Release date: 2014-12-11
Many people know that Francis S. Collins is the chief scientist of the International Human Genome Project, the dean of the National Institutes of Health (NIH). Few people know that he is still a licensed doctor. Less people know that he is a writer. He published a review of The Language of Life: DNA and the Revolution in Personalized Medicine in 2011. According to the time of publication, he should have done it in 2010. I quietly reprinted it, and everyone looked at it quietly.
In the past few years, the rapid advancement of research in this area has enabled us to develop accurate and unambiguous identification of DNA mutations from the general observation of the genetic predisposition of those disease families. It can be speculated that these mutations are associated with many diseases. Therefore, these variations can be used to make more and more accurate predictions about a person's risk of developing a disease in the future. It is no longer only used for rare diseases such as sacral muscular atrophy, nor is it just for predicting breast cancer caused by mutations in the BRCA1 gene. At present, DNA defects found in leading laboratories around the world that may cause common diseases are influential, and there are no signs of recent depletion. Now, we've crossed a watershed in genetic testing: from the medical models that only apply to high-risk families—like the two cases in my family—to the era of genetic testing for almost everyone.
These developments are both exciting to the public and favored by the media, as well as Oprah's talk show. Some commercial companies are tempted to push the complex DNA analysis to the market: are you not going to be ill? Let's do our genetic testing! The information we gave has brought you a new era!
Among them, the 23andMe ("23 and me") company, which names the 23 pairs of human chromosomes, urges potential customers to "unlock the mystery of your own DNA today." One of its competitors, Navigenics, claims that their tests can "give you the power to take control of your health." There is also a deCODE company that promotes their testing services "to make your health decisions more wise."
At present, they can detect only one thousandth of the entire DNA molecule of the sample, but can get information about dozens of diseases and symptoms. These numbers will grow at a high rate in the near future. As we continue to interpret the mystery of the genome, new discoveries are made almost every week.
I have almost revealed the genetic condition of my own family. This knowledge comes from the doctor's diagnosis and professional testing. Every one of us can get this knowledge today, and we can get our DNA information directly. What can we tell us?
Ask yourself, in this new era of comprehensive DNA analysis, will I continue to use myself as a guide to the new era of personalized medicine, or is it more appropriate to treat myself as an outsider? Or should we desperately deduct a genetic version of "Six Pigs"? (The Full Monty is a 1997 British comedy film about the inspirational story of ordinary middle-aged men pursuing their dreams, regaining their self-confidence and dignity.)
It was not until two years ago that I finally realized that our ability to make comprehensive and meaningful disease predictions based on DNA testing is not yet mature. But now, this situation is undergoing rapid changes. Although I am very clear, it is too early to make accurate disease predictions, but I firmly believe that it is time to conduct research in this field. My daughters have grown up. Since such tests will also reveal things related to them, I have to discuss with them, and they all encourage me to "let go."
Of course, family history is a crucial guide. I am very glad that my close relatives are quite healthy - my parents have lived to 98 years old, and my three brothers are also very healthy and energetic. Therefore, my own possibility of illness in the future is difficult to see through the family. However, is there a hidden danger in my DNA that has not yet appeared?
In addition to being curious about my own genome, I am also very interested in DNA testing companies that are “directly facing customers†[2C], want to know how they conduct this business, and how to report test results to customers. Are their experiments working accurately? How do they turn DNA test results into risk predictions? Also, how do they communicate this information to the customer in a clear and unmistakable way, without causing others to be in the fog?
I decided to submit a DNA sample to each of the three companies that offer comprehensive DNA analysis services (and a considerable number of other companies, some of which are trustworthy and some that are not.) Do some specific tests for specific purposes). In order to be an ordinary customer and avoid these companies from treating me specially, I decided not to use my real name.
The prices tested varied widely: 23andMe's asking price was $399, deCODE was $985, and Navigenics opened Haikou for $2,499 (although additional telephone genetics consulting services were provided). The process of DNA extraction is also very simple: 23andMe and Navigenics want saliva, spit it in a special tube and send it to them; deCODE gives a swab and scrapes the inner wall of the mouth. All three companies are convinced that they must be kept strictly confidential. Each company has given me a password and must use a password to access their website. Although the differences between the three are very interesting, most of them are overlapping from the list of diseases they can detect.
23andMe first gave the test report, which took only two weeks. The deCODE company’s report was late, two or three weeks late. And Navigenics’s report has come out a long time ago, and it’s been seven weeks later (but strangely, they didn’t complete all the tests they said, and 7 of the 25 disease tests have not yet come out. ).
As far as I know, due to the obvious limitations of detection, it is very difficult to make accurate predictions. But when I entered my password on the web page to browse my test results, I still felt a little excited and nervous. In helping users understand the test results, each company's web pages are designed to be fairly reasonable, and they compare my own risk values ​​with the average. Among the three companies, I think 23andMe's website user interface is the most friendly.
The three companies' assessment of genetic risk is based on the same scientific literature. So in many cases, what they are testing is the same variation in my DNA sample. I carefully examined all the details in the report to find out if the specific experimental data is different. I am gratified that I have not found such a problem. Obviously, the quality of their DNA analysis is still quite high.
So what did I see from it? For those common diseases, I am very happy that my risk is below or equal to the average. But there are some notable exceptions: the reports of the three companies all mentioned that I had a high risk of type 2 diabetes (adult type), although the exact estimated risk was different. My risk is about 29%, slightly above average (23%). My chance of developing age-related macular degeneration is also much higher than the average person's average. Macular degeneration is a common cause of blindness in the elderly, and my aunt is blind in her 80s. In addition, I have a higher probability of having a particular type of glaucoma, even though the three companies say the absolute risk of illness. Not the same.
Of course, these are just statistics - there is no conclusive evidence that I will definitely suffer from these diseases, and these predictions do not take into account my family history at all. Although I am well aware of all the deficiencies of these tests, the test report immediately affected my perception of the future.
As a physician, after years of experience, I have been able to list a long list of general advice on health and good health, but I don't necessarily do it myself. Now that there is a specific threat to the risk of illness, I find that I have been paying attention to these aspects unconsciously. The test report said that my chance of suffering from diabetes was 29%, only a little higher than the 23% baseline, and there was no history of diabetes in my family, and my weight was normal, which undoubtedly further reduced my risk of illness. Despite this, I was determined to implement a long-term unimplemented plan, contacted a personal fitness instructor, and worked harder to increase diet. Because I know that this is the best way to prevent diabetes.
I looked at some recent research literature on macular degeneration and concluded that enough facts have shown that taking more protective omega-3 fatty acids is very beneficial in preventing this disease. Therefore, it is a good idea to add more fish to the recipe. Given my risk of developing glaucoma, I am also determined to have an eye health check every year, including measuring intraocular pressure.
Are these all I have to do? Maybe. But when we were bombarded by various health advices - eat more fish! Eat an aspirin every day! Drink red wine! exercise more! - We are not impossible, but at least it is difficult to remember to do so many things at the same time. Although the data is far from enough, the individualized genetic information disclosed now does provide us with a motivation to stay healthy by taking specific actions.
One of the risks I didn't take lightly was to take it. On the contrary, let me take it very seriously and don't know it – the risk of Alzheimer's disease. This is one of the largest genetic risk factors that have been identified, increasing the probability of illness by a factor of eight. Current medical research has not found an effective cure, and can only hope to use this information to prepare for the future. In addition, there is no credible evidence that we can delay or prevent the onset of Alzheimer's disease patients through diet or drugs. My family has no history of Alzheimer's disease, but when I decided to click on the mouse to read this part of the test results, I still feel nervous and heartbeat. Fortunately, the test results show that my risk of developing Alzheimer's disease in the future is lower than the average level, only 3.5%.
Other test results have also caught my attention. For example, in the test reports of 23andMe and deCODE, I mentioned that I have problems with the metabolic ability of the commonly used coagulation drug, coumadin. I have never taken this medicine, but my mother has been taking the medicine for several years. She is very sensitive to this medicine, so she can only reduce the amount to prevent drug poisoning. Sure enough, 23andMe’s report predicts that I will also be “more sensitive†to this drug. Curiously, deCODE, though seeing the same variation in my DNA and getting the same results, predicted that I needed a "normal dose" of the drug. This is a good reminder that disease prediction based on DNA results is not yet mature. These companies use the same scientific evidence, but unfortunately they did not make a consistent explanation. They urgently need to work together to solve this problem, otherwise it will make the public confused and disappointed with this test.
The most inconsistent test results of the three companies are predictions of the risk of prostate cancer. My father had this cancer in his later years, so when I received a report from 23andMe and found that my risk was below average, I was relieved. But the deCODE report that followed came predicting that my chance of illness was slightly higher than that of the average person. Navigenics' conclusions are even worse. They predict that my chance of developing prostate cancer is 40% higher than that of the average male (24% vs. 17% of the baseline). What is the reason for this?
In order to figure out what is going on, I have to delve into the details of these laboratory studies and successfully discover the problem.
23andMe detected only five known variants of prostate cancer risk: 13 were detected by deCODE: 9 were detected by Navigenics. Despite the considerable overlap in the DNA markers used in their tests, virtually none of the companies tested all 16 variants. When all the test results are in front of me, my self-calculated results are actually closest to the results provided by Navigenics. Therefore, the gratification that I just got from the 23andMe report quickly shattered one more disease that I must pay close attention to, that is, prostate cancer.
This is a very important revelation - this science has developed so fast that any genetic risk prediction based on today's understanding is likely to be modified by tomorrow's new findings. This applies not only to prostate cancer, but also to the prediction of the risk of other diseases – now it is only a vague image of the facts. This image becomes more and more clear as genetic testing improves and other key information such as family history, current health and DNA detection results are more effectively combined. Therefore, anyone in this industry must be prepared to constantly reassess risk based on new knowledge.
The most expensive of the three companies, and the most dedicated to medical applications, is Navigenics, which also gave me an opportunity to learn about my test results from genetic counselors. I pretended to be a customer who didn't have much professional training but was very interested in this, and had a call with one of their genetic counselors. The consultant carefully emphasized from the outset that she would not make any medical advice, but after discussing my DNA test report and the risk of prostate cancer, she strongly advised me to see a doctor. I expressed my doubts: my doctor may not know what to do with this genetic test. She told me that many doctors now call Navigenics for comments. I asked her if these predictions based on DNA will change in the future. She correctly pointed out that this information will be updated every day. If there are any improvements and improvements in my predictions, Navigenics will notify me by email. . Curiously, she suggests that the genetic risk factors for most common diseases will be discovered in the next two or three years. But as a scientist in this field, I think this is unlikely.
Another chapter in the 23andMe report is the carrier of disease genes. Being a carrier does not affect my own health, but it puts my children at risk. This may happen if their mother is also a carrier and they unfortunately inherit the defective gene from both parents. I found myself to be a carrier of two recessive adult disease genes - alpha-1 antitrypsin deficiency and hemochromatosis. The former can cause emphysema or liver disease, which can lead to the accumulation of iron in the body, which can lead to cirrhosis, heart failure, diabetes, and other serious diseases.
I had a conversation with my two daughters about these results, and apparently they were worried about the fact that these defective genes might be passed down from generation to generation in the family. Although we all know that this is true, identifying specific defects will make the situation clearer and my two daughters are ready to accept the test.
23andMe also provided some non-medical feature test results in the report: for example, predicting that I am wet ears (earwax is wet); I have the ability to taste bitter foods such as brussels sprouts; and other interesting features - But when I saw the report predicting that I had a pair of brown eyes (God testified, my eyes were blue), the limitations of this test are self-evident.
Both 23andMe and deCODE also provide information about my possible ancestors. I secretly hoped that my ancestors were exotic Africans, Asians or Native Americans, but the results were not unexpected - I seem to be quite pure Europeans, except for a small one on chromosome 8. The point looks like Asians.
This is my "light pig six strong man" experience, at least in the most typical of today's technical conditions. However, no matter who you are going to do genetic testing now, I am sure to tell you here: in the near future, everyone will inevitably do this kind of testing.
We are at the forefront of a real medical revolution that will transform traditional “one size fits all†treatments into more powerful individualized treatment strategies that treat each individual as unique and require its own specificity. Genetic characteristics to guide how to stay healthy. While the scientific details supporting these broad slogans are still evolving, the contours of this dramatic change are gradually emerging in our sight.
The analysis I participated in has tested 1 million locations in my genome, but this is only the beginning. Soon – it is expected that within 5-7 years – everyone has the opportunity to perform a genome-wide sequencing of 3 billion bases at a cost of no more than $1,000. This information will be very complicated and very powerful. A detailed analysis of your genome will provide a more effective assessment of disease prediction than it is today, and will enable the development of individualized preventive medical plans.
The first reaction of many people to this "foresight" is to say: "I don't want to know this. I think we should enjoy life, not worry." They may all agree with Sophocles. In the Oedipus script, the blind prophet, Tiresias, argues that Tirisias can predict the future but is doomed to fail to change it. Then he lamented: "If wisdom can't benefit people, then being a wise man is painful." But we are not as unreasonable as Tirisias. In many cases, genetic risk predictions bring us personal health benefits. As far as my own experience is concerned, knowing the mystery of my DNA can be a best strategy for protecting health and life.
Not only does DNA give us opportunities for better prevention and treatment, but research on the interaction between genetic and environmental risks also clearly identifies the important impacts of environmental change on our health, which will give people a better chance of Monitor and adjust our living environment to increase the probability of health or rehabilitation.
In the future, your DNA sequence may soon become a permanent part of your electronic medical record with proper encryption and will be used to assist healthcare professionals in prescribing, making diagnosis and disease prevention decisions. When you are sick, there are many treatment options for you to choose from, many of which are based on new insights into human genomics that are more effective and have fewer side effects than previous treatments. At that time, many treatments would be tablets, but there were also gene therapies. In this case, the genes themselves were drugs. There are even some cell therapies based on transforming the patient's own skin or blood cells into cells that are lacking in the patient, such as islet cells from diabetic patients, or brain cells from patients with Parkinson's syndrome.
There are many things you can do right now – start with a family history. But first, you have to be prepared to embrace the new world.
For a long time, we all thought that as long as we are not sick, we are healthy. Once diagnosed, whether it is correct or not, we will receive a standardized treatment. Affected by this view, the human body itself has been ignored unless there is a problem with a certain component.
Today, we have found that everybody has a lot of genetic defects that are inherent to them. The perfect human specimen does not exist. But our genetic defects are also different, so a treatment is often not applicable to all patients with the same specific disease. Not only is our medicine, but our fundamental concept of treating the human body is also changing.
The growing ability to interpret life languages ​​gives us a new perspective on health and disease. If you've thought about the most fulfilling and fulfilling life, now is the time to use the double helix to serve your health, and see what the revolution is going on.
Source: Knowing Causes
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