What is genetic testing? Genetic testing for disease genetic testing

Contributed by: Anjali Dhara

Any medical condition is an emergency that can cause serious complications and can even be fatal if not treated on time. In most cases, emergency medical intervention for any health problem depends on a person’s genetic background or lifestyle adaptations. Fortunately, genes have grown in importance in recent years.

Nowadays, genetic testing is used as a common screening tool and is performed for a variety of purposes, such as identifying carriers, and predispositions to any disease in presymptomatic individuals, and identifying changes in lifestyle patterns that may lead to chronic complications or to identify a diagnosis. can .

With technological advancements in the medical field, the latest medical concept called pre-emptive medicine is used to predict the onset and progression of a disease. With the help of timely therapeutic drugs, the disease can be treated in the early stages before symptoms appear.

Together, these therapeutic medicine approaches and genetic testing hold the certainty of identifying a disease’s unique characteristics, causes, and risk factors. This predictive detection of latent disorders as well as lifestyle-related diseases can lead to more carefully personalized diagnosis of medical conditions using high-quality medical interventions and, therefore, help reduce the incidence or likelihood of that particular predisposition.

Genetic testing not only helps in disease prediction, but it will also provide promising 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 healthcare, 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 tests for personalized testing of DNA and genes based on genome profiles. This screening involves allele, genotype, karyotype, or whole genome system testing to detect lifestyle changes or any predisposing medical conditions such as diabetes, high blood pressure, blood sugar fluctuations, vitamin deficiencies, cardiac and digestive problems, as well as stress and stress. Weight-related disorders.

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

To confirm a specific disease, genetic testing identifies cells or tissues in the DNA for any mutations:


Segments of DNA that carry information and give a living organism its physical appearance.


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 genetic information.

Currently, more than 1,500 predisposed diseases can be diagnosed or predicted using genetic testing, and therefore, it is rapidly being recognized as an integral part of risk assessment. In some cases, individuals may need to address some manageable lifestyle factors such as diet, physical activity, smoking and alcohol consumption. In addition, genetic testing is often recommended for people who are considering certain prophylactic treatments, medical screenings, and/or planning to 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 done where genetic testing does not lead to a diagnosis but a genetic disorder is suspected in an individual.

As mentioned above, genetic testing can be used to diagnose or predict various diseases, illnesses, and medical conditions related to lifestyle management, such as:

  • Identifying hereditary carriers of a disease
  • Presymptomatic examination of a person
  • To check a proper diet and complete nutritional profile
  • To examine detoxification profiles including fat and water-soluble vitamins and oxidative stress
  • To check for causes of persistent blood sugar fluctuations
  • Detecting any changes in DNA or genes
  • To understand changes in lifestyle patterns
  • To find out the complexity and severity of the disease
  • To check genetic lipid profile
  • To test for food sensitivities and intolerances
  • To detect a stronger response to macronutrients
  • Predicting obesity factors as well as eating behavior
  • Early diagnosis of heart, kidney, brain, blood, liver and other physical diseases
  • To identify causes of abnormal sleep patterns
  • Assessing exercise and tolerance levels well suited to the patient to maintain a healthy lifestyle pattern.
  • A specific response to aerobic and anaerobic activity
  • To identify an immune response to injury and recovery

What are the types of genetic testing?

Because genetic testing is helpful in predicting several hereditary diseases and disorders, there is no single test that can detect illness at once. In fact, genetic testing is classified into a few types depending on family and current medical history as well as the condition you want to be tested for. These types of genetic testing include:

Single gene testing

As the name suggests, it detects changes in only a single gene to confirm a specific disorder or illness. A doctor recommends this test if a family genetic mutation is known.

Panel genetic testing

This type looks for changes in multiple genes in one set. A doctor recommends panel tests to diagnose several medical concerns, including cancer.

Genome/large-scale genetic testing

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

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

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

Chromosome testing

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


In the human body, genes are expressed at different levels. This level is detected in healthy and diseased cells using gene expression tests. This test may also be essential for detecting changes in the expression of cancer-causing genes.

What are the factors that affect genes?

There are many controllable and uncontrollable 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 controllable factors. All these controllable and uncontrollable factors are counted in multifactorial inheritance and make a person susceptible to several genetic diseases, 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 disease trend. The collected sample is sent to the laboratory and processed with one of the types of genetic testing according to the gene test selected or recommended by the doctor.

In addition to blood, DNA samples can be extracted from cheek swabs, hair, saliva, skin, tissue from the placenta, and amniotic fluid.

What kind of genetic test results do you get?

Genetic testing shows any changes in DNA or genes, and three main risk scores can result in a positive (high), negative (low) or indeterminate (moderate) result.

Positive/high-risk score genetic testing

If a person is diagnosed with a positive genetic test, that means a genetic change has been found that causes the disease. However, a high-risk score does not always mean that he will develop the disease.

Uncertain/moderate risk score genetic testing

An inconclusive genetic test is one in which there is insufficient information about the genetic mutation or it is difficult to determine whether the disease is acute or chronic. However, this medium risk score can be changed to high or low risk by some changes in lifestyle adaptations for worse or better, respectively.

Negative/low-risk score genetic testing

If a person has a negative genetic test, a low-risk score does not guarantee that person does not have the disorder. A low-risk score could be due to an incorrect test or a person having no genetic cause for the disease

A true negative genetic test would be when the genetic mutation is known but the individual has not inherited the same disease.

What are the benefits of genetic testing?

Genetic testing plays an important role in predictive healthcare systems and helps healthcare professionals diagnose presymptomatic diseases with high accuracy by testing DNA or genes.

In addition to diagnosing predisposed disorders, genetic testing has many advantages. These are:

  • Early detection of asymptomatic genetic disorders
  • Providing detailed information about the health of an individual and his family
  • Helpful genetic counselors can understand exposure to certain genetic and lifestyle factors that cause serious complications.
  • Guide genetic counselors to take timely preventive health measures to control disease onset and progression by suggesting specific lifestyle changes.

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