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Early detection of the disease can give you an early start to make necessary lifestyle changes or charting an early medical treatment to prevent or delay the disease.

genetic testingThe latest developments in molecular genetics and the completion of the Human Genome Project (HGP) have transformed clinical healthcare.

By Neeraj Gupta,

Genetic testing unravels huge information by analyzing an individual’s DNA. Genetic testing can reveal any changes in your genetic makeup and gene mutations that may cause any medical conditions in the future. Early detection of the disease can give you an early start to make necessary lifestyle changes or charting an early medical treatment to prevent or delay the disease.

For instance, if you have cancer, genetic testing can reveal if the cause of cancer is hereditary. It can also help detect whether you are at risk of other types of cancer. Genetic testing can characterize an individual’s genetic profile who is suspected to be at increased risk for an inherited disease.

Significance of Genetic Testing

Genetic testing has made excellent strides during the last decade, and it has become one of the promising fields in healthcare. Due to rapid advances in genomic technologies, genetic testing has gained an essential role in clinical practice for disease research.

With the latest technologies, several new genetic screening methods have been invented for fast and reliable testing of genetic material. It makes it easier and quicker for doctors and genetic counsellors to evaluate different genetic conditions and determine the most appropriate treatment methods in preventing the disease.

There are different genetic screening methods, such as diagnostic testing, newborn testing, predictive and presymptomatic testing, prenatal testing, whole-exome sequencing, clinical exome sequencing, and more.

Due to the widespread awareness of genetic testing among consumers, healthcare is seeing a major transition from treatment to prevention. Direct to consumer companies like Genes2Me offer various preventive genetic testing such as BRCA, disease carrier screenings, fitness screenings, genetic predisposition to diseases, prognostic screenings, nutrigenomics, pharmacogenomics, etc. These genetic tests help individuals to make personalized decisions customized to their specific genetic signatures.

Advances ingenomics may lead to widespread application in understanding cancer, rare diseases, and prevalent NCDs such as obesity, diabetes, and cardiovascular. In the future, we could see genetically wearables, digital tools, etc to make users aware of any genetic changes.

The Future of Genetic Testing

The latest developments in molecular genetics and the completion of the Human Genome Project (HGP) have transformed clinical healthcare. These new technologies have paved the way for rapid improvements in diagnosing and treating genetic diseases.

So, what more can be done in genetic testing? After predicting the likelihood of any diseases, wouldn’t it be great if genetic testing could cure or even prevent the disease?

As genetic profile information is already being used to create personalized drugs, in the future, we could expect that genetic screening will help us in identifying any change in a protein that alters the function of a specific protein to cause disease. New drugs could be designed to compensate for the altered protein function that may help us correct the disease-causing defect.

Furthermore, research is already being conducted in biotechnology companies using genetic information to design drugs and to predict the different toxicity types that may occur with the use of these drugs.

It will help examiners and scientists to evaluate the effectiveness of the drug trials or clinical therapeutic trials. Genetic researchers could also discover why some people respond to drugs better and why some do not? This will help in developing medicines based on genetic differences.

For instance, if a new drug treats only 35 percent of patients effectively, it may not be considered highly successful. But suppose the researchers found that 35 percent of patients who have responded to the drug have a similar polymorphism in a specific gene. In that case, healthcare providers can use the polymorphism in selecting a treatment plan for a specific patient.

Therefore, we can see the massive rise of genetic treatment in the future, where the right drug will be used in the right patient. Currently, there is a vacuum between what the doctors diagnose and what they can treat. However, advancements in genetic testing can narrow the gap as therapeutics catch up with diagnostics.

Moving beyond therapeutics is the development of preventive interventions, where an individual could use diet, exercise, lifestyle changes or even drugs to prevent the onset of disease.

The Way Forward

Genetic testing is a critical instrument for translating advances in genetics and genomics into public health benefits. It has already been observed that the risk for almost all human diseases arises from an association with inherited genetic mutations and environmental factors. Our understanding of the predisposition to various medical conditions and genetic testing will allow us to plan our journey towards a healthier life. As more genomes are sequenced, more screening is being done, the balance of genetic testing will tilt towards preventive and personalized medical treatment.

(The author is Founder and CEO, Genes2me. The article is for informational purposes only. Please consult medical experts and health professionals before starting any therapy, tests, medication and/or remedy. Views expressed are personal and do not reflect the official position or policy of the Financial Express Online.)

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