolic diseases, phenylketonuria and maple syrup urine disease (branched-chain ketoaciduria). In addition, most common disorders also have a genetic component that contributes to the onset of the disease along with environmental factors and the patient’s lifestyle. Widespread conditions such as diabetes and cardiac disease are examples of this.

As regards the second aspect of the difficulty of distinguishing between diagnostic and predictive genetic testing, the boundaries between health and illness have also become increasingly blurred as a result of medical progress and ever more sensitive diagnostic methods. Many diagnostic markers used in the early detection of a disease are direct gene products that are included in the framework of the draft law. Even known experts have heated debates about whether a gene product is an indication ("predicator") or a symptom of a genetic disorder. As the exact date of the onset of a disease cannot be precisely determined, the differentiation between an existing and future disease and thus the differentiation between diagnostic, genetic, and predictive genetic testing is no longer possible. Moreover, most of the classical diagnostic markers, which are not based on genetic diagnostics, are also predictive.

BIO Deutschland calls for the two following amendments, among others, to be included in the Genetic Diagnostics Law, so that it is more in the interests of citizens:

Firstly, increasing demand should be better met by the admission of further suitable (indication-based) groups of consultant doctors, who could qualify in the field of genetic diagnostics by attending training courses. There are currently only a few hundred human geneticists and doctors specialised in genetic consultation in Germany, who are not able to meet the entitlement of 80 million people to obtain qualified advice on individual medical questions.

Secondly, parentage testing and the so-called paternity test should no longer be included in the Genetic Diagnostics Law. The DNA analysis used to ascertain parentage does not aim to determine the individual’s genetic disposition. Like the blood group analysis that is still used today, this type of DNA analysis is used to determine the probability of biological parentage. The suggested regulation would imply unnecessary interference by the state without creating any improvements for those involved and can therefore be deleted without substitution.