Genetic Screening: The Future of Healthcare

The Human Genome Project, which is possibly the greatest scientific achievement of this century, was completed in 2003. This involved scientists from around the world coming together to sequence the entire genome. The discovery of the genome has led to the emergence of a new field of medicine- one where scientists and doctors can identify potential disorders and diseases based on changes and mutations in our DNA. This might sound like a concept from a science fiction movie, but in fact, genetic screening is fast becoming an invaluable tool for understanding our health.  

What is Genetic Screening?

The iconic double helix structure of the DNA is easily recognizable, but the depth of meaning encoded in its microscopic parts is fathomed by few. Each cell in our body, which is smaller than a grain of sand, houses our entire genetic material. This genetic blueprint comprises 23 pairs of chromosomes, which contain 20,000 genes, further broken down to 3 million protein base pairs. Collectively, this complex structure is responsible for all our physical traits as well as our predisposition to certain medical conditions.  

Imagine our DNA as a complex instruction manual that codes for various aspects of our body's functions. Genetic screening is like proofreading this manual for any potential errors or glitches. Instead of waiting for symptoms to manifest, genetic screening allows us to take a sneak peek into our genetic code, helping us understand our predispositions to health ailments. 

Early Warning System 

Our DNA does not change from the time we are born till the time we die. A genetic screen carried out at birth can alert us to potential problems or disease susceptibilities many years down the line. Hence, it gives us the opportunity to make informed decisions about our lifestyle and healthcare, to help reduce the risk of disease.  

Preventing Rather Than Curing 

The age-old saying "prevention is better than cure" takes on new meaning with genetic screening. It is important to note that having the genetic markers for the disease does not necessarily mean that we would manifest the disease. With advance knowledge of our genetic predispositions, we can adopt lifestyle changes, undergo regular screenings, and take proactive measures to prevent certain conditions from occurring. 

Precision Medicine and Tailored Healthcare Plans 

By understanding your unique genetic makeup, healthcare professionals can tailor their treatments to your specific needs. To give an example, pharmacogenomics report how our body metabolizes certain medications and may identify drugs that we may be resistant to. With this knowledge, doctors find it easier to prescribe the most effective medications for us. This personalized medicine allows for precise treatments and interventions, ensuring that we receive the right care at the right time. 

Genetic Screening and Family Legacy 

Our DNA is not just a personal matter; it is a family affair. Genetic screening provides insights not only into our own health, but also outlines the health legacy that we might pass on to our children. Understanding the genetic makeup of your family can guide decisions about family planning and empower future generations with the knowledge needed to make proactive health choices. 

What are the Different Types of Genetic Screening Tests? 

Proactive Genetic Screening 

Proactive Genetic Screening has the power of transforming healthcare from a reactive to a proactive model. The knowledge and information it provides is empowering- it gives us the power to make informed decisions, to take control of our health and live a healthier and more confident life. Genetic Screening provides information about our susceptibilities to many chronic diseases, for example, cardiovascular diseases, such as coronary artery disease and hypercholesterolemia, cancer risks, such as breast and colo-rectal cancer, metabolic diseases, such as diabetes, obesity and Insulin resistance and neuro-degenerative diseases, such as dementia and Alzheimer's. Not only that, it also looks for our risks for developing many rare diseases. 

 Newborn Genetic Screening 

A comprehensive screen offered at birth, which provides information about more than 100 rare diseases. In isolation, each of these conditions are rare, but collectively, they affect a considerable number of children- one in 17 children born today will suffer from one of these diseases in their lifetime. Typically, it takes three to five years to diagnose rare diseases through conventional means, resulting in countless doctor visits and unnecessary tests. With a diagnosis at birth, appropriate treatment can be initiated without delay, leading to significantly better outcomes. The newborn screen is usually recommended for all children under the age of 6 months, however, it can be undertaken at any time before age 5 years. 

 Carrier Screening 

Carrier screening is a genetic test that provides information about the likelihood of transmitting specific genetic variations and diseases to our children. Parents might be completely a-symptomatic but may carry certain genes which can manifest as disease conditions in the child. Carrier screening is extremely important for those individuals who have a family history of genetic conditions or belong to certain ethnicities or race where particular conditions are common. Understanding carrier status allows us to make informed decisions about our reproductive choices.  

There is absolutely no doubt in my mind that genetic screening and diagnosis is the future of Medicine. Very soon, physicians will not make any medical decisions about treatment without considering genomic data. Our genome is not just a scientific marvel; it is a key to unlocking a healthier and more informed future.