With its first human settlement dating back to 5000 years, Pakistan and its lands has witnessed several population trajectories; translating into the modern age in the form of the several ethnicities found across the country. This diversity is homogenous and is often strengthened by consanguineous marriages as a consequence of antiquated ideas of unity. In recent years, these practices have given rise to a discussion about the viability and potential risks of premarital screening to guarantee that two partners can produce genetically healthy offspring. Alswaidi and O’brien define premarital screening as a medical examination of individuals about to enter into marriage. This test checks for potential risk of blood genetic and infectious diseases like thalassemia, HIV, Hepatitis, etc. On the surface, such facilities present an objectively beneficial proposition for prospective couples. In Pakistan, however, families are often forced to choose between the well-being of their future offspring or pandering to a social setup rife with stigmas and taboos. All stigmas aside, this essay asserts that the implementation of premarital screening schemes can prove instrumental for the welfare of a married couple, the health of their offspring, and the eradication of genetic diseases in successive generations.
Premarital Screening was first deployed in the United States during the 1940s, when members of the African-American community were screened for Sickle Cell Anemia. Shortly after, testing procedures for diseases such as Thalassemia and Haemoglobinopathies were developed for Mediterranean and Asian countries, specifically in regions where the frequency of consanguineous marriage led to a higher occurrence of said diseases. Recent advances in screening techniques and improved accessibility have allowed for a much broader application of premarital screening; the process has significantly contributed to a sharp decrease in the incidence of diseases such as cystic fibrosis and metabolic disorders in the aforementioned regions.
Every year, over 5000 Pakistani children are diagnosed with Thalassemia, a blood disease that lasts a lifetime and is exorbitantly expensive to treat. This high incidence of this genetic disease corresponds to transmittance via carriers who do not exhibit symptoms themselves, and estimates show that Pakistan has more than 10 million carriers of Thalassemia. Practices such as intermarriage and consanguineous marriage lead to a greater risk of genetic disease in offspring since there is an increased possibility of two carriers procreating with each other. This risk is proportional to the degree of genetic closeness of two individuals, so the practice of cousin marriage is especially risky in the context of genetic diseases (including Thalassemia). In scientific terms, this relationship rests on the genetic pillars of dominant and recessive gene expression: members of the same family can be heterozygous carriers of a disease-causing gene, and if two heterozygous individuals reproduce, there is a small but significant chance that their offspring will inherit two recessive genes from either parent and express the disorder. Premarital screening, especially for couples in consanguineous marriages, is hence an essential step and merits its establishment in Pakistan.
Several countries have introduced schemes for accessible premarital testing in recent years. Due to the high levels of consanguinity, premarital thalassemia screening has long been standard practice in Cyprus, Greece, and Italy. Several countries, including Bahrain, India, the Islamic Republic of Iran, Indonesia, Malaysia, the Maldives, Singapore, Thailand, and most recently, Saudi Arabia and the United Arab Emirates, have implemented similar preventive measures. In China, prospective spouses are required to undergo a series of tests, including physical examinations, before they are allowed to marry. Furthermore, the UK and several European countries also allow for abortion if genetic abnormalities are detected during early pregnancy. As evident above, there is global acceptance for premarital screening, and existing implementation frameworks from the countries listed above can prove to be a valuable resource for Pakistan. More significantly, several predominantly Muslim countries have taken initiatives along these lines, offering a benchmark to Pakistan.
The medical benefits of premarital screening are well-documented and reported across several journals. It is known to reduce the risk of genetic and infectious diseases in one’s offspring. For a country like Pakistan, where healthcare is often prohibitively expensive for a large majority of the population, treatments for long-term illnesses such as Thallasemia and Cystic Fibrosis are practically unaffordable. Beyond the quantifiable, dealing with a long-term illness is often stressful for all members of a family; evidence shows that illnesses such as Thalassemia leave patients’ families with lasting psychological and social impairments[3]. Patients are often ostracized, leaving their families to bear their burden. If implemented effectively, premarital screening could mitigate the incidence of such diseases and save thousands of families from a severe financial burden and undue social pressure.
In some cases, premarital screening can be a vital tool for medical professionals to guide couples in situations where they are willing to take risks in spite of the results obtained. Several techniques can be employed to minimize the potential risk and reduce its psychological, social, and physiological impact on their offspring. With readiness and proper planning, families at risk of diseases can live healthy and prosperous married lives. As of today, a number of leading laboratories offer such family health packages in Pakistan, including Chughtai Lahore Labs and the Agha Khan University Hospital.
However, Pakistan’s complex socio-religious landscape has undoubtedly contributed to the current status of premarital screening. Religious scholars have argued that basing the decision to marry someone on the results of a test goes against the ideas of destiny and predestination in Islam. This interpretation extends to severe cases where aborting a pregnancy may become necessary, embroiling the practice in controversy. Furthermore, Pakistani culture places a strong emphasis on the compatibility of a couple’s families and social standing when arranging a match, which often relegates the results of premarital testing to a much less significant position. The cultural stigma surrounding premarital screening and the lack of importance given to it can limit the general public’s willingness to undergo the process.
The limited acceptance of premarital screening in Pakistan is also directly impacted by its inaccessibility. The process in its current form is both expensive and geographically limited. Consequently, a majority of Pakistan’s rural population is unable to access testing facilities, and a major portion of the urban population is priced out of them due to their financial situation. Since premarital screening is not mandated by Pakistani law, access to it is currently restricted to the affluent few.
Based on the outline presented above, making premarital screening accessible is the first step toward the process’ widespread acceptance. One of the potential corrective measures proposed is the introduction of legislation that mandates screening procedures for common genetic disorders. In 2018, a bill was passed to implement screening for thalassemia, with couples who bypass the testing being punished with a fine of up to 100,000 [6]. While this bill was approved by the Government of Punjab, it has yet to be implemented by the federal legislature despite several attempts to achieve this goal. Regardless, such initiatives could prove to be pivotal for safeguarding the future of Pakistani society and winning over the masses by highlighting the benefits of premarital screening to a much wider audience.
There is significant evidence to suggest that the benefits of premarital screening strongly outweigh the perceived limitations. As things stand, though, Pakistan is far from availing the vast benefits of an established premarital screening network and is falling behind the global community in this regard. The country can, however, still take advantage of its late-mover advantage; the experiences of other nations can prove valuable in negating both the social and economic challenges faced. More importantly, accessibility and education are key to ensuring that the people of Pakistan make the most of this revolutionary development.