Pros and cons of genetic diagnosis



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Many diseases are caused or at least favored by genetic factors. Here, so-called predictive genetic diagnostics can contribute to the disease being recognized much earlier and appropriate medical measures being initiated.

The working group "Predictive Genetic Diagnostics as an Instrument of Disease Prevention", initiated by several German science academies, developed a statement on the opportunities and risks of predictive genetic diagnostics in the course of last year. The main focus of scientific interest included questions such as: "When is predictive genetic diagnostics useful in terms of disease prevention and when not?" Or "How can legal regulations applicable in Germany, in particular the Genetic Diagnostics Act, be developed further?"

Health system poorly equipped to date The researchers in the working group of the Leopoldina - National Academy of Sciences, the Berlin-Brandenburg Academy of Sciences (BBAW) and the German Academy of Engineering Sciences acatech have come to the conclusion within the framework of their scientific analysis of predictive genetic diagnostics, that there are still considerable deficits in Germany. Bonn's human geneticist, Professor Peter Propping, for example, considers the German healthcare system to be insufficiently equipped for predictive genetic diagnostics. "Our health system is in need of change at this point," the specialist told the "Mitteldeutsche Zeitung".

Early diagnosis increases treatment options In general, the earlier a disease is recognized, the higher the treatment options. Preventive medical check-ups are an essential part of our health 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 possible diseases can be identified at an early stage as part of a genetic analysis - sometimes long before the actual disease breaks out. Appropriate medical precautionary measures can be initiated before the outbreak of the disease.

Physicians from different specialties should cooperate. The prerequisite is that medicine has already scientifically proven the connection between certain genetic dispositions and the occurrence of corresponding diseases. In this context, Prof. Propping emphasized that genetic changes, for example, increase the risk of colorectal cancer, but at the same time there are indications that the changes also increase the risk of other types of cancer - so far, however, only the bowel has been regularly examined medically. For "the diagnostics and long-term care of these patients, we actually need centers that have an eye on all these diseases," explained Prof. Propping. In its opinion on predictive genetic diagnostics, the working group also criticized the fact that doctors have so far seldom worked together across disciplines. Prof. Propping, for example, demands that specialists from various disciplines should be gathered under one roof. "And because it is not just about early detection, but often also about treatment, it should be under the roof of a hospital - even when it comes to outpatient care for patients," added the Bonn geneticist.

Many diseases genetically determined The members of the group on predictive genetic diagnostics emphasized in their opinion that the genes are often responsible for the occurrence of diseases and that mutations in a single gene are sufficient to trigger a serious disease. With some of these monogenic diseases, such as breast cancer, the method of predictive genetic diagnostics is already used today. Such a procedure is also suitable for certain forms of colon cancer or for the metabolic disease cystic fibrosis. However, the method has so far hardly been applicable to other diseases such as allergies, diabetes or cardiovascular disorders, which can be caused by geology in many ways, since medicine has not yet analyzed the direct relationships between genetic disposition and the occurrence of the disease. The extremely complex interplay of genes and environmental influences, which is crucial for the development of diseases and the severity of their course, still offers science a few riddles.

Predictive genetic diagnostics for individualized medicine However, with the ongoing decoding of genetic risk factors, predictive genetic diagnostics will not only be used in the future for monogenic diseases, but also for complex diseases such as heart attacks or diabetes, the researchers hope. Science is currently making great strides here and, in addition, analyzes of the entire genome of individual patients are becoming easier and cheaper, so that the researchers believe that widespread use in healthcare is conceivable. In this way, the risks for each individual patient could be determined individually. According to the researchers, the adjustment of medication to the genetic profile of the patient would also be conceivable. In its opinion, the working group came to the conclusion that predictive genetic diagnostics, in spite of the inadequate application to date, can in future form an important building block for individualized medicine in Germany. (fp, 11.11.2010)

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Photo credit: Christiane Nill / pixelio.de

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