- Who is this package designed for?
This package is designed for parents whose infant or child has suffered from recurrent and severe infections: otitis media that does not respond well to antibiotics, recurrent pneumonia, resistant sinusitis, chronic diarrhea, or fungal infections of the skin and mucous membranes that do not respond to standard treatment.
If you have spent sleepless nights in the pediatric emergency department, or if doctors have repeatedly prescribed antibiotics for your child without knowing why the infections keep coming back, this package is specifically designed for you.
- What specialized perspectives make up this package?
To address this need, PharOmics brings together three specialized perspectives. Each perspective illuminates one dimension of your child's immune system.
First Perspective (Core): Screening for B-cell and T-cell Deficiencies
This domain, which forms the clinical heart of the package, examines your child's genetic predisposition to antibody production defects (B-cell deficiency) and cellular immunity defects (T-cell deficiency). This tells us whether your child's immune system is capable of building enough soldiers to fight infections. Understanding this is the first and most critical step toward early diagnosis of primary immunodeficiency – conditions that are manageable when detected early but can be life-threatening when diagnosed late.
Second Perspective (Supplement Level One): Assessment of Phagocyte Function and the Complement System
This domain, as the first specialized supplement, examines two other lines of immune defense: phagocytes (the "scavenger" cells that engulf and destroy bacteria) and the complement system (a group of proteins that help antibodies eliminate microbes). This tells us whether your child has a genetic predisposition to phagocyte defects (such as chronic granulomatous disease) or complement protein deficiencies. Identifying these defects enables prevention of specific infections that are common in these children.
Third Perspective (Supplement Level Two): Predicting Response to Live and Inactivated Vaccines
This domain, as the second specialized supplement, examines your child's genetic predisposition to adverse reactions to live vaccines (such as BCG, MMR, and varicella). Some children with hidden immunodeficiency develop disseminated and severe infections after receiving live vaccines. This tells us which vaccines are safe for your child and which may be dangerous. Knowing this before vaccination is a critical preventive measure.
- Why are these three perspectives placed together?
A weak immune system can have various causes. Sometimes the problem is in antibody production. Sometimes the problem is in T-cells, which command the battle. Sometimes the problem is in phagocytes, the front-line soldiers. Sometimes the problem is in complement proteins, which coordinate communication between these cells.
These three perspectives have been brought together to draw a complete picture of your child's immune system – not just one piece of the puzzle, but the entire map.
Layer One: Solving the Existing Challenge – Diagnosing Hidden Immunodeficiency
Some children are born with immunodeficiency but remain undiagnosed for months or years because their initial symptoms resemble common childhood infections. This layer of the package finds the exact root of the immune weakness and provides a practical solution for managing recurrent infections. You no longer have to make decisions in the dark; you will know exactly what type of immunodeficiency your child has and what actions are necessary.
Layer Two: Prevention and Enhancement – Preventing Life-Threatening Infections Before They Occur
But PharOmics does not only think about "treating the current infection." A significant part of the package's value lies in identifying "future risks." This layer tells you which infections are more likely in your child (fungal, bacterial, or viral), which vaccines are dangerous, and what preventive measures (such as antibiotic prophylaxis or intravenous immunoglobulin) will prevent life-threatening infections.
Layer Three: Forward-Thinking – Preparing for Personalized Medicine
The world of medicine tomorrow is fundamentally different from today. Countries such as the United Arab Emirates, Saudi Arabia, Estonia, Japan, and South Korea have launched national genome programs. Artificial intelligence and future smart health services will be heavily dependent on fundamental, reliable genomic data. Those who have their child's genomic data today will be first-class citizens of that world. The Primary Immunodeficiency Screening package puts this data in your hands today.
- Added value compared to separate reports
You might ask: "Why can't I just order the B-cell and T-cell screening and add the rest later?"
If you order each of these three areas separately, you will receive three separate files. You yourself will have to sit down and try to connect a "possible B-cell deficiency," "weakness in phagocytosis," and "a dangerous reaction to the BCG vaccine." This is not only time-consuming but may also lead you to incorrect conclusions – and when it comes to immunodeficiency, any mistake can be very costly.
But in the Primary Immunodeficiency Screening package, these three pieces are assembled together and interpreted for you in a specialized manner. You receive one integrated report that tells you: "Based on your child's genetic profile, the immunodeficiency is of the antibody-deficiency type. His management plan should include monthly intravenous immunoglobulin, daily antibiotic prophylaxis, and complete avoidance of live vaccines. Coordinate this plan with a pediatric immunology specialist."
This "cross-interpretation" is the true added value of the package – something you will never achieve with three separate reports.
- PharOmics' competitive advantage in this package
After a detailed review of the websites of major international companies in the field of primary immunodeficiency genetics – including Blueprint Genetics (Finland), Invitae (USA), and the Immune Deficiency Foundation – the strategic advantages of PharOmics can be identified, including the following:
From "Specialized Panel" to "Challenge-Driven Package": International competitors offer highly specialized genetic panels (for example, Blueprint Genetics' PID panel includes 336 genes, and Invitae's panel covers over 429 genes). However, these panels are merely a "list of genes," and the user must search through a mass of raw data themselves. PharOmics has designed the package around the concrete challenge "Why does my child keep getting infections?" The user does not need to know what the "RAG1" or "IL2RG" gene is. This challenge-driven structuring is not seen in any international platform.
Integration of "Child's Genetics" with "Lifestyle": International panels exclusively analyze DNA. In the PharOmics PID package, the child's genetic data is combined with a specialized maternal questionnaire (including vaccination history, breastfeeding patterns, history of previous infections, and response to antibiotics). This dual-mode interpretation (genome + lifestyle) does not exist in international platforms.
"Prescription-Like" Output Instead of "Raw Data": The output of PID panels from Blueprint Genetics or Invitae is a multi-page clinical report filled with gene names, variants, and references to databases such as ClinVar and HGMD. This report is difficult for a mother or even a general practitioner to use. The output of the PharOmics PID package is a practical action plan: "Your child should not receive the BCG vaccine," "Daily antibiotic prophylaxis is necessary," "Immunoglobulin levels should be checked every 3 months." This common language between the laboratory and the physician is PharOmics' greatest advantage.
Localization for the Iranian and Middle Eastern Population: International reference databases (such as ClinVar, gnomAD, and ExAC) are mainly based on European populations. Immune deficiencies specific to Iranian-Islamic populations (such as the high prevalence of certain autosomal recessive SCIDs in consanguineous marriages) are not seen in international algorithms. Relying on specialists from the Department of Medical Genetics at Tehran University of Medical Sciences and local biobanks, PharOmics increases interpretation accuracy for the Iranian and Middle Eastern population.
PharOmics Plus – Transforming the Test into a Growing Asset: Most international companies sell a test once and then leave the user. By activating PharOmics Plus, the child's genomic data is stored in the biobank. If a new gene associated with immunodeficiency is discovered two years later, your child's report will be updated at no additional cost and without the need for re-sampling. Furthermore, if a clinical trial relevant to your child's genotype exists (such as gene therapy for SCID), you will have priority invitation as a biobank member.
- Summary: What exactly do you gain from this package?
- Whether your child has an antibody production defect (B-cell deficiency) or a cellular immunity defect (T-cell deficiency)
- Whether they have a genetic predisposition to phagocyte defects or complement system deficiencies
- Which live vaccines (such as BCG, MMR, and varicella) are safe for your child and which may be dangerous
- What preventive measures (antibiotic prophylaxis, intravenous immunoglobulin, or bone marrow transplantation) are necessary for them
- And above all, the "peace of mind" that comes from ending fruitless trial and error – starting today, you know exactly what to do so that your child does not experience another infection
