How study of genes makes sense in life

The study of genes is making big strides now than ever before. Inherited conditions, previously dubbed as “the-difficult-to-understand diseases,” can now be identified through screening multiple genes, thanks to the advancements made in this field.

Yet, in the future, we are likely to see exponential improvement in this aspect. Some of the diseases that haunted us—most often without specific treatment—could now find better, efficient and targeted therapies.

Dealing with errors in genes

Just as I highlighted in the previous article on this column, at times something may terribly go wrong within your genes—the building blocks of your entire system. Errors may occur and here, we say a “gene mutation” may have occurred.

Identifying genetic mutations allows better understanding of the function of a gene and how it will likely change the normal functioning of a human being.

So, medical scientists are studying these mutations in genes to identify causes of diseases and find ways to treat them through the more efficient targeted therapies.

Are you immune to mutations?

No you are at risk! You may get such genetic problems, either through inheritance from parents or from environmental factors; such as being over-exposed to Ultra-Violet radiations (UV) from the sun and many other ways.

Genomic medicine explores this relation between the genetic makeup (our DNA) and environment to determine the risk that a certain disease onset will occur and allows medical professionals to minimise the chance of developing the condition.

This new branch of medicine, is already influencing fields such as cancer research, medical diagnostics and drug production, directly influencing our health.

The Human genome project (HGP) is one of the largest successful biological projects that brought together international research scientists to collaborate and study the sequence of DNA in our bodies.

But, has the billion dollar investment impacted our lives? What was expected at the time was to generate enough sequencing data to allow scientists to understand the biology behind reasons that cause diseases and find ways to stop it!

There was excitement about the HGP, as it raised realistic expectations of getting personalised medicine to the clinics.

But what scientists are now focusing on, is getting the right kind of information from the data that will benefit how the healthcare industry is run to improve quality of life and reduce mortality.

Predicting diseases before birth

In addition to diagnosing diseases in which causes of symptoms were previously unknown, this study of genes linked to health can be very useful in screening for mutations in fetuses of pregnant mothers, known as prenatal tests.

Prenatal tests look for changes in the DNA of the fetus. They can predict if something is wrong with the baby, before it is born.

Examples of a common diseases that can be diagnosed in such a way is Down’s syndrome, Cystic fibrosis, Trisomy 18 and 13, among others.

This allows parents to be better prepared and make informed choices that will impact the future of the child (unborn).

Genomic medicine, via genetic testing, can also predict the likelihood of a child to develop an inherited disease condition from the parents even in later stages of life.

Screening family members with similar conditions allows the assessment of risk factors to determine within a family, who is at risk of either developing the disease or passing on to the next generation.

Did you know?

Even the most common diseases such as Non-Communicable Diseases (NCDs) could be traced at genetic level.

Here, I am talking about diseases that you have heard or seen of, including: heart disease, cancer, chronic respiratory diseases and others in this group.

Using this science we have been talking about, even diseases such as heart conditions, high cholesterol and cancer can be better managed with medicines, lifestyle changes and medical interventions even before they occur symptomatically.

We have learnt how genetic testing has influenced the birth of genomic medicine and the great advantages it brings about. Stay tuned for the final piece of this trilogy, to understand how genomic medicine can be personalized to change the world of healthcare.

The author is a trained Molecular Biologist and Biotechnologist currently pursuing a PhD in medical genetics in The Netherlands.