Many aspects of the German Genetic Diagnostics Act (Gendiagnostikgesetz) are out of touch with the latest technology, almost impossible to implement in clinical practice, or even detrimental to the success of recognised screening tests, such as newborn screening. The Act, which came into force in February 2010, is in desperate need of amendment. This was the conclusion reached by the Academy Workgroup "Predictive genetic diagnostics as an instrument of disease prevention" of the German Academy of Sciences Leopoldina, the Berlin-Brandenburg Academy of Sciences and Humanities (for the Union of the German Academies of Sciences and Humanities), and the acatech - German Academy of Science and Engineering. The paper discusses all aspects of genetic testing of healthy individuals to prevent disease, including the medical, ethical, economic and legal dimensions of the issue.
"We are entering the age of genetic medicine," said the Workgroup's spokesperson, Professor Peter Propping, before going on to explain that an objective, factual discussion of the subject was important for the public and for government. Predictive genetic diagnostics involves analysing human genes to identify future disease risks. This type of test is becoming increasingly relevant because science is identifying more and more genetic variations that are linked to predispositions for specific diseases. These include a number of forms of hereditary cancers.
Scientists in the Workgroup agreed that predictive genetic testing should only be conducted at the request and in the interests of an individual. "Respect for the patients' freedom to make their own choices is essential," said Propping. The team categorically rejected eugenic ideas that aim to eliminate specific genes from the genome of an entire population or even go so far as to envision systematically "improving" the human gene pool.
The report also addressed the weaknesses and gaps in Germany's Genetic Diagnostics Act. Propping summed up the findings of the Workgroup by saying, "The Act should protect individuals. But to do so, it must offer adequate responses to questions of clinical practice." He explained that the Act must be amended to deal with the following situations:
Example 1: Newborn screening
The Act defines newborn screening, which has proven successful for decades, as universal genetic screening. This means that parents must be advised on the test prior to the blood sample being taken from their child's heel. However, nurses and midwives are not authorised to give this advice – only doctors are. There is increasing evidence that in the case of home births blood samples are frequently not taken and screenings not conducted, even though this is not actually in line with the parents' wishes. As a result it is not always possible to offer sick children proper treatment, even when it is urgently required. Therefore the Act must be amended to allow nurses and midwives to advise parents on the test.
Example 2: The family dimension
The Act places higher value on patient-doctor confidentiality than it does on a doctor's duty to provide care. For example, if tests show that an individual has a treatable, autosomal dominant hereditary disease for which a causative mutation has been identified, he or she is instructed to inform relatives that they may also risk developing the disease. After all, early diagnosis makes it easier to treat many illnesses, such as hereditary forms of breast cancer and intestinal cancer. However, doctors have no powers to check whether this information is passed on within the family or whether it is, perhaps even purposefully, withheld. With this in mind, the Act should not, as a rule, accord lower priority to a doctor's duty to provide care. Doctors should be in a position to assess individual cases and decide whether to inform family members in an appropriate manner of the risks of disease when there is a definite medical benefit in doing so.
Example 3: Data storage
The Act stipulates that as a general rule, doctors must store the results of genetic tests for ten years, after which time the information must be destroyed. This rule applies unless patients request that their information be destroyed sooner or stored for longer, and data must be retained if its destruction would infringe on patient interests worthy of protection. In everyday clinical practice, these regulations are impracticable and inappropriate. It is not always possible to establish within a decade what impact the – in contrast to other tests – irreversible genetic findings may have at a later date. Furthermore, the realities of clinical practice make it impossible for doctors to reassess each case before the ten-year limit expires and to reach a decision on whether to keep the data or destroy it. Thus, the Act should remove limitations on how long results can be stored.
The Workgroup comprised 17 renowned scientists from a variety of disciplines, including human genetics, medical ethics, law and health economics. Led by member of the Leopoldina Presidium Professor Peter Propping (human genetics, Bonn), the team worked intensively for 18 months on the report, which is now complete. The editorial group comprised Professor Propping, Professor Claus Bartram (human genetics, Heidelberg), Professor Jörg Schmidtke (human genetics, Hanover), Professor Jochen Taupitz (medical law, Mannheim) and Professor Urban Wiesing, (medical ethics, Tübingen).
A short English version of the paper can be found here: www.leopoldina.org