Pros and cons of genetic diagnosis

Many diseases are caused or at least favored by genetic factors. Here, the so-called predictive genetic diagnosis can contribute to the fact that disease is detected much earlier and appropriate medical measures are initiated.

The working group initiated by several German science academies „Predictive genetic diagnosis as an instrument of disease prevention“ has developed an opinion on the opportunities and risks of predictive genetic diagnostics over the last year. Key areas of scientific interest included issues such as: „When is a predictive genetic diagnosis in the sense of disease prevention useful and when not?“ or „How can legal regulations valid in Germany, in particular the gene diagnostics law, be further developed??“

Health system so far poorly equipped
The researchers of the Leopoldina - National Academy of Sciences, the Berlin-Brandenburg Academy of Sciences (BBAW) and the German Academy of Engineering Sciences acatech, who have participated in the working group, came to the conclusion in their scientific analysis of predictive genetic diagnostics in Germany sometimes still considerable deficits exist. For example, the Bonn human geneticist, Professor Peter Propping, considers the German health care system to be insufficiently equipped in terms of predictive genetic diagnostics. „Our health system needs to be changed at this point“ the expert explained to the „Central German newspaper“.

Early diagnosis increases treatment options
In general, the sooner a disease is detected, the higher the treatment options. Thus, checkups are an integral part of our health care system and form the backbone of modern medicine. This is where predictive genetic diagnostics comes in. Because most diseases are genetically determined or favored, so that in the context of a genetic analysis can be detected at an early stage possible disease - sometimes long before the actual disease breaks out. Thus, appropriate medical precautionary measures can be initiated even before the onset of illness.

Physicians of various disciplines should cooperate
The prerequisite is that medicine has already scientifically proven the connection between certain genetic predispositions and the occurrence of corresponding diseases. In this context, Prof. Propping emphasized that genetic changes, for example, increase the colorectal cancer risk, but at the same time there are indications that the changes also increase the risk of further cancers - but so far only the intestine is regularly examined medically. For „The diagnosis and long-term care of these patients, we would actually need centers that have all these diseases in mind“ explained Prof. Propping. The working group therefore criticized in its statement on predictive genetic diagnostics also that physicians rarely collaborate so far interdisciplinary. For example, Professor Propping demands that specialists in the various disciplines should be brought together under one roof. „And because it's not just about early detection, but often about treatment, this should be under the roof of a hospital - even when it comes to the outpatient care of patients“, added the Bonn human geneticist.

Many diseases genetically conditioned
The members of the working group on predictive genetic diagnostics underlined in their statement that the genes are often responsible for the occurrence of diseases and sometimes even mutations in a single gene are sufficient to trigger a serious illness. In some of these monogenic diseases such as breast cancer, the method of predictive genetic diagnosis is already being used today. Also in certain forms of colon cancer or in the metabolic disease cystic fibrosis offers such a method. In other diseases, such as allergies, diabetes or cardiovascular disorders, which may be geentisch caused in many ways, the method is so far hardly used, since the medicine has not yet analyzed the direct relationships between genetic disposition and the onset of the disease. The extremely complex interaction of genes and environmental influences, which is crucial for the development of diseases and the severity of the course, offers the science a few puzzles until today.

Predictive genetic diagnosis for individualized medicine
However, with the progressive decoding of genetic risk factors, predictive genetic diagnostics can be applied not only to monogenic diseases but also to complex diseases such as heart attacks or diabetes, researchers hope. Science is currently making great progress here, and in addition, analyzes of the entire genome of individual patients are becoming easier and cheaper, so that a broader use in health care is conceivable according to the researchers. If necessary, the risks for each individual patient could be determined individually. The coordination of drugs on the genetic profile of patients, would be conceivable, according to the researchers. In its opinion, the working group comes to the conclusion that predictive genetic diagnostics, despite the hitherto unsatisfactory application, can in future form an important building block for individualized medicine in Germany. (fp, 11.11.2010)

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Picture credits: Christiane Nill