Now lets see a bit of that power smile or. Is our health predetermine from birth 5 years ago young i was diagnosed with a genetic brain defect i was so down i could only see the bad side of everything and i felt really sorry for myself or like doctors told her that her several column is shrinking. Can be a burden i came to terms with it i said ok so youre there but now im in charge again if i knew. What impact can we have ourselves and how much is determined by the genes our parents passed on to us our character and constitution but also our predisposition for illnesses such as on timers Heart Disease and cancer. Human geneticists are discovering a growing number of risk genes but how much do we want to know now that we have modern d. N. A. Tests that have come to your neighbors house to perform analyses that would not have seem possible 5 years ago its fantastic this is why we are discovering such an incredible. Mt right now its considered catlin discovered a lump in her breast a subsequent analysis revealed that she has a cancer gene. Had and i had an 80 percent statistical probability of developing cancer at some point in my life and no matter how healthily mindfully and harmoniously i live my life that probability would not get any smaller. Diagnosing disorders in our genes that have already developed is one thing but modern genetic tests promise far more they can calculate the risks we will face in the future even if we are healthy for the time being. What liabilities are harbored in our genes and how much do we want to know about the risks they pose. Knowledge that determines how we live and how we might die. The downside to Genetic Research actions is that they can make the patient become fixated on a future development that may never happen. In mine alternately nobody can project my future it. Yana our lives on the German Island of her fate seems to have been sealed by her genetic makeup she has a hereditary disease that is causing part of her brain to teach generate. When. You lose all of your motor skills that means the ability to walk or to talk or to pick things up live. In just because i now permit myself to get angry sometimes i had a fall this morning and really hurt myself that thats how things are its just my dog. I know. Im. Hit i wrecked my glasses her friend an optician is always there to comfort her after a fall. Where she cannot help yana today his with her glasses which are history and. Yet his condition is progressive the diagnosis was a shock. I was terrified because initially the doctors couldnt say how rapidly it with progress this is they were talking about wheelchairs and ending awfully. And that my Life Expectancy would no longer be the same as that of a healthy individual. So how long could she live how long will she still be able to talk and move around before she loses all of her motor faculties yana has a genetic predisposition for the condition which went unnoticed for the 1st 40 years of her life. After starting out in the restaurant trade she retrained as an image consultant and etiquette coach always demanding perfection of herself her final career move director of an apartment house while also being a single mother. She worked up to 60 hours a week continually pushing herself to the limit. Just say this disease normally arises in elderly people i was too young but when you permanently exceed your mental and physical limits eventually youll pay the price. And. The young to ignore the initial symptoms of her illness from lapses in concentration to spells of dizziness she attributed everything to her growing workload. That one night after another particularly stressful day swerved to avoid an oncoming car and drove into a tree was. Gonna survive the crash more or less unhurt but then a doctor discovered some odd symptoms. Asked me to walk along a Straight Line i tried but couldnt but. I had to stand on one leg he stood right next to me because he guessed what might happen and when i tried to stand on one leg i fell over. What doctors did not guess at that time because of no Family History of her condition was that it was inherent in her genes yet i went through the full gamut. Of consultations and examinations until finally a costly genetic test performed as part of a study provided answers to how and i have a gene mutation that was previously unknown my age and my parents each have both the sick and the healthy chromosome clues on the guy and both my father and my mother passed the thick one on to me so from the. How many unknown risks do we carry in our g. s and how can we identify them our genome is comprised of 3200000000 blocks of d. N. A. How can we picture that number 3200000000 grains of sand would fill 20 small buckets but only one percent of our d. N. A. Just 2 handfuls of sand varies from one individual to the next determining our specific size and shape our character and our propensity for illness and its this one percent that human geneticists concentrate on it is hidden away spread across the entire genome the one percent is also the key to potential hereditary disorders. Scientists have now identified over 5000 risk genes and are constantly finding new genes that crop up together with certain diseases coming we are currently making a lot of discoveries in human genetics there have been dramatic advances in molecular genetic analysis in recent years and thanks to these new technical possibilities we can now conduct analyses that would have been unimaginable 5 years ago. The mapping of a complete human genetic code less than 2 decades ago cost billions of euros today the price for the same procedure is just a few 1000. 00 and it will continue to fall as a result analyses are being performed more frequently in turn leading to the discovery of more suspicious gene mutations and then. When we find something we can check databases for other patients with changes in the same gene. And we might find 2 or 3 others somewhere in the world who have that same disease. We can then be identify this gene as a disease gene for a particular condition unconquered so thats pretty exciting. Just as every patient is different so too is every gene mutation not all identified me taishan affect health and development a mutation may be harmless researchers need a large number of patients with the same mutations and same symptoms before they can identify a suspicious pattern today there are databases containing millions of genetic profiles of sick and healthy patients compiled by universities Human Genetics Institutes and private sector companies. The databases are an invaluable treasure trove for professor. Hes part of a Younger Generation of human geneticists whose work revolves around big data and his approach has been successful he and his team recently identified new links between 33 genes and epilepsy. But how dependable are diagnoses when a subject is healthy like professor. I dont intend to sequence my entire genome because i know how often we find ambiguous results. Of us in the case of certain changes we come across we cannot say with absolute certainty whether or not there is cause for concern. And if i dont have a specific query on a specific illness. And i then find ambiguous results in some genes that might lead to something then im just creating insecurity. Every individual has genetic variants that can make them ill and in most cases they only find out once they do become ill cats one was 35 when she felt a lump in her breast tests revealed she had cancer. Again i dont often hear phrases like a high risk patient and its growth is aggressive and ive had a Pretty Healthy lifestyle i didnt smoke and still dont these are all factors that indicate that the illness could be genetic. Without this test i very probably would have developed a new chuma and might not be here today. That i had to go. As a death and sometimes when im having a bad day i remind myself im still alive thanks to modern medicine. Patton grew up in leipsic after graduating from college she spent some time in britain she was living in berlin when she became seriously ill she had the gene test done during her chemotherapy catton has the b. R. C. A. One gene mutation the faulty gene publicised by angelenos or the like the actress catherine had a double mastectomy to remove both breasts including the unaffected one to minimize her risk of developing cancer but this mutation also increases the likelihood of developing over there in cancer. And id still say your breasts you can cut off but its a much bigger deal if its in your abdomen. At one point a doctor said thats not something you can just have checked for. If its detected during an examination then its probably too late which is why a lot of doctors told me the ovaries have to go and i thought no im not ready to do that yet there it would be another part of me id have to let go of i am the human being behind these statistics im not just a name or a subject in a study im a human being with feelings dreams and expectations. Within and once youre in with a. Cat one wants to keep her ovaries for as long as possible shes afraid of surgery and of going through menopause as a young woman because hormone therapy is taboo for b. R. C. A. One carriers she wouldnt be able to treat accompanying symptoms intense hot flashes and total hormonal imbalance caton already had such symptoms during chemotherapy she got through it with her roommate support that he was such a strain to eat anything in the morning during chemo. When it got really bad id have a little pillow here. That might sound cute but when i thought something id have to put my head down and take a time out right here at the table i just didnt have any energy. Figuring out the right thing to do is a precarious balancing act recently cotton had her fallopian tubes removed in the hope of reducing the risk of ovarian cancer. If its genetic its never gone for good and you always have another examination coming up or another big decision in with us. Thanks to genetic diagnosis people have access to an unprecedented amount of information about their state of health but how reliable is this preview of our own future and how does it affect us. One of the specialists in this field is on the Teaching Staff here at the university of applied sciences in emden in north west germany cilia some ascii has conducted research on the dilemma facing patients when they find out about what their genes might have in store for them. The primary focus for me was on the new way that individuals are expected to make decisions that friends are over lets directly speaking there is no right decision to make when all youre doing is choosing between different risks. Its basically a new form of gambling basing your decision on a lottery. The sociologist published her observations on genetic counseling and its social consequences in a book called the decision trap what impact does the information have on patients and can it be too much so america has also studied human genetics and analyze d. N. A. In the lab she says genes should not be equated with destiny. Is good and we see could be you know when were talking about risk genes a specific change at the d. N. A. Level can be a trigger but not necessarily. It might lead to a change whether visible or clinical i think can but it also might not i dont think bar on a clinician or any orders can go a person may have a severe mutation the and still not get the. That c. On one platform he conquered only a fraction of mutations are certain to lead to disease in most cases its a question not of certainty but of probability 20 percent or 60 or 80 even with identical twins carrying the same mutation one might remain healthy geneticists still dont know why. For professor there is little ambiguity in genes which is why he calls them disease genes and not risk genes for him its just a question of time before a person with a serious genetic defect gets sick anything else is a rare exception melanies survived an aggressive form of intestinal cancer she underwent chemotherapy radiation and extensive surgery which included the creation of an artificial rectum hes been sent to us from nuremberg due to a suspected hereditary form of intestinal cancer. My father was born in 1957 he also had bowel cancer 10 years ago and cancer in his lymph nodes lived wasnt this is how old was he when he was diagnosed with color rectal cancer a mystery must have been around 50. So it all the. Just before the age when you get preventive treatment when the lymphoma was immediately apparent and the intestinal cancer only after i urged him to have a colonoscopy due to the likelihood of a hereditary risk. And then they said it was too late they did remove something it turned out to be a lie and. Also with my parental grandmother is now dead she apparently carried on smoking right up until the end and never had cancer. But her mother probably did. Were all. Do you know what kind is that as far as i could tell it was intestinal but i cant say for sure but theres a significant history of cancer on my fathers side. Ok rectal cancer is one of the most common forms of cancer genetic counseling also looks at the patients Family History if relatives have been ill it makes sense to perform a genetic analysis. That means if there have been several cases in that family or individuals who became ill at a young age then we have to ask whether its perhaps a case of regular old age related cancer or indeed you to read to terri factors. In your case you were 35 when you became ill. And your father developed cancer when he was around 50. Percent of cases occurred well before the average age for the onset of age related to colorectal cancer. But i have 2 children which is why im here i want to know whether they might have a genetic predisposition and at what point it would make sense to have them checked. If that doesnt happen until theyre 35 like i was then it will be too late by then the horse is already bolted id like to ask what age would be advisable 152025 for. I just want to minimize the risk for my family. Thats if we can answer tame this patients predisposition with 100 percent certainty from a genetic test then its very likely that she will have inherited it from her father. And as i mentioned earlier there will be a 50 percent chance in each case of having passed it on to her daughters but it could be that both have inherited it or neither have one has and the other hasnt. Capital melanie had to formally sign an agreement for the genetic test as is required under german law her daughters cannot have the analysis done until they are 18 since hereditary bal cancer does not develop before adult hood tests on children are only permitted if they already have a disease of unknown cause. I think genetic testing will become increasingly Standard Practice and become increasingly comprehensive with a relatively sure that at some point it will be Standard Practice when performing a genetic analysis during childhood to examine the entire genome rather than just look for one or 2 specific genes or conduct a test. Is going to. Let him out eventually become routine for newborns to undergo a complete genome analysis just like with newborn screening and for that data to be stored on a smart card or to program. Eventually perhaps but not yet in germany people have a right not to know the results of genetic tests but can that information be concealed when a hereditary condition has been diagnosed in an individuals family and what impact does knowledge of the risk of future illness have. With her rare condition yana still has to go about her daily life the 1st thing she thought about when she was diagnosed was her child and my son was 12 and i started to panic i was terrified my biggest fear. Is that my son might get it because genetic means hereditary. But human geneticists have assured her that the probability of her son developing the same disease is very low yanna herself inherited the genetic defect from both her father and her mother and its only in combination that the mutation leads to illness hers is a rare case her son is protected by his 2nd most likely healthy paternal chromosome. Then there have been the coke but if he gets married and at some point plans to have children then theyll have to take my results to a Human Genetics Institute and get themselves tested. This is the way the world is headed anyway with the eventually we will only have genetically flawless people being born. Month but he should get himself tested and. At the us. For now its a subject they dont talk about at home and the other wants to spare her son now 17 unnecessary worry about risks and probabilities he. Told her. I am watching him. And you are what you think. By now force this information on my son that he might get preoccupied with it and then theres a high probability of him getting some pseudo disorder so im not going there with scientific studies have shown that merely worrying about a disease can make you ill like the placebo effect except it works in the other direction if we expect to get sick we can develop symptoms a medical prognosis can change how we see ourselves and others. And i mention test when you test a person you what weve glean at least potential information on their family members to. Decisions are never taken in isolation and they always include relatives and especially when theres a genetic factor there will always be other people potentially affected. The diagnosis of a genetic illness is a shark as much to an individual as to their family members catlin has come to light to visit friends and her parents when she found out that her Breast Cancer was genetic it unleashed a series of questions who did the mutation come from until then thered been no known history of the disease in her family. Her mother then also had herself tested to find out whether she could likewise develop cancer. Right there it was a very staid and boring appointment just terrible. And i still remember how afterwards we went and bought some sunflowers of and then. I might have had something to do. I wanted to know who was responsible for illness whether it was me or my husband of course you cant blame anybody and they cant do anything anyway and i had the test done and was then a little bit reassured. But for country im so dreadfully sorry for her. But theres nothing one can do. Anything for 10 days you were cranky and really angry. I was a cranky it just hurts so much to know that we passed it on to your culture and at the. Time i could have dealt with a lot of other things but why this being. The legacy of extreme leigh rare cases the mutation is not hereditary but arises spontaneously normally if the mother does not have the Breast Cancer gene then it must come from the father twins has refused to undergo a genetic test. Its kind of like can understand that because then you have it in writing and theres no denying it if my father says hes now so old anyway and doesnt want that that i have to accept it. Were cancer genes are involved patients in germany are provided with screenings and preventive surgery most hereditary diseases however are incurable now scientists in gene laboratories are using d. N. A. Scissors to directly intervene in human cells with the hope of repairing them. Before we get a lot of emails and letters from people with genetic diseases asking us to help them far more. Truth of the person but we cant yet because the technologies we are developing still have to be tested in Clinical Trials and this is done with really good sense of. Were still far from finding a cure for all hereditary diseases but what professor who holds and his team can do is astonishing they took cells infected with hiv and completely removed the genome that had introduced the virus so far that work is limited to animal experiments but they. Progress is the sensation for the Scientific Community d. N. A. Scissors have prompted the kind of excitement that surgery want stayed in the 19th century to stink it has to give these musician on the surgery it as its often call could assume a similar important im going to predict that 50 years from now well probably see is many people undergoing genome surgery as the conventional kind professor boo call to its team aims to find a cure for hemophilia using cells donated by a boy who has the hereditary bleeding disorder the scientists are well acquainted with in mutation in question its caused by a piece of d. N. A. Being the wrong way around and as a result in possible for cells to read this prevents them from forming a particular clotting factor thats needed for a womb to heal we can all this is really kind of line is no this is this is what we have a centrally created is an enzyme the can correct this by turning the piece of d. N. A. Back and the right direction on or starts off of of us we hope that we will be able to implement this an actual treatment of was miss will take time of as we know from any other drugs that already exist tom in you have to proceed very carefully with a limited number of patients and see whether there are undesirable side effects for all that were doing this is the very 1st time that these new technologies are being tried out so we have to be careful researchers are altering cells im a lab the next step will be animal testing only later well they move on to tests on humans if successful a team of feely ak would no longer need medication even if they would still pass on the genetic defect researchers would only be able to completely cure the disease if they could alter the germ cells from which humans develop in germany this is prohibited by the embryo protection act human kind on to be trying to change future generation its all and that raises problems therell always be a danger like with Nuclear Energy or the atom bomb. You then have those kinds of weapons or some other new technology you can use them to do good of course to do something not so good. Intervening in human genetic lineage is for now considered too risky. Any changes to the genetic material in a fertilized egg cell would be irreversible this edits would not only affect the patient in question but also all of their descendants and that on a wider scale would mean changing humankinds genealogy with unforeseeable consequences and dangers how those altered genes would interact with other sections of the genome is still completely unknown territory for researchers. He does not believe her genetic defect will be cured. She has her own answer to the illness just living with it. I dont see it as my enemy anymore. Ive come to terms with it i do my Occupational Therapy and my yoga i enjoy my life and i think thats the best form of therapy. No wobbles im so proud. My speech has really improved my my just out here on my feet with. If i am now able to walk along a Straight Line. I can now do this test my finger used to go all over the place agreed to everywhere but not on my nose. My neurologist are thrilled that. Occupational therapy physical therapy and to date Speech Therapy every week yana undergoes a mammoth program to maintain her motor faculties for as long as possible as a voice and i have trouble finding words like yesterday so lets roll the dice. This is an exercise to counter anomic aphasia a difficulty retrieving words yana has to create a word from the letters the dice throw up a complex task. But once she masters. All who. Had thought. About. Their bottom. Oh yes. The neurologists talk about statistics and that and i then say that Means Nothing when you have no idea how the illness is progressing. All you have is a couple of 100 people across the entire country and then you produce your statistics from that. That no way i dont buy it. Can we shift the statistics in our favor catalin also undergoes a tough workout regimen at least 3 times a week designed to prevent a relapse shes now part of a study that aims to prove that exercise and a mediterranean diet can help the risk of recurring tumors. It isnt he thats the hope if you eat healthy food and exercise regularly that practically has the same benefits as the chemotherapy i did prevention so you dont suffer a relapse that means reducing stress doing exercise and eating healthily and bonds for being. There to make you my own contribution to ensuring that no new mutation develops thats the hope and i do notice i feel better. To spend the next victim. Researchers still have no reliable data on whether a mediterranean diet can also protect people with cancer genes from getting tumors 5 years after her cancer diagnosis patton has not had a relapse. Yet family in the i have an ultrasound scan done twice a year they just check if everything is ok and once a year i have an m. R. I. Because theres still some residual gland tissue and theres still the danger that something might develop. Their appointments that are always emotionally charged i didnt. Catch one tries to ensure her daily diet includes 4 spoons of all of oil fruit vegetables and plenty of fish as is common in mediterranean countries. Be up by. A look at. What role to our genes play or lifestyle. Stefan is an architect and has a keen interest in understanding his body with that in mind he recently joined a long term study called narco. Not cool. Is the mark of foodie folks cant. Use it can indeed do. Fact i already knew about the study from a friend of mine because hed been selected himself he raved about it. So when i got the letter saying id been selected i knew i had to do it. He was one of 200000 people selected at random. Stefan has a scan done every 4 and a half years and gives the study organizers personal data from his Health Insurance company as well as regular updates on his eating habits all on a voluntary basis. This test your sense of smell. From shoe leather residency and pins for every line. For. Expansion to salesman its nice to see the individual treatment i get and how they give me a comprehensive chank from my gut feeling i feel Pretty Healthy but of course theres always the possibility that the results might prove me wrong. Stephan is currently in the best of health but the survey will continue for at least 30 years the genetic material from his blood now in deep freeze storage will be available for future research. In about. A months months or. A half by minas our. Gut says your situation off the bat we have been in for a lot of these are 2 different few dimension concrete and convicted your beat is creeps and hurts in fact done. For it if you are thats overkill and a poor name. Because youre bored on frog modelling then mark unimproved the good news about its future for standoff it is a quarter of the survey is the biggest Population Based study to date in germany is critical voices in the Scientific Community are a small minority for professor cilia some ascii studies like this could revolutionize the medical world as we know it. So. You have to think really hard about what it means when you tell me i could get cancer in 5 years time or cardio vast. Or disease in 10 years. Thats just a could a prediction based on statistics on but im identified as a risk carrier and im supposed to behave accordingly in 5 people generally get treated when they fall ill in the future scientists will be able to identify a growing number of risk factors even in healthy individuals leading to everyone becoming prospective patients. Put in tears in the early potentially we all carry risk factor of and there is also a strategic aspect to this type so its possible to earn money by defining people are sick and in need of treatment counted if union or 150 to different. If the starting point for a medical need for treatment is no longer the patient feeling ill but risks that can be ascribed to people which will increase the more studies you do. Then soon everyone will be a patient. But. Are we in danger of creating a Health Care System that has us under permanent surveillance and on constant alert based on probabilities and not certainties. Thats about all cancer patient its important for melanie to monitor her health a few days ago a screening showed she had no metastases shes now waiting for another test result. Of his people would be great not to have this genetic predisposition meaning i simply got unlucky and would not be passing it on to my children. Is the risk there too is a 5050 but i got the wrong 50 for the move so i do have mixed feelings new. This in chemistry if you lou. Its harmless and melanie is about to find out whether she has the predisposition for bowel cancer. Or if the cancer developed by chance. From britain and lets start with the results. We carried out an examination into the frequency of colon cancer genes and did not detect any mutations that would identify you as a carrier of a hereditary tumor disease. Thats great because its you know. Theres so we can now cross off a whole range of diseases from the list. You get this also means that we dont as such have any evidence that you have a genetic mutation that you could pass on to any offspring. Good. To have any questions not for now im just relieved its good it is such a relief. That. We can some might have been caused by bad luck or my lifestyle or Something Else but its not genetic not a known genetic problem at least. And a problem that isnt there cant be passed down. So thats good news. Melanie has been given the all clear for the time being. We can say now is that with the technology and the knowledge we currently have at our disposal we have not found any evidence of anything unusual but in a few years time it may be a quite different scenario thanks to further insights and advances in Genetic Diagnostics technology so why dont think of. Human geneticists can currently test for around 100 individual genetic mutations that lead to cancer what are known as mana janick diseases most genetic disorders however involve a number of genes these poly genic diseases are far more complex and difficult to identify for these to be discovered there would 1st have to be larger scale studies with more volunteers. It will be able to detect and show changes in a range of different people where you wouldnt expect them. That sense there is no such thing as a genetically healthy individual. Or you can do is break it down into individual genetic predispositions and say everything is normal with regard to a particular predisposition if there is a normal healthy individuals carry mutations that could lead to problems in their progeny. Catrin is glad that her cancer gene was identified with personalised therapy she might not have survived but for her both the treatment and gene diagnosis mean she cant have children. Having this genetic predisposition i wouldnt have wanted to risk passing it on but rather be a one way street and say stop this is far not id rather be the art who has fun with other peoples children and bringing my own kids into the world and then you better read. Catalan has learned to live with her genetic defect and the permanently higher risk of developing cancer again. There are moments where i think why did i have to have double bad luck. Getting cancer in itself was bad enough but then you into the water which is no help it only makes me angry so i just accept it and move on like the years. I was and i planned my life one year at a time as for later lets see what happens im going to take things as they come and. Yana is not resigned to her fate either despite her serious genetic defect. Of course im scared and but there are different types of fear. A fear that eats away at your mind and soul and a fear that protects you from making unwise decisions like i dont i have that natural fear not the one that torments you. When you look at the camera going on of course now lets see a bit of that power smile when it comes but donna has a lot of plans today shes having professional photos done for professional reasons she gets a pension but still works as an etiquette coach to the amazement of her doctors. Ive just decided that were going to do this again every couple of years and its for me but because you never know. When it will end up in a wheelchair. Then youre all just say yes i say no. Thank him as i dont want a selffulfilling prophecy if im constantly thinking about possibly ending up in a wheelchair or dying and then it will happen. So instead i imagine being 70 and still Walking Around elegantly with my cane and covered in bling and everythings going to turn out fine when i was there for. The other missing back in the. You got. The big Midterm Review hard to. This time the interview the record holders and their selfproclaimed challengers. Hire new endorsement. Of their team lived up to their expectations what are they doing wrong whats left for these 2 giants of the world to see got. To go. 90 minutes w. You know nothing compared to the jim well i guess sometimes i am but i stand up. When that happens think sneakin for gemma culture looking at the stereotype the question but if you think the future of the country that i know a long time. Yet needed seems we think his grandmother. Delete because its all about a new i might show join me to meet the jetman sunday w. Post. In the un climate change. Or civil. Suits me soon people. Want to do years today the future of. G. W. Dot com for negative against the multimedia. Click it or. Shut. Up. This is deja vu news live from berlin calling for the clerics to go anger is growing in iraq after the government admits it shot down a passenger plane by mistake protesters say the countrys religious leaders must step down also coming up. First say the volcano in the philippines could erupt at any minute poor and