Genetic diagnostics is able to anticipate getting afflicted with about a 100 diseases. Thanks to that, we can learn of our predispositions towards breast cancer, ovarian cancer, colorectal cancer or lung cancer. DNA tests will give us tips about a proper diet, and what food allergies we may be subject to. They will help us choose an appropriate physical activity for improving our health. Testing of genes conditioning our metabolism will give us hints about how we can prevent atherosclerosis, diabetes, heart attack and obesity. Gene analysis is also an ideal source of knowledge about the absorbtion of vitamins in our system. This is how we will learn about taking care of our skin, hair and nails. Finally, DNA tests will give us guidelines about taking care of our sight, fighting hair loss or reducing the risk of falling victim to Alzheimer's.
Human genetic material (DNA) is a source of knowledge about our organisms. The complete set of data about every DNA particle included in a cell is called a genome. Information included in this genome, so called coding segments or genes, serve the cells forming a body, as an 'instruction manual'. Every gene describes a structure of one of the thousands of proteins. Thanks to instructions included in a specific gene, the cell knows how a specific protein is supposed to be built. Every protein created within a cell has a different function. Some are building blocks (like collagen in skin), some are able to carry out chemical reactions essential for sustaining basic cell functions. Some other protect the system against bacteria and viruses.
Because of how important information within genes is for human health and life, scientists have been trying to decipher them for over 20 years, in order to use this knowledge in the fight against the most dangerous diseases humanity is facing. Those are, among others, cancer, depression or cardiovascular diseases. Those efforts were hampered by technical obstacles, stemming from limited scientific methods used in DNA analysis. Obtaining the first complete human genome sequence, acquired within the Human Genome Project, took about 10 years, and required almost 3,000,000,000 dollars. Experience and data obtained thanks to this project started a landslide of ideas, inventions and technical improvements that, in the middle of the first decade of the 21st century, enabled the creation of the first type of equipment that allowed for significantly cheaper and faster acquisition of full data about genomes of individuals. Today, the cost of obtaining this kind of information costs tens of thousands of dollars, and the whole process takes about a month to accomplish.
It is estimated that the human genome contains about 20,000 protein coding genes. They account for only a small part of DNA in our cells - about 3% of the whole human genome's length. Scientific research showed that the data contained in the genes of specific people are almost identical - nearly 99.5% are the same. Those small differences among genes of individuals, however, are largely responsible for who we are and how we react to the world surrounding us. Thanks to those differences some people are tall, some are short. Some are great runners, others can lift tremendous weights. Some can easily lose weight, others need to put a lot of effort into losing a single pound. Some keep their strength and mental capacities until old age, others have to suffer afflictions connected with old age.
Differences among people that we see every day are a result of mainly two factors - varying life environment and small differences in specific genes. Differences among genes basically boil down to changes we call mutations. Sometimes a mutation appearing in a specific gene can cause a genetic disease. More often, however, a mutation results in a small change in the way a protein, encoded by a given gene, operates. This kind of harmless change is called a polymorphism and a technical term for it is SNP (Single Nucleotide Polymorphism). Assuming that a single gene is an instruction for building a specific protein, differences between genes can be compared to 'typos' - mistakes occurring when retyping text. Our DNA code is transcribed multiple times in the lifespan of every cell. During this transcription, mistakes sometimes occur and they change the contents of the instructions stored in the genes. Sometimes those changes do not cause any significant consequences for the system. An example of this kind of transcription mistake is the ABCC11 gene mutation, which causes a change in the color and consistency of ear wax. Sometimes, however, a small change in a gene can cause severe disturbances in the functioning of the whole system, often leading to death. An example of this kind of mutation is the hemoglobin gene mutation that causes a disease called sickle cell anemia.
To compare genomes of two people, and find differences between their genes, it is not necessary to analyze complete genomes. Scientists have designed methods of comparing genes based on detecting the mentioned before small differences between genes (SNPs). Commercial companies that produce specialized equipment able to simultaneously analyze hundreds of thousands of SNPs have been created.
Currently, the market for this kind of testing is comprised of several companies, with two biggest of them being Illumina and Affymetrix. In our report, we use an advanced DNA microarray analysis system by Affymetrix, which allows for simultaneous determination of presence of over 800,000 SNPs in the genome of the tested person. All of the determinations are performed in the certified Affymetrix laboratory. Additionally, DNA profile of every sample is subject to advanced supplementary analyses, which allow for about 11,000,000 of additional SNP items, based on direct analysis. Thanks to this approach, we can offer the widest range of determining SNP items for characteristics that are included in this report.