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German Scientists Take Aim at Genetic Dx Act

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – A group of German scientists have issued a report and a set of recommendations criticizing and recommending changes to Germany's genetic diagnostics law, which was passed last year.

The 17-member group, which spent 18 months developing the report, see some parts of the Genetic Diagnostics Act as "out of touch with the latest technology, almost impossible to implement in clinical practice, or even detrimental to the success of recognized screening tests," and they have issued a score of recommendations for changing the law.

According to the German Academy of Sciences Leopoldina, which developed the report with other institutions, the act is "in desperate need of amendment" as it pertains to subjects such as newborn screening, data storage, family notification, and direct-to-consumer genetic testing, among other areas.

The aim of the act was to determine requirements for genetic testing and analysis and, like the US' Genetic Information Nondiscrimination Act, to prevent genetic information from being used to discriminate in the workforce or in other nefarious ways.

Those requirements include rules stating that only doctors with certain training should be allowed to administer diagnostic genetic tests, and predictive genetic tests must be conducted only by medical doctors who are certified specialists in human genetics.

That part of the law has been criticized by the Foundation for Genomics and Population health as "essentially a complete ban on DTC genetic tests, a regressive and paternalistic approach that takes genetic exceptionalism to an extreme not seen in other jurisdictions."

Although the new recommendations offer a range of criticisms and proposals, the report echoes the law on DTC testing in particular.

The authors wrote that DTC tests "mostly have an uncertain scientific basis," and they "should not be permitted because they do not fulfill the requirements of medical and ethically acceptable predictive genetic diagnostics."

Peter Propping, the Leopoldina professor who headed the report, said in a statement that the law "should protect individuals," but added that "to do so, it must offer adequate responses to questions of clinical practice."

The authors argue that the act should be changed to allow nurses and midwives to advise parents on newborn screening because in many cases of at-home births blood samples are frequently not taken and newborns screenings are not conducted.

The report also criticizes the law for putting greater value on patient-doctor confidentiality than on the doctor's duty to provide care. In situations where people are shown to have a treatable autosomal dominant hereditary disease mutation, the patient is instructed to notify relatives that they may also have the disease risk. But because there is no way of guaranteeing that the patient will inform relatives who are at risk, the doctor should have the authority to assess such cases individually and to inform family members in some situations, the report advises.

The report also takes issue with a stipulation which states that doctors must store data on the results of genetic tests for 10 years, and then destroy it. Because in everyday clinical practice such regulations are "impracticable and inappropriate," according to the report, the act should be changed to remove limits on how long such information may be stored.

The authors propose a number of other recommendations. Among them, they advise that any excess genetic information generated through genetic diagnostic tests should be discussed with patients, but should not be recorded in medical files or in doctors' communications.

The group also advises that before predictive genetic diagnostics can be integrated into the health system, research should be done and evidence generated on the effectiveness and cost-effectiveness of such tests. Systematic translational research programs should be started to develop medical guidelines for predictive genetic diagnostics, the group suggested.

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