Types of Genomic Testing: A Comprehensive Guide

Introduction

Genomic testing is a cutting-edge tool revolutionizing modern healthcare. By helping decode an individual’s DNA, RNA and cellular markers, healthcare professionals can now detect diseases earlier, recommend preventive measures, personalize treatments, and guide family planning decisions. Unlike traditional genetic tests that are invasive and offer generalized treatment plans, genomic testing follows a precision-driven approach.

Let’s understand more about genomic testing, how it works, and more in this blog! 

What Is Genomic Testing?

Genomic testing involves analyzing a person’s DNA, genes, chromosomes, and proteins to identify patterns and variations that may influence their health or disease risk. 

Unlike traditional genetic tests that target a single gene at a time, genomic testing examines larger genomic segments or even the entire genome to give a complete picture of an individual’s genetic makeup.

We’ve got you a simple comparison of how genomic testing differs from genetic and molecular testing:

Process of Genomic Testing

At FSG Labs, the process of genomic testing typically includes the following steps: 

1. Sample collection: The first step in genomic testing is the collection of a biological sample —usually blood, saliva, or tissue—from which DNA is extracted. The process is non-invasive or minimally invasive.
2. Sequencing: Using advanced sequencing technologies, experts at FSG labs read the order of nucleotides (A, T, C, G) in the genome and detect variations such as mutations, deletions, and copy number changes.
3. Data analysis: Once the data is generated, bioinformatic algorithms compare it to reference genomes using databases to identify any differences that could affect health. 
4. Clinical interpretation: After the report is generated, it is reviewed by a genetic counsellor and a doctor to have them interpret the results. The doctor will provide tailored recommendations.

Different Types of Genomic Testing

There are five primary types of genomic tests:

• Diagnostic testing: This type of genomic test is used to determine whether an individual has a certain genetic disorder. These genomic tests are used mainly when a patient has symptoms or a family history of a condition. Diagnostic genome testing can include single-gene tests or multi-gene panels.
• Predictive testing: Predictive tests are recommended for individuals without signs or symptoms of a disease but with a strong family history that suggests an increased risk for a condition. This type of genomic testing includes presymptomatic testing and carrier testing.
• Pharmacogenomic testing: This type of genomic sequencing helps clinicians select effective drugs and dosages tailored to individual genetic profiles.
• Tumor profiling: Analyzing tumor DNA can help detect mutations that may be driving cancer progression, enabling targeted therapies tailored to the tumor’s specific genetic makeup.
• Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS): These genomic tests are used to diagnose a condition when conventional diagnostic tests yield no results.

Where is Genomic Testing Used? 

Genomic testing has several applications in medicine. 

• Reproductive health

Genomic testing is beneficial in family planning, pregnancy management, and fertility treatment. It can be used in the following ways:

1. 1. Non-Invasive Prenatal Testing (NIPT): This test can be performed anytime after the 10th week of pregnancy and helps screen for chromosomal abnormalities such as Down syndrome, with high precision and without risk to the fetus. It can also determine fetal gender and Rh status.
   2. Preimplantation Genetic Testing (PGT): Genomic testing is routinely used in assisted reproductive procedures, such as IVF, to analyse embryos for genetic disorders, ensuring only healthy embryos are implanted.
   3. Miscarriage and multiple pregnancy loss: When a couple undergoes multiple miscarriages or pregnancy loss, healthcare providers may recommend genomic testing to understand the genetic or chromosomal causes behind them. 
   4. Infertility genetic testing: Genomic testing can help in examining genetic factors affecting male and female fertility, including Y-chromosome deletions in males and chromosomal imbalances or premature ovarian failure genes in females.

• Oncology

Genomic testing has become a valuable tool in providing personalised cancer care. It is routinely used for:

• • Screening for BRCA1/BRCA2 mutations: These genes are associated with an increased risk of breast, ovarian, prostate, and pancreatic cancers.
  • Comprehensive hereditary cancer panels: These multi-gene panels cover more than 160 genes linked to various hereditary cancer syndromes, such as Lynch syndrome.

• Haematology

Genomic testing also supports the diagnosis and management of blood disorders, such as thalassemia and sickle cell disease, which are prevalent in many populations worldwide. 

It also forms a part of Comprehensive Blood Disorder Panels, which assess a range of conditions, including haemophilia, Von Willebrand disease, and clotting disorders. 

Early detection of these conditions dramatically improves patient outcomes through targeted therapy.

• Immunogenetics

Genomic testing has been instrumental in improving transplant outcomes and managing autoimmune diseases. It enables:

• • HLA Typing: Matches donors and recipients for organ and bone marrow transplants, reducing the risk of rejection.
  • Donor-Recipient Matching: Ensures optimal compatibility for stem cell transplantation.
  • Autoimmune Predisposition Analysis: Identifies a genetic predisposition to autoimmune diseases such as lupus, rheumatoid arthritis, and multiple sclerosis.

• Consumer genomics and wellness 

Genomic testing can be used in consumer wellness to empower individuals to proactively manage their health and longevity.

This can be done by supporting personalized lifestyle optimization in the following ways:

• • Tailor dietary and fitness regimes in wellness packages by analyzing genes related to metabolism, nutrient absorption, exercise response, and disease risk.
  • Determine stress response, skin ageing, athletic performance, and nutrigenomics.

• Infectious disease screening 

Genomic tools enhance the screening and management of infectious diseases. It is beneficial for: 

• • Detecting and categorizing Human Papillomavirus (HPV) strains to guide cervical cancer screening and treatment.
  • Screening simultaneously for multiple infections like HIV, syphilis, gonorrhea, and chlamydia with rapid and accurate tests.
  • Detecting infectious agents and antibiotic resistance genes allows targeted therapies.

How to Choose the Right Genomic Testing Lab?

When choosing a lab for genomic testing:

• Always pick ones with GMP, ISO, CAP, or CLIA certifications. 
• Ask your genomic test provider about the test’s accuracy, scope, and result interpretation. 
• Check for the availability of genetic counselling and how outcomes may influence care

Choosing the right lab for a genomic test ensures accurate results. This also depends on: 

• Use of cutting-edge technology platforms like NGS and real-time PCR
• Presence of experienced molecular specialists ensuring quality control throughout.
• Transparent reporting and ongoing updates as genomic knowledge expands.

When you visit First Stem Cell and Genomics Laboratory, Dubai, our genetic experts will help you select the most appropriate genomic test depending on the following factors:

• Purpose: Diagnosis, prevention, family planning, treatment, or wellness.
• Clinical indications: Symptoms, personal or family history, timing (prenatal, diagnostic, preconception).
• Scope of the test: Single-gene vs. panels vs. whole exome/genome.

What are the Limitations of Genomic Testing?

No genomic test captures every genetic variation. Even with genomic testing, variations of uncertain significance (VUS) may still arise and require further research.

At the same time, negative results do not mean the absence of risk. In case of incidental findings unrelated to the initial test, they may require clinical follow-up.

Conclusion

From single-gene tests to comprehensive genomic medicine, there are various types of genomic tests available, serving critical roles across medicine—from reproductive health to diagnostics and cancer care. 

Understanding all available options helps patients use genomic insights to drive proactive, personalized healthcare decisions and improve outcomes.

Frequently Asked Questions About Genomic Testing

What is the difference between genomic and genetic testing?

Genetic testing targets single genes, whereas genomic testing is a more comprehensive test that examines broader gene sets or entire genomes.

Which type of genomic testing do I need?

The type of genomic testing you need will depend on factors such as the test’s purpose, clinical indications (e.g., symptoms), personal or family history, and the timing of the test.

How is genomic testing performed?

• Pre-test evaluation
• Sample collection
• DNA extraction 
• Sequencing
• Data analysis
• Report generation
• Counselling

How accurate is genomic testing?

Genomic testing is highly accurate, but its accuracy varies depending on the test scope and technology used. Some variants may require confirmation from a genetic counsellor.

How long does it take to get results?

It may take anywhere from days to weeks to receive your test results, depending on the test’s complexity.

What happens if my test finds a genetic variant?

Your healthcare provider will explain its significance and next steps.

Do I need genetic counselling?

After receiving your genomic test results, you will require genetic counselling to understand the implications and make informed health decisions.

Can genomic testing predict all diseases?

No, some conditions have complex or unknown genetic bases and may not be detected by genomic testing.

What is the difference between diagnostic and predictive testing?

Diagnostic genetic testing confirms or rules out a known or suspected genetic disorder in individuals who already exhibit symptoms, whereas predictive (or presymptomatic) testing is offered to those without symptoms but with a family history of certain genetic conditions.

Is genomic testing only for people with symptoms?

Genomic testing can benefit both symptomatic and asymptomatic individuals. 

What are variants of uncertain significance (VUS)?

A variant of uncertain significance (VUS) is a gene change (mutation) identified during testing whose impact on health is not yet known. These findings occur because many genetic variations are rare or understudied. 

How do I choose a reputable testing laboratory?

• Look for clinic accreditation 
• Availability of advanced sequencing technology
• Presence of strong bioinformatics capability
• Transparent reporting
• Maintenance of data privacy
• Provides clear result interpretations

Can genomic testing results change over time?

Yes. As genomic science evolves, previously uncertain or misclassified variants can be reinterpreted based on new evidence.

What is pharmacogenomics, and who needs it?

Pharmacogenomics is the study of how a person’s genes influence their response to medications. This test is especially valuable for individuals taking multiple medications, those with unusual drug reactions, or patients beginning long-term therapies such as cancer treatment or psychiatric medications.