DNA Testing: The Future of Personalized Medicine?

Health concerns, hereditary illnesses, gene mutations, lifestyles, diets and the environment all form a very complex picture of our health and well being. The interplay of various science domains are coming to bear onto this aspect of our lives more than ever before: we are looking at interactions between biotechnology, bioinformatics, health management, nutrition and molecular biology.

The face of today’s medicine is changing; the age of personalized medicine where technology is created with and tailored to the needs of specific individuals and their unique genetic makeup are at the doors of scientific advancement.

Huge leaps forward have already been made in locating the links among DNA, genetic sequences, and diseases. Technology in genetics has been an evolutionary leap – the human genome, made up of some 20,000 to 25,000 genes according to the Human Genome Project, can nowadays be sequenced in just twenty-four hours. 

We must not forget that we also have a second genome, the Mitochondrial DNA genome, which has also been fully sequenced. This further attests to just what science and genomic tests has achieved.

Genes and Disease - How Are They Related?

Human DNA is made up of millions of sequences of molecules which are linked by weak hydrogen bonds. Each of these molecules is represented by one of four letters: A, T, G and C. But just how many of these base pairs are there in human DNA?

The number of base pairs exceeds 3 billion in the 23 chromosome pairs making up a human being. But while many of these sequences are the same repeated sequences in everyone, scientists have also found millions of differences in these genetic sequences from one person to the next.

They have found single base pair variations between individuals at some specific points on their DNA molecule. Scientists refer to these variations as single nucleotide polymorphisms (SNPs). These variations can have unknown effects as we do not know what every variation codes for. Some variations can affect us marginally, perhaps in positive or beneficial ways and other variations yet could have catastrophic effects.

Genetic Mutations, SNPs, and Disease

So how does all this tie in with disease? How does it help answer questions like, “Will I develop breast cancer?” or “Is there anything I can do to minimize my risk of getting multiple sclerosis?”

We have all heard Angelina Jolie’s choice for a simple/ total mastectomy because of her high genetic predisposition to breast cancer. This celebrity case has raised considerable awareness about what genetic testing is all about.

When analyzing the human genome, scientists embark on what is known as tertiary analysis. This is where specific SNPs or gene mutations are linked with specific diseases to highlight an individual’s genetic risk. This test is being offered by many laboratories including International Biosciences (http://www.ibdna.com/), homeDNAdirect, and others.

Determining your genetic health is possible with a simple mouth swab, or, at most, a simple blood sample. This is all you need in order to know your genetic predisposition to possibly hundreds of diseases, diseases that you inherited from your parents and that your children might inherit too.

The results will establish the statistical probability that the tested person will develop the disease over the course of their life. Results can essentially provide people with the tool they need to mould their health, optimizing it in the best possible way by deterring the diseases they are predisposed to through preventive lifestyle measures.

Genetic Testing Starts Early

If you have been through pregnancy or are simply “au-courante” with the world of obstetricians and gynecologists, you must have heard of amniocentesis and chorionic villus sampling. Genetic testing does in fact begin early, aimed at ensuring the healthiest and strongest babies are born.

A whole plethora of diseases and chromosomal abnormalities can be determined in the unborn fetus, thanks to genetic health tests. Now, scientists have even developed their prenatal technologies, able to extract fetal DNA from maternal blood samples.

- And They Begin Even Earlier

If you have not heard of preconception genetic testing, then you are probably not the only one. Yet this is becoming a hugely enticing analysis and health assessment for couples who want to try for a baby.

Using DNA testing technology, medical history, and other parameters, it is possible to assess whether there are any chances of conceiving a baby with a given diseases or genetic abnormality. We are at the cusp of a future-oriented science. With the help of medicine, we try to look into the future to help make the present a much better one.

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