What is genetic testing? genetic testing for disease genetic testing | India News

Contributed By: Anjali Dharras

Any medical condition is an emergency that can lead to serious complications and, if not treated on time, can prove fatal. In most cases, the immediate medical intervention of any health problem depends on an individual’s genetic background or lifestyle adaptations. Fortunately, the importance of genes has made a leap in recent years.

Nowadays, genetic testing is used as a common screening tool and is used for a variety of purposes, such as identifying carriers, and predisposing to any disease in pre-symptomatic individuals, and for lifestyle changes. Identifying changes in the pattern that can lead to chronic complications or diagnoses. ,

With technological advances in the medical field, the latest medical concept called pre-emptive medicine is used to predict disease onset and progression. With timely therapeutic drugs, the disease can be treated at an early stage before symptoms appear.

This therapeutic drug approach and genetic testing together are sure to identify individual symptoms, causes, and risk factors of a disease. This predictive identification of latent disorders as well as lifestyle-related diseases can lead to personalized diagnosis of a medical condition using high-quality medical interventions and, therefore, help reduce the occurrence or likelihood of that particular predisposition.

Genetic testing not only helps in disease prediction, but will also lead to optimistic health outcomes to contribute to medical emergency interventions in a more beneficial way in the near future. This article aims to assess the benefits of genetic testing when it comes to preventive health care, as well as its impact on the rapidly evolving healthcare ecosystem.

What is genetic testing?

Genetic testing or DNA testing is a medical test that examines DNA and individual genes for genes based on the genome profile. This screening includes testing of alleles, genotypes, karyotypes, or complete genome systems to check for any lifestyle changes or symptoms such as diabetes, high BP, fluctuating blood sugar levels, vitamin deficiencies, heart and digestive problems, as well as Stress and any predefined medical conditions can be detected. Weight related disorders.

It works by understanding the patient’s medical history as well as the genetic background of his family. Furthermore, genetic testing tests identify genetic markers of a person to predict the onset and progression of any disease.

To confirm a particular disease, genetic testing locates cells or tissues within the DNA to look for any mutations:


Segments of DNA that carry information and provide the physical appearance of a living organism.


Large and complex molecules that are responsible for the structure, function and regulation of tissues and organs within the body.


A combination of DNA and proteins that carry hereditary information.

Currently, more than 1,500 predetermined diseases can be diagnosed or predicted using genetic testing, and therefore, it is increasingly being recognized as an integral part of risk assessment. In some cases, it may be necessary for individuals to have manageable lifestyle factors such as diet, physical activity, smoking and alcohol consumption, to name a few. In addition, genetic testing is often recommended for people who are planning to undergo certain prophylactic treatments, medical tests, and/or expand their family.

Why is genetic testing done?

Genetic testing is a predictive gene testing technique in clinical settings. This test also includes genome sequencing, which is performed at the point where genetic testing does not lead to a diagnosis, but a genetic disorder is suspected in a person.

As mentioned above, genetic testing can be done to diagnose or predict many diseases, ailments and medical conditions related to lifestyle management, such as:

  • To identify hereditary carriers of a disease
  • pre-symptomatic testing of a person
  • To check proper diet and overall nutritional profile
  • To test the detoxification profile, including fat and water-soluble vitamins, and oxidative stress
  • To test the cause of persistent fluctuations in blood sugar levels
  • To diagnose any changes in DNA or genes
  • To understand changes in lifestyle patterns
  • To find out the complications and severity of the disease
  • To investigate the genetic lipid profile
  • To check for food sensitivities and intolerances
  • To identify a strong response to macronutrients
  • To predict the causes of obesity as well as eating behavior
  • Early diagnosis of heart, kidney, brain, blood, liver and other physical diseases
  • To identify the causes of abnormal sleep patterns
  • Checking exercise to maintain a healthy lifestyle pattern that is well suited for the patient and also the level of endurance.
  • A typical response to aerobic and anaerobic activities
  • To identify the immune response to injuries and recovery

What are the types of genetic testing?

Since genetic testing is helpful in predicting many hereditary diseases and disorders, there is no single test that can detect diseases at once. In fact, genetic testing is classified into a few types based on family and current medical history, as well as which condition you are choosing to test for. These genetic test types include:

single gene test

As the name implies, it only detects changes in a gene to confirm a specific disorder or disease. This test is recommended by a doctor when a familial genetic mutation is known.

panel genetic testing

This type looks for changes in multiple genes in a set. A doctor suggests panel tests to diagnose a number of medical concerns, including cancer.

Genome/Mass Genetic Testing

This test is further divided into 2 types; Exome sequencing and genome sequencing.

Exome sequencing: This test looks for all the genes in the DNA or genes that are specifically responsible for certain medical conditions.

Genome sequencing: A test that diagnoses a person’s entire DNA structure or performs a detailed genome test to detect any mutations in the body.

chromosome test

A test that looks for mutations in a person’s chromosomal structure. These tests are karyotype and chromosomal microarray.

gene expression

In the human body, genes are expressed at different levels. This level is detected between healthy and diseased cells with the help of a gene expression test. This test may also be necessary to diagnose cancerous gene expression changes.

What are the factors affecting genes?

There are many controllable and uncontrolled factors in the human body that affect gene expression. Gender, family history and age are some of the uncontrollable risk factors, while diet, exercise, smoking and exposure to chemicals are factors that can be controlled. All of these controllable and uncontrollable factors count in multifactorial inheritance and make a person susceptible to several genetic disorders, such as autoimmune diseases, cancer, mental health, anxiety and depression.

How is genetic testing done?

Collecting a blood sample is the easiest and fastest way to diagnose any predisposition to diseases. The collected sample is sent to the laboratory and processed with one of the genetic test types as selected or recommended by a doctor.

In addition to blood, a sample of DNA can be extracted through cheek swabs, hair, saliva, skin, placenta tissue, and amniotic fluid.

What type of genetic test results do you get?

Genetic testing reflects any mutation in DNA or genes and can result in either a positive (high), negative (low), or indeterminate (moderate) result of the three major risk scores.

positive/high risk score genetic testing

If a positive genetic test is diagnosed in a person, it means that a genetic mutation is found that causes the disease. However, a high-risk score does not always mean that he develops a disease.

Indeterminate/moderate risk score genetic testing

An indeterminate genetic test is one where not enough is known about the genetic mutation or it is difficult to determine whether the disease is acute or chronic. However, this moderate risk score can be changed from bad or good to high or low risk by making some lifestyle changes, respectively.

negative/low risk score genetic testing

If a person is diagnosed with a negative genetic test, a low risk score will not guarantee that person does not have the disorder. A low risk score may be due to incorrect testing or there is no genetic reason for a person’s disease.

A true negative genetic test will occur if the genetic mutation is known but the person has not inherited the same disease.

What are the pros of genetic testing?

Genetic testing plays an important role in the predictive health care system and helps healthcare professionals determine pre-symptomatic diseases with high accuracy by examining DNA or genes.

In addition to diagnosing predisposing disorders, genetic testing has far more advantages. These are:

  • Early detection of asymptomatic genetic disorders
  • Providing detailed information about the health of a person and his family
  • Exposure to certain genetic and lifestyle factors with the help of genetic counselors leads to serious complications.
  • Guide the genetic counselors to take necessary preventive health measures in time to control the onset and progression of diseases by suggesting certain lifestyle changes.

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