One of my greatest satisfactions is seeing how important people in my life, like my friend Carmen, a true fighter and winner of breast cancer, comment on and appreciate the new whole genome-based genetic analysis that we have added to our platform.
From her own personal experience, she is much more receptive to all the development and innovation that is taking place in the world of genetics and for this reason I cannot fail to thank her for all her collaboration in disseminating the advances in this field and especially in the field of predictive medicine.
There are many comments, public and private, that you make us. Here I leave you, as an example, the last comment from my friend Carmen that she has made on her Facebook account:
But, why is it important to carry out a genetic analysis based on the whole genome?
Before answering this question, I will briefly explain what the complete genome is. For this I will use the explanation published by the National Institutes of Health (NIH) of the United States:
“A genome is an organism’s complete collection of deoxyribonucleic acid (DNA), that is, a chemical compound that contains the genetic instructions necessary to develop and direct the activities of all organisms.”
Currently, the human being is not capable of knowing the meaning of all the DNA (between 20,000 and 30,000 genes). What we know how to interpret today, without going into scientific definitions, is called the exome (depending on the articles consulted, we could be talking about 3 or 4% of the complete genome).
Every day we expand our knowledge of the exome, knowing much better how certain genes work and what happens with their variants and mutations. The number of genes that are part of the exome is also expanded, giving us more tools to prevent or treat certain diseases. To broaden this knowledge, whole genome sequencing is an important tool, as indicated by Dr. Francis S. Collins:
“Genome-wide association studies (GWAS) are responsible for the flood of discoveries of genetic risk factors in common diseases that have recently emerged from research laboratories. What you do in a genome-wide association study is you find a lot of people who have a disease and a lot of people who don’t but are otherwise comparable. And then it searches the entire genome, using single nucleotide polymorphisms (SNPs), trying to find a place where there is a constant difference between them. And if you’re successful – and being really careful with your use of statistics so you don’t pick out a bunch of false positives – this allows you to zero in on a place in the genome that should be involved in disease risk, without having to guess. in advance what kind of gene you will find. The beauty of genome-wide association studies is that they take us beyond the search for a candidate gene, which was quite frustrating because most of the candidate genes turned out not to be responsible, but we could say that the whole set of those genes were candidates. This new strategy is comprehensive enough to be able to consider all of them.”
Today, if you carry out a genetic analysis based on whole genome sequencing, you will be able to know if you have or could have any genetic disease of more than 200 diseases (with contrasting studies and scientific consensus), you will know if you can transmit any genetic disease your children (more than 40 diseases are studied), you will learn how your body metabolizes more than 50 active principles used in more than 300 drugs (some of them as common as ibuprofen), etc.
On the page you can access an example report where you can see in detail what information this type of analysis would provide you.
With this information and always with the support and follow-up of a genetic counselor or a doctor, you will be able to improve your quality of life by adopting preventive medicine measures.
In addition, this type of analysis, whenever you authorize it, can be used for new studies, as indicated by Doctor Francis S. Collins and allows us to apply the new advances to the analysis carried out so that you can adapt your lifestyle if necessary. .
This type of analysis is becoming the cornerstone of the new concept of medicine that replaces traditional curative medicine. In this article on the medicine of the 4Ps (Preventive, Predictive, Personalized and Precision) you will be able to expand information on how the information provided by this type of medicine is applied and analysis.
Carlos Martín, CTO of medmesafe