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-------------------- 2535 - HUMAN GENOME and your health?
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- It cost about a dollar per “ATGC” pair. In the stream of the genetic codes there are over 1,000,000 SNP’s. A “SNP” is a “single nucleotide polymorphsins” that is a single letter mutation in the base pairs of the DNA. For example, swapping an “A” for a “G”, or a “T” for a “C”. These mutations , or SNP’s , play an important role in our predilection for a particular disease.
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- The traits humans, and all life on Earth, from peas to dinosaurs, has to do the “genes” and genes are simply sections of DNA, and DNA is a long string of three billion pairs of “A:,“T”,”G”, and “C” nucleotides. That is adenine, thiamine, quarmine, and cytosine nucleotides. All together they are called a “genome“.
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- Today you can buy the genome mapping process from 2 companies in the Bay Area for $1,000. One of the companies is “ 23andMe” that is just down the road from Google in Mountain View, California. Google invested $3,900,000 in this start up company. “23and Me” refers to the 23 pairs of chromosomes that are in our DNA.
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- The company has 30 employees and their operation is entirely web-based. After a $1,000 purchase you spit 2.5 milliliters of saliva into a vial. You FedEx it to the company, You get an e-mail telling you how to log-on to the web site to view the results.
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- The company does not provide any medical diagnostics in order to avoid all the laws that govern medicine practices and treatments. It claims to only provide “information” about your genome. However, the information is totally amazing:
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- For example: Type 2 diabetes has at least 8 different SNP’s correlated to this disease. RS4712523 means your risk increases by 17%. RS7903146 means your risk decreases by 15%. Huntington’s disease is apologetic condition which means if they find the gene you have a 100% chance of getting the disease, if you do not die of something else first.
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- Variations of 3 SNP’s double you risk for prostrate cancer leaving a 30% chance of getting it in your lifetime. A particular SNP variation leads to “Restless legs Syndrome” Another SNP is exfoliating glaucoma.
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- Once you get this data spreadsheet on-line you see your total health as an equation. The good thing is that you could partake in real personalized medicine. The bad thing is diseases simply come with time. You could become among the group of the “ worried well “. You constantly live in fear of you genetic destiny.
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- But , genetics is not just disease. This $1,000 could be used on your children to determine their predisposition to certain traits or talents, like athletics, music, language. Life could become a game strategy trying to optimize the outcomes. My wife asked me if I would want to be tested. I said, “NO”.
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- Genetics is amazing. If you eat asparagus and you can smell your pea. That is a certain SNP variation. The smell is of methyl mercaptan, a sulfur compound released as your guts digest the vegetables. People without the gene variation find the particular smell imperceptible to them. I can definitely smell mine. I have that gene variation for sure.
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- The web-site has main sections:
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----------- Genome Labs: that catalogs the 23 pairs of chromosomes.
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----------- Gene Journals, that correlates you genome with current research of diseases: There are about 1,400 disease correlated today. More are added every day. Huntington’s disease was linked to a particular chromosome in 1983. Hemochromatosis where the body absorbs too much iron was added. Cystric fibrosis, BRCA1 and BRCA2 for breast cancer were added.
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- The monogenic diseases were relatively simple to correlate but they represent only 5% of the possible diseases. Geneticists soon learned that things were to get more complicated. In the 95% it is multigenic - the subtle interplay among several genes. Much more research is under way. International Hap. Map project is cataloging heliotypes SNP by SNP. Parkinson’s Disease Institute, Autism Speaks, are among the groups funding this research.
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- A major problem exist after a customer gets the information and goes to the doctor with it. There are only 800 M.D.‘s nationwide who are trained in genetics. So, good diagnostics and knowing what to do about it is hard to find.
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- As the genome coding prices come down it will be like a drug store HIV test, or pregnancy test, or blood pressure, or cholesterol, or counting you calories. Your own personal genome will be just one more metric at your disposal. “ May you live in interesting times.”
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- December 12, 2019 2535 999
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--- to: ------ jamesdetrick@comcast.net ------ “Jim Detrick” -----------
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--------------------- Sunday, December 15, 2019 --------------------
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