Medica2015_Mittwoch

DIAGNOSTICS ON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVEON THE MOVE Halle 9 Stand A14 Genetic Pattern A Tumour X with identical histology Genetic disease pattern A Genetic disease pattern C Genetic disease pattern C Genetic disease pattern B Genetic disease pattern B Genetic Pattern B Genetic disease pattern A WEDNESDAY @ MEDICA6 EH @ MEDICA No 3 2015 Seeing my genes changed some habits Good m ‘These days we have access to considerably more genetic information than previously available to us. For the individual, this can provide options for action towards leading a healthier lifestyle, or to try and prevent diseases,’ says Dr Theodor Dingermann, Senior professor at Goethe University, who has had his own genome decoded. In certain ways the result changed his life. Interview: Sascha Keutel Why have your genome decoded? Dr Theodor Dingermann: ‘I’m a molecular biologist and a curious human being when it comes to this topic. I also have a weakness for wanting to find out and document things about myself, and this includes genetic information. Apart from curi- osity, I also wanted to gain experience of new sources of information using a concrete example – and using myself as a test object lent itself to this.’ How is this analysis performed? ‘There are several options but they all have the same approach. I have also had several analyses carried out, the first by a company called 23andme. com. I was sent a test kit with a small test tube which I filled with saliva and returned. I received the result a few weeks later in the shape of a homepage with a lot of informa- tion. At 1.2 million data points the information is so comprehensive - but also not commented on enough by experts – so, around two years ago, the FDA temporarily halted the com- pany’s activities. However, there has been an agreement on the amount and quality of information provided. ‘I provided consulting services to Humatrix, a company that offers a different type of genetic test. One of them – Stratipharm – makes state- ments on how the body deals, or is respectively likely to deal, with cer- tain medication. The statements are independent of whether or not the person being analysed is taking medi- cation when the analysis is done. ‘DNA is isolated from a mucosal swab and then 31 genes, the genetic products of which all have an impact on the effectiveness and tolerability of drugs, are tested for mutations. These can, for instance, be enzymes involved in metabolism, or transport- ers, utilised by active agents to enter or respectively exit the body. These proteins interact with drugs inde- pendent of the diseases for which the drugs are licensed as treatment. This makes it possible to correlate the mutation pattern of these 31 genes with the entire range of drugs licensed in Germany and to use the result to analyse which drugs could lead to problems if taken. In my case there were about 40 active agents that were unlikely to be effec- tive if taken.’ Where there other findings and ‘After more than eleven years of the G-DRG system the econom- ics approach is prevailing,’ Nicole Eisenmenger pointed out, when asked about the continuing exist- ence of the Reimbursement Institute, which she founded. ‘Today, the deci- sion to procure medical products is primarily based on economic feasi- bility. Reimbursement is the crucial issue that determines the purchase or non-purchase of a device, the use or non-use of a therapy.’ Hospitals employ medical control- lers to figure this out … ‘Exactly, and those controllers decide based on economic criteria. Medical what conclusions did you person- ally make? ‘The analysis carried out by 23andme showed that I had a 100% increased risk of developing Type 2 Diabetes. This may still be quite a small risk, no bigger than if I was overweight, but these risks should be taken seriously nowadays. I took it seriously indeed, especially as there were other indica- tors that hinted that I may well be confronted with a Type 2 diabetes diagnosis at some stage. I watch my diet a lot more and do a lot more sport. ‘My test also showed that I have a considerably increased risk of developing age-related macular degeneration (AMD). ‘Although the ophthalmologist did not diagnose AMD when I had this checked he actually found glauco- ma that needed urgent treatment. In other words: I have drawn con- clusions from the genetic test that are important to me and have also proved beneficial for me.’ All positive effects – so should everyone have their genes ana- lysed? ‘To the contrary, a test like this should not be taken lightly. One has to be careful how one evaluates this type of data for oneself. Mostly, we only focus on problems indicated by these tests, i.e. the increased risk of devel- oping disease x or y. However, such genome analyses don’t only show the risks. They also indicate parameters that demonstrate that an individual may be in a better position com- pared to the general public, i.e. has a lower risk of developing certain dis- eases. The greatest weakness of such analysis is that only probabilities are revealed, which a layperson will find difficult to assess. If you have even the slightest doubts as to how you will be able to cope with the results you should not have a test like this carried out under any circumstances.’ Therefore gene analysis will not become a standard test? ‘I wouldn’t put it like that. Currently, most genetic analyses are carried out when they are indicated in the context of cancer treatment. The tumour genome, which is different from the germ line genome found in all healthy cells, is examined for the purpose. ‘I imagine that analyses carried out to determine the effectiveness and tolerability of medication could actu- ally become a kind of standard. It does actually analyse the germ line genome – and the results are much clearer than those achieved in the analysis of health risks. Drug-related analyses can predict, with great certainty, whether an individual actually comes within the Gaussian distribution curve applied to assess responders for drugs, or whether they are likely to be among the non- responders for certain drugs. The same applies to the prediction of intolerability reactions. ‘Example: If the analysis shows that a statin cannot be metabolised cor- rectly then this will also show when the statin is actually administered. Or, it may come to light that an individual is unlikely to be able to break down a cytostatic drug in the same way as the general population because of their specific genetic make-up. ‘This is an extremely important find- ing as this patient must be given a significantly lower dose of the cytostatic agent to achieve the same effect, and respectively to prevent the occurrence of severe toxic problems that could arise with the administra- tion of a “normal” dose.’ Pharmacist Theodor Dingermann PhD graduated from the Institute for Applied Chemistry at Erlangen University and his 1980 thesis ‘Regulator Functions of Specific Transfer Ribonucleic Acids in the Development Cycle of the Cellular Slime Mould Dictyostelium discoideum’ gained a doctorate. His habilitation treatise (1987) focused on ‘Transcription Mechanisms of Eukaryotic Tranfer RNA Genes’. As Professor of Biochemistry and Molecular Biology he taught at the Institute for Pharmaceutical Biology, Goethe University in Frankfurt am Main, where, in October 2013, he became a Senior Professor. ONLY THOSE WHO CAN COPE SHOULD HAVE A TEST LIKE THIS Two individuals will principally differ regarding their germ line genome (genetic pattern A and B), which is inherited and therefore identically present in each cell of the organism. Therefore, information on the genome can be obtained from any cell. One must differentiate, however, between this and the genetic disease patterns that are only present in the cells affected by a disease. A disease which was phenotypic and physiologically clearly defined can definitely have different genetic disease patterns, which is something now attracting a lot of attention in the context of tumour treatment. These days, many drugs are only licensed for the treatment of very specific genetic disease patterns of certain diseases, ensuring the correct genetic disease pattern is present prior to such medication being prescribed. Whether they are wireless pacemakers or cath really innovative products must reach patients ensure that the hospitals that buy their produ treatment methods are not captured by a syst EH writer Holger Zorn spoke with Nicole Eisen Institute in Cologne, about the reimbursement instrument and regarding the lack of transpar MAKE A NOTE MEDICA EDUCATION CONFERENCE I looked into my genes and changed some habits – so could you / Prof. Dr. Theodor Dingermann, Frankfurt/Main CCD South, 1st floor, Room 15 Thursday, 19 Nov 2015 • 10.45 a.m. – 11.20 a.m. EH @ MEDICA No 32015

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