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How Genomics is Transforming the Diagnosis of Metabolic Diseases - Dr Ranjit Unnikrishnan

In modern health care, genomics are transforming the traditional way of diagnosing and managing the diseases like diabetes, obesity and related disorders. Generally, these disease conditions were diagnosed with the help of blood tests, symptoms and medical history. Genomics open a big door towards a deeper level analysis of an individual’s genetic composition.

With the help of genomics, health care is able to move from reactive treatment to precision treatment by early detection and prevention.

What is Genomics in Metabolic Diseases?

Genomics refers to study of genes and how they impact health and development of diseases. With respect to metabolic diseases, genomics plays a significant role in identifying genetic variations that may have an impact on the risk of obesity, diabetes and other disorders.

Genomics provides newer insights about a disease even before symptoms appear so that individuals at risk can take early preventive steps.

Role of Genetic Markers in Disease Risk

The most important advantage of genomics is in the detection of genetic markers. These genetic markers help to understand whether a person is prone to develop a disease.

For example, some people may have a genetic make-up that affects their insulin function, glucose absorption or fat metabolism. Moreover, these early insights on risks allow health care providers to recommend:

• Lifestyle modifications

• Regular screening

• Personalised diet plans

• Physical activity routines

As a result, individuals are able to reduce their risk of long-term complications.

Clinical Applications of Genomics in Diagnosis

Genomics is already being used in real life clinic practice. Understanding the genetic basis of disease can help doctors prescribe the most accurate therapy. Sometimes, individuals are diagnosed as having type 1 diabetes and put on insulin, when in reality they may have monogenic forms of diabetes such as MODY for which tablets will work better. In such cases, genetic testing helps to understand the condition accurately and treatment can be modified accordingly.

Early Screening and Preventive Healthcare

Once an individual becomes aware that he/she is at risk of developing disease, proactive steps can be taken such as:

• Monitoring blood glucose levels

• Implementing dietary changes

• Encouraging regular exercise

• Scheduling routine check-ups and periodic screening

This can help in delaying or preventing development of disease.

Challenges in Genomic Testing

Though genomic testing has significant advantages, it does have the following challenges.

• Genetic testing can be expensive

• Availability may be limited in some regions

• Interpretation requires specialised expertise

• Data privacy concerns still exist

But with the help of digitisation, these challenges can be overcome to a great extent.

To conclude, genomics in metabolic diseases is revolutionising the way diseases are detected and treated. By identifying genetic risks early, guiding treatment decisions, and enabling preventive care, genomics offers a more precise and effective approach to healthcare.

Disclaimer: The views expressed in this article are of the author and not of Health Dialogues. The Editorial/Content team of Health Dialogues has not contributed to the writing/editing/packaging of this article.

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