In a very simple way, genomic medicine is the use of genomic information to provide a personalized diagnostic and targeted therapeutic solution to patients.
From first figuring out the differences in individuals by looking at their genetic profile, then understanding how each disease progresses because of these genetic differences and then developing and providing targeted therapeutics is the goal of genomic medicine. Targeted therapeutics may include solutions gained by DNA editing or the development of specific molecules for a specific condition. Many research Universities have already opened Departments focused on Genomic Medicine. Two examples are given below. Visiting these websites will provide additional information.
Throughout the GenoTypica website, we have highlighted in simple terms what genes are and how they function in relation to the environment and how the uniqueness of individuals will determine the outcome of diseases. From genetic testing to the Personal Genetic Scan reports of individuals to eventually diagnosing a health condition and providing targeted treatments like DNA editing; are all part of genomic medicine. This can also be called personalized medicine. Several diseases like cancer is already being treated this way and medicine of the future will be mostly done this way (or at least we believe it will be done this way). This is something we strongly believe in. Note that not all health problems can be treated this way but if there is a genetic pre-disposition or a genetic influence, then treatments can be customized to the individual in different ways.
Genetics and Your Health
The overall genetic makeup of any individual human is written in the sequence of their entire genome. In other words, if you read the DNA sequence or arrangements of the letters that make up all the 23 pairs of chromosomes that you have, it will tell you a lot about your genetic “story” and give you a sense of who you are and where you might be headed as far as health is concerned. As mentioned before and throughout this website, your genetic makeup and the environment you are in determines how your biological functions play out.
You are Unique: Most human beings are identical in the way the DNA sequence is written throughout their genome. In other words, 98% of the DNA sequence is similar in most people. But, there will be differences from one person to another and it is these differences that makes us all unique. Sometimes these differences are small (single base/letter changes – mutations or variations) and can cause health problems. Sometimes these changes can involve large segments of DNA which break off and are missing or gets re-arranged or is duplicated and so on. These are called deletions, insertions, duplications, translocations etc. and these could also result in different types of genetic conditions. More information about chromosome abnormalities can be found here:
And some chromosomal abnormalities are listed here:
Several websites and a few companies promote one technology (sequencing or DNA Arrays/Chips) as the best option for you to figure out your genetic makeup. In reality, any option you pick is going to do the same thing (see Genome Analysis for details) and provide the same information. The difference is in the approach to get the information and one is not better or worse than the other. There are small time, cost and accuracy differences. It is always best to take the most reliable and established method until other options become affordable and manageable. For example, if you only want to know if you have sickle cell anemia, you do not really need to figure out if all of your HBB gene (hemoglobin B gene) has the expected DNA sequence and instead look at the exact location of where the sickle cell mutation is in the gene. Actually, to figure out if all of the HBB gene is intact by DNA sequencing requires sequencing the whole gene and its neighborhood which is several thousand bases long (the gene itself is 1600 bases and the general neighborhood is around 3900 bases). Instead, since the exact location of the sickle cell mutation has been known for a while (since the 1950s), all you have to do is to look to see if that position has the letter A or the letter T. If the letter is T in both copies of your gene (remember you have 2 pairs of every chromosome, one from each of your parent), you will have sickle cell anemia (SCA). Geneticists will say you are homozygous for that loci (locus is another word for position). In this case, both your parents would have contributed the same mutation, T, and that is why you have T in both copies. The technology used to read the base at that position (whether it is sequencing or DNA Arrays/Chips – essentially two different ways to do the same thing), will tell you if both copies are T or both are A or if one is A and the other is T. Geneticists have a term for different variations seen at a loci and that is called allele. In this example, the T allele is homozygous. So, now you know that it means that they are saying that you are “homozygous mutant in that position”. If you know what version of the allele is expected in a position, you can say it is the mutant allele or the wild type allele. In other words, if the letter at that position (or locus) is A in both copies, then you will have no sickle cell anemia (SCA). Geneticists will still say you are homozygous for that position, but homozygous wild-type (that is the normal expected sequence in the “wild” or the general population). But if one copy of your gene is A and the other is T, then you will not get the disease, but you are a “carrier” for the disease. Now you have both alleles and that is why you are a carrier or technically, heterozygous at that allele. These are different terms (but essentially define the same thing in different ways in different contexts) and those terms are used interchangeably. In the case of SCA, you can confirm all of this by looking at your red blood cells under a microscope. Now you are confirming your phenotype for SCA. What you looked at before was your genotype for SCA. Under a microscope, the cell will show the expected sickle shape if you have the homozygous T allele and that is how it was actually discovered. As you can imagine, if the homozygous A allele or the heterozygous A/T alleles were present, you will see a normal cell. Now you know some basic genetics and essentially how genomic technologies are used to give you information about your genome.
For a good review of Genetics as well as Genetics and Health, please visit the American Society of Human Genetics website that gives a nice overview on this topic. https://www.ashg.org/discover-genetics/