A short, vigorous and brave visit to the unknown realm of genetic tests, physical scans and other advanced diagnostic methods - the future of medical diagnosis.
Michael Rosenwald
The year is 2015 and I want to introduce you to someone. Her name is Betty. She is 25 years old and healthy, despite some uncle with heart problems. Her doctor suggests that she check her genetic sequence. Betty fears that if the results are not good, the insurance company will cut her off, but Congress finally prohibited, by law, such discrimination. The results are indeed not good: they show three different versions of genes known to increase the chances of having a heart attack fivefold. Betty and her doctor immediately start a prevention program that is of course based on diet and exercise, but also on drugs specially chosen to affect her genes. 50 years have passed. Betty doesn't notice any heart problem, but one day she starts to feel pain in her arm. I worked too much in the garden, she thinks, but a quick look at her medical file is enough for the doctor to understand that it's not gardening. He diagnoses a mild heart attack and puts together a treatment that is customized for her. Betty continues her life into the 22nd century.
Today, in 2005, Betty is just a dream. She embodies personalized medicine, a creation of Frances Collins, a scientist from the National Institutes of Health who took part in mapping the human genome. Mapping the human genome has given scientists a complete picture of our genes, including the small defects called "SNPs", single nucleotide polymorphisms that occur in all of our DNA. Some of these disruptions are harmless, but others, when they interact, create instructions that cause some of the most serious diseases: cancer, heart disease, diabetes, Parkinson's, schizophrenia and much more. The task assigned to me is to undergo every possible medical test to predict what will happen to my body in the next 5, 10, 15 years.
Proponents of personalized medicine say that accuracy in the field is only one of the obstacles in making genetic-based predictive tests a part of routine medical examinations. The Ministry of Health exercises very little supervision or does not supervise at all the official documentation of the testing procedures or the portrait, or even the manner in which the DNA of the subject must be secured. None of the companies I performed the tests with were recommended to me by a doctor, I did my own research, I checked the reputation of their labs and made sure they were run by qualified geneticists. And yet, as far as I know, one of the laboratories that has my DNA can plant it at a murder scene right now. Beyond that there is the issue of insurance: few companies pay for the genetic tests. Although the Senate passed laws prohibiting discrimination due to the results of genetic tests of insured persons, the House of Representatives has not yet aligned itself. I just hope my insurance company doesn't read this…
Entering the imaging device
I'm sprawled on the couch in front of the TV. In the television show that is being broadcast now, the guest is surgeon Mehmet Oz, director of the Cardiovascular Institute at Columbia University Medical Center. And talking about the controversy surrounding a full body CT scan, a test like the one I'm scheduled to undergo next week. Hundreds of clinics now advertise the scans as virtual medical examinations, offering us peace of mind knowing that our organs have been scanned for structural abnormalities. Other clinics warn that the scans also expose people to high levels of radiation. Indeed, it has been proven that a CT scan of the whole body in middle age carries with it a 1:1200 risk of dying from cancer.
In the week preceding my CT scan, I required other diagnostic methods. Apart from using our genes to see which diseases nest among us, the scientists are interested in using them to personalize treatments. Since drugs affect each patient differently due to their different genetic make-up, biotechnology companies develop tests that will identify which drugs will work to their full effectiveness on each and every one of us. The biotechnology giant "Genentech" has developed "Herceptin", a breast cancer drug that is intended for a quarter of the patients who have too many copies of a gene called HER2. Tumor cells that have too many copies of the HER2 gene produce an excess protein that encourages increased cell division and faster growth. Doctors look for the malfunctioning of the HER2 gene using two tests approved by the Food and Drug Administration, and if it is found, they give Herceptin.
I came for a diagnostic test at the world-renowned clinic 'Greenbriar', which provides its services mainly to managers whose companies have a personal interest in preventing them from suddenly plummeting to the ground. At Greenbriar, for example, there is a "Philips Brilliance CT 16", which is one of the fastest CT facilities in the world, capable of scanning the entire body in 30 seconds and photographing the heart between beats, a means of detecting small pieces of sediment that will eventually cause blockages. However, the personal medicine of "Greenbriar" precedes the CT scans. The guiding principle of the clinic is, in fact, to locate the problems before the symptoms arise. This is a principle that, in addition to the use of advanced technology, requires the careful attention of a doctor. It succeeds where patients can bypass the limits on preventive medicine for $950 for a full body scan by credit card instead of wire transfer. But here also questions arise that none of the supporters of personalized medicine are willing to deal with: How will people be able to afford medical treatment with the new method? Will the insurance companies transfer payments from treatments to preventive measures? Or will only the regular customers of 'Greenbriar' benefit from modern medicine at its best?
The computer simulation
My examination begins with an hour of conversation with one of the ten doctors in the clinic, he questions me about my medical history before he takes me into the examination room. But here the resemblance to a typical medical examination comes to an end. What's amazing about this place, I discovered, is that it houses a huge variety of medical specialties under one roof. A paradise for hypochondriacs! And so I find myself doing things I've never done before: I sit shut up in a soundproof booth while a technician checks to see if I'm suffering from early hearing loss, I get an EKG, a test people don't usually get unless they have chest pains, I breathe Into the plastic tube of the spirometer that tests my lung capacity, a measure that can indicate asthma or lung disease, and I lie on a hard mattress, staring at stickers on the ceiling while an arm of weak X-rays scans my bone density. Fortunately, I'm only 30 years old: in the next 20 years I trust that science will find a better method before the passionate proponents of personal medicine recommend colon catheterization; They took blood from me three times so that there would be a sufficient amount for the liver, heart and lipid tests. In addition to separating my cholesterol measurement into HDL ("good") and **LDL ("bad"), the doctor plans to send a blood sample to the Berkeley Heart Laboratory, which a few years ago became one of the first private laboratories in the country to offer a more in-depth analysis.
Between the various tests I sip bit by bit about five glasses of a bitter substance like wormwood. It is designed to illuminate my intestines on the computer monitor during the CT scan of my entire body which will give me a dose of radiation equal to 100 mammograms. I ask the doctor his opinion on the CT scan debate and he says he can understand both sides' arguments. He tells me about a healthy patient who had a history of stress tests and an EKG. Normality - not an obvious candidate for any scan. But when the machine scanned his heart and photographed its contraction, it could be seen that the arteries of the person being scanned were dangerously calcified. The man who was very close to losing his life, received treatment and was saved. I was convinced.
A nurse helps me position myself on a bed that slides me into the scanner and injects an even brighter substance into the vein. I lie motionless and close my eyes. While the bed moves back and forth and allows the camera to aim at each of my limbs, I think: "Now, once and for all, I'm really going to know if I'm the walking dead." It's the waiting that kills me. I'm sitting in my doctor's office waiting to hear news about my genes. "Kimball Genetics", a small laboratory from which I ordered several tests, according to its procedures, sent the results to my doctor. I've been waiting for over an hour, pondering my bleak future. And what if I carry the 'Ty-Zachs' mutation? I'm Jewish. Jews carry 'T-Zachs'. If my wife had carried it and we had a child, he would have had a 25% chance of developing the disease and dying a horrible death - first of all losing his sight, then his hearing, and then his ability to swallow. And what if I carry an ovarian and breast cancer mutation, which increases men's chances of getting prostate cancer by 12%? If I had a daughter, her chances of getting this mutation would be 50%, placing her at a 54% risk of ovarian cancer. God, what have I done?! Who really wants to know all these things?
The image of the heart between two beats
The nurse calls me in and I wait a while longer. My doctor comes in. She sits down and quickly goes over my genetic test results. "Well, you're not a carrier of 'Ty-Zachs'," she says. "It is good". "Well," I say, holding my breath. "You don't have anesthesia." It doesn't really surprise me. She continues: there are no understandable dental diseases. HLAB27, a gene associated with inflammatory disorders, is negative. Apo E, causes coronary heart disease, negative. Suddenly I think I've been tricked. "These tests are a bunch of bullshit, aren't they?" "No", she answers. They are reliable. Everything is real." She turns another page and says, "Oh, that's interesting." It turns out that I carry one of two genetic mutations that are needed to develop hemochromatosis, an iron storage disease in the body that destroys the liver. But the chances of me developing the disease without the second gene are small. Nevertheless, the doctor asks me to come back in a few weeks to check the blood products and see if I have too much iron.
A few days later, the company "DNA Direct" informed me by email that the genetic test I ordered has been completed and I am welcome to enter the company's website at any time and see its results. I do not have thrombophilia, a disease of blood clotting. I was relieved. The next day my cystic fibrosis results came. I entered the site. Negative. Through "DNA Direct" I also did the test to detect the mutation that causes prostate cancer. DNA Direct believes that people should not be told if they have cancer on the Internet - and at this point in my odyssey, I agree with every word - and therefore a genetic counselor gave me the answers over the phone. "Come on, what's the verdict?" I ask. "Your tests are negative," she says. Life is Beautiful.
I told Dr. Graves from Greenbrier everything when we went over my test results together. He was pleased. I asked if "Greenbriar" would one day offer these tests. He said he certainly hopes so. For the time being, it does not appear that patients are knocking on the doors of the clinic, but what is more important is that the tests that are available still cannot detect the types of common diseases that family doctors encounter on a regular basis. Such tests will only be in 5 or 10 years.
The author examines the results
Dr. Graves turned to my tests. My CT scans show an abnormal left kidney. You might want to see a urologist. There was nothing blocking my arteries. There were no tumors of any kind that developed in my body. I will not be able to forget his following words: "Your condition is good", he told me. "But there is just too much of you." I have 40 kg extra. My cholesterol is borderline. My sugar levels are teasing diabetes. I am a prime candidate for a heart attack or stroke. At that moment, sitting there in front of Dr. Graves, I had to face reality: until more in-depth tests are possible on the Internet, I am at the same point where I started this journey: fat. How convenient it was to ignore the fact that I could predict all my problems simply by opening both eyes in front of the mirror. Gene mutations do not predict everything. The body can be damaged by eating chips twice a day, eating wings twice a week, eating cookies for breakfast, and eating Chinese chicken most of the time.
The five-year plan - promising diagnostic methods on the way from the laboratory to your doctor's clinic:
The field: biomarkers.
The test: blood test to diagnose amyotrophic lateral sclerosis.
The technology: The disease can cause cells to produce excess byproducts, and scientists recently discovered that 13 of these molecules - called metabolites - are elevated in patients with Lou Gehrig's disease.
The results: When the researchers identify the metabolic characteristics of other diseases, they will create blood tests to detect Parkinson's and even cancer.
The field: holography.
The test: a blood test that uses the properties of light to detect infectious diseases such as pneumonia and tuberculosis.
The technology: you put a drop of blood on a sensor that is embedded in a hologram, a polymer film embedded with dots that break the light rays. If the desired bacteria are present, they attach to the receptors; The reaction causes the film to swell and change the reflection.
The results: Emergency medical technicians will use a handheld scanner to diagnose bacterial diseases in the field.
The field: nanomedicine.
The test: injection of tiny spheres (in nano dimensions) that trap - and eliminate - cancer.
The technology: antibodies on the surface of polymer spheres that are 50 nanometers in size bind them to cancer cells, while iron oxide in the cores of the spheres creates the contrast in MRI scans. These tiny bodies can destroy the outer membranes of cancer cells.
The results: cancer treatment can begin long before the tumors have time to cause damage.
The field: imaging.
The test: a scan that detects brain calcifications associated with Alzheimer's.
The technology: a synthesized compound called PIB, which binds to calcification in the brain, is injected into the blood. A radioactive isotope that attaches to PIB lights up in a PET scan and catches Alzheimer's before symptoms appear.
The results: Researchers can see if a new anti-Alzheimer's drug is indeed effective by monitoring the levels of the aggregated substance through clinical trials.
To purchase a subscription to Popular Science under special conditions for surfers of the knowledge site
They knew innovations in medicine
https://www.hayadan.org.il/BuildaGate4/general2/data_card.php?Cat=~~~375272081~~~25&SiteName=hayadan
