Genes, Health and Genetic Testing in Pakistan

Understanding what lifestyle to choose for a healthy life can be overwhelming. There is much to know about health and disease, to protect both yourself and your family, and among the myriad of questions that arise when you think about diseases, one question is often neglected: how is genetics linked to a disease? And more importantly, what is genetics? Or, what is a gene?

What is a gene?

Genes function as fundamental units of your biological makeup. Sometimes working alone, sometimes influenced by the environment, they determine your appearance, interests, disease susceptibility and much more. They hold authority by producing protein products that are present in the entire body, working different roles.

Essentially, a disease or a disorder occurs because of either an external or internal factor. Among the numerous causative internal factors, gene mutations are one. As I previously mention, genes function as the fundamental units of biological makeup, analogous to individual components in a complex pipeline network. When one or more of these components contains a defect, the integrity of the entire system becomes compromised, ultimately affecting overall functionality and performance.

Thalassemia serves as an excellent example, particularly for the Pakistani population. HBA or HBB gene, in a body, produce alpha and beta globulin chains, that undergo structural conformation to produce a fully-functioning hemoglobin molecule. This hemoglobin, in addition to carrying oxygen, performs a plethora of roles, such as maintaining shape and flexibility of RBCs. In a case where HBA or HBB gene dysfunctions, truncated, non-functional globulin chains are produced which, ultimately, affects oxygen transport and RBC integrity and lead to conditions such as, anemia and an enlarged spleen. As of 2022, about 5000 children* are diagnosed with B-thalassemia (a severe form of thalassemia), each year in Pakistan, and there are more than 10 million thalassemia carriers in the country.

Another example would be hemophilia, a genetic blood disorder prevalent in Pakistani population. F8 and F9 genes, in a functioning state, produce clotting factors VIII and IX which help in blood coagulation (they are essential in stopping a bleeding wound). When these genes malfunction, the body faces a deficiency of clotting factors leading to prolonged bleeding, easy bruising, and internal hemorrhages. A 2025 retrospective study* presents 56.41% cases of hemophilia as having a positive family history, highlighting that a lot of genetic disorders not only genetic in nature but inherited across generations too.

Diagnosis

The diagnosis of such disorders is a multi-step procedure. Unless a remarkable physical symptom is observed, a physician does not confirm the presence of a genetic disorder. The physician, however, may suspect it and order a biochemical test. In presence of a genetic disorder, the amount and structural and functional integrity of protein products may be disrupted, and if so, it shows up in laboratory reports. For a confirmed diagnosis, genetic testing is a great option available.

To perform a genetic test, a technician takes a specimen of DNA, in the form of blood, saliva, a tissue sample, a cheek cell sample, or amniotic fluid (in pregnancies). The specimen is analysed for any abnormalities using different techniques.

What does a genetic test do?

Beyond confirming a suspected diagnosis, a genetic test helps your doctor understand your body at a molecular level and identify the following:

1. Any mutation in your genes that is causing your condition
2. Predisposed mutations that increase disease risk
3. Hereditary conditions that run in your family (familial/inherited disorders)
4. Carriers to screen for recessively inheriting disorders
5. Germline mutations that can be passed down to your children (diagnosed through preconception or prenatal screening)
6. Chromosomal aberrations in a fetus via prenatal cytogenetic testing
7. How your body will respond to certain medications
8. Genetic traits, such as eye color, hair type, or even athletic potential
9. Genetic markers for ancestral lineage and ethnic origins tracing
10. Nutritional and metabolic tendencies, such as lactose intolerance

How does a genetic test benefit you?

By getting a genetic test, you will find a clear underlying cause for your condition. This helps you better manage the disease, improve your living condition, and even prevent further damage, in some cases, such as phenylketonuria (a rare phenylalanine metabolism disorder).

Irregularities can be passed down to your children. Take thalassemia, for instance. With 10 million carriers of thalassemia in the country, it’s crucial that you and your partner get tested to see if you carry the same mutation as well. Genetic testing provides this clarity. If you or/and your partner do, alternatives like surrogacy or adoption may be more suitable. In case you’re already expecting a baby and want to check if everything’s fine, prenatal screenings help monitor fetus development and detect any mutations early. In case of any abnormalities, you can choose to abort a pregnancy or prepare ahead of time for the situation.

Beyond inherited risks, genetic testing also guides preventive decisions. You can reduce the risk of diseases, like cancer, by getting proactive treatments. Some people, for instance, get a mastectomy done to reduce the risk of breast cancer in their life.

* Khaliq S. Thalassemia in Pakistan. Hemoglobin. 2022; 46(1). Available from: https://pubmed.ncbi.nlm.nih.gov/35950582/

* Fatima S., Khan M., et. al. Clinical and Genetic Characteristic of Hemophilia Patients in Pakistan: A Retrospective Study. Global Journal of Clinical Medicine and Medical Research. 2025.