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Understanding Genetic Testing and Its Purpose

Explore genetic testing, its purpose in detecting inherited conditions, guiding treatments, and helping individuals make informed health and family planning decisions.

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Written by Dr. Siri Nallapu

Reviewed by Dr. Md Yusuf Shareef MBBS

Last updated on 7th Aug, 2025

genetic

Genetic testing is a powerful tool that can provide valuable insights into your health, ancestry, and even potential risks for certain diseases. If you're curious about what genetic testing is, why it's done, and how it can help you, this article will guide you through everything in simple, easy-to-understand terms.

What Is Genetic Testing?

Genetic testing is a medical test that examines your DNA—the unique genetic code that makes you who you are. Your DNA contains instructions for how your body grows and functions. By analyzing your genes, doctors can identify changes (mutations) that may affect your health.

Genetic tests can be done using a small sample of blood, saliva, or tissue. The results can help in diagnosing diseases, predicting risks for certain conditions, and even guiding treatment plans.

Why Is Genetic Testing Done?

Genetic testing serves several important purposes:

1. Diagnosing Genetic Disorders: If you or your child has symptoms of a genetic condition (like Down syndrome or cystic fibrosis), genetic testing can confirm the diagnosis.
2. Predicting Disease Risk: Some tests can tell if you have a higher chance of developing diseases like breast cancer, Alzheimer’s, or heart disease later in life.
3. Family Planning: Couples planning a pregnancy may get tested to see if they carry genes that could be passed on to their baby (e.g., sickle cell anaemia or thalassemia).
4. Personalised Medicine: Genetic testing can help doctors choose the best medications or treatments based on your genes (pharmacogenomics).
5. Ancestry and Traits: Some tests provide information about your ethnic background or traits like hair color and metabolism.

How Does Genetic Testing Affect Your Health?

Genetic testing can be life-changing in many ways:

  • Early Detection: Knowing your genetic risks allows for early screening and preventive measures.
  • Better Treatment Plans: Doctors can tailor treatments based on your genetic makeup, improving effectiveness.
  • Informed Family Decisions: If a genetic condition runs in your family, testing can help relatives understand their risks.

However, genetic testing also has emotional and psychological effects. Some people feel anxious after learning about potential health risks. Genetic counselling—a session with a specialist—can help you understand results and make informed decisions.

Who Should Consider Genetic Testing?

You might consider genetic testing if:

  • You have a family history of a genetic disorder (e.g., cancer, Huntington’s disease).
  • You’re pregnant or planning a pregnancy and want to check for inherited conditions.
  • You have unexplained symptoms that could be genetic.
  • You want to understand your risk for diseases like diabetes or heart disease.

Consult Top Specialists

Dr. J T Hema Pratima, General Practitioner

Dr. J T Hema Pratima

General Practitioner

9 Years • MBBS

Chennai

Apollo 24|7 Clinic - Tamilnadu, Chennai

recommendation

84%

(250+ Patients)

550

Dr. Rajib Ghose, General Physician/ Internal Medicine Specialist

Dr. Rajib Ghose

General Physician/ Internal Medicine Specialist

26 Years • MBBS

Kolkata

B Ghose Foundation Doctor's Chamber, Kolkata

recommendation

92%

(25+ Patients)

1063

850

Dr. Rajib Ghose, General Practitioner

Dr. Rajib Ghose

General Practitioner

25 Years • MBBS

East Midnapore

VIVEKANANDA SEBA SADAN, East Midnapore

950

850

Dr. Jawwad Mohammed Kaleem, General Practitioner

Dr. Jawwad Mohammed Kaleem

General Practitioner

4 Years • MBBS

Hyderabad

Apollo 24|7 Clinic, Hyderabad

450

Types of Genetic Tests

There are different types of genetic tests, including:

1. Diagnostic Testing: Confirms or rules out a suspected genetic condition.
2. Carrier Testing: Checks if you carry a gene for a disorder that could affect your children.
3. Predictive Testing: Assesses your risk of developing diseases later in life.
4. Newborn Screening: Tests babies for treatable genetic disorders shortly after birth.
5. Pharmacogenomic Testing: Helps determine how your body responds to certain medications.

How to Prepare for a Genetic Test?

Before taking a genetic test:

  • Consult a Doctor or Genetic Counsellor: They will explain the benefits, risks, and what the results mean.
  • Understand Insurance Coverage: Some tests may be expensive, so check if your insurance covers them.
  • Be Mentally Prepared: Results can be life-altering, so consider how you’ll handle the information.

What Happens After the Test?

Once your results are ready, your doctor or genetic counsellor will discuss them with you. They may recommend:

  • Regular Screenings: If you’re at higher risk for a disease, early detection is key.
  • Lifestyle Changes: Diet, exercise, and avoiding certain habits (like smoking) can reduce risks.
  • Medications or Preventive Treatments: Some conditions can be managed with early intervention.

Limitations of Genetic Testing

While genetic testing is helpful, it has some limitations:

  • Not 100% Accurate: False positives or negatives can happen.
  • Can’t Predict Everything: Genes are only one factor; environment and lifestyle also play a role.
  • Ethical and Privacy Concerns: Some worry about how genetic data is stored and used.

Should You Get Tested?

If you’re considering genetic testing, talk to your doctor. They can help determine if it’s right for you based on your medical and family history. If you’d like to explore genetic testing, Apollo 24|7 offers expert consultations and testing services. You can schedule an appointment easily and get reliable, confidential results.

Consult Top Specialists

Dr. J T Hema Pratima, General Practitioner

Dr. J T Hema Pratima

General Practitioner

9 Years • MBBS

Chennai

Apollo 24|7 Clinic - Tamilnadu, Chennai

recommendation

84%

(250+ Patients)

550

Dr. Rajib Ghose, General Physician/ Internal Medicine Specialist

Dr. Rajib Ghose

General Physician/ Internal Medicine Specialist

26 Years • MBBS

Kolkata

B Ghose Foundation Doctor's Chamber, Kolkata

recommendation

92%

(25+ Patients)

1063

850

Dr. Rajib Ghose, General Practitioner

Dr. Rajib Ghose

General Practitioner

25 Years • MBBS

East Midnapore

VIVEKANANDA SEBA SADAN, East Midnapore

950

850

Dr. Jawwad Mohammed Kaleem, General Practitioner

Dr. Jawwad Mohammed Kaleem

General Practitioner

4 Years • MBBS

Hyderabad

Apollo 24|7 Clinic, Hyderabad

450


 

Consult Top Specialists

Dr. J T Hema Pratima, General Practitioner

Dr. J T Hema Pratima

General Practitioner

9 Years • MBBS

Chennai

Apollo 24|7 Clinic - Tamilnadu, Chennai

recommendation

84%

(250+ Patients)

550

Dr. Rajib Ghose, General Physician/ Internal Medicine Specialist

Dr. Rajib Ghose

General Physician/ Internal Medicine Specialist

26 Years • MBBS

Kolkata

B Ghose Foundation Doctor's Chamber, Kolkata

recommendation

92%

(25+ Patients)

1063

850

Dr. Rajib Ghose, General Practitioner

Dr. Rajib Ghose

General Practitioner

25 Years • MBBS

East Midnapore

VIVEKANANDA SEBA SADAN, East Midnapore

950

850

Dr. Jawwad Mohammed Kaleem, General Practitioner

Dr. Jawwad Mohammed Kaleem

General Practitioner

4 Years • MBBS

Hyderabad

Apollo 24|7 Clinic, Hyderabad

450

Dr. Debashis Nayak, Endocrinologist

Dr. Debashis Nayak

Endocrinologist

8 Years • MBBS, DNB (Internal Medicine), PG Diploma ( Diabetes & Endocrinology )

Rourkela

Apollo Hospitals, Rourkela, Rourkela

500

No Booking Fees

Consult Top Specialists

Dr. J T Hema Pratima, General Practitioner

Dr. J T Hema Pratima

General Practitioner

9 Years • MBBS

Chennai

Apollo 24|7 Clinic - Tamilnadu, Chennai

recommendation

84%

(250+ Patients)

550

Dr. Rajib Ghose, General Physician/ Internal Medicine Specialist

Dr. Rajib Ghose

General Physician/ Internal Medicine Specialist

26 Years • MBBS

Kolkata

B Ghose Foundation Doctor's Chamber, Kolkata

recommendation

92%

(25+ Patients)

1063

850

Dr. Rajib Ghose, General Practitioner

Dr. Rajib Ghose

General Practitioner

25 Years • MBBS

East Midnapore

VIVEKANANDA SEBA SADAN, East Midnapore

950

850

Dr. Jawwad Mohammed Kaleem, General Practitioner

Dr. Jawwad Mohammed Kaleem

General Practitioner

4 Years • MBBS

Hyderabad

Apollo 24|7 Clinic, Hyderabad

450

Dr. Debashis Nayak, Endocrinologist

Dr. Debashis Nayak

Endocrinologist

8 Years • MBBS, DNB (Internal Medicine), PG Diploma ( Diabetes & Endocrinology )

Rourkela

Apollo Hospitals, Rourkela, Rourkela

500

No Booking Fees

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