Importance of genetic counselling

Muhammad Abbas

Genetic counselling is an essential component of healthcare which informs patients and their families about genetic anomalies, inheritance patterns, and related risks and effects. The genetic counselling has become important in Pakistan as a result of the high number of consanguineous marriages (marriages between close relatives) and the risk of inherited genetic diseases that go along with them.

Consanguineous marriages are very common in Pakistan, especially in backward areas like villages which increase the risk of genetic diseases. By using genetic counselling people can more clearly understand the risks and make informed decisions regarding family planning. In Pakistan, genetic conditions like thalassemia, hemophilia, and other metabolic disorders are fairly prevalent. The genetic counselling educates families about conditions like their patterns of inheritance, and likely course of therapy.

By conducting tests to determine whether a person contains a gene that can cause a condition, the genetic counselling helps in prevention of genetic illnesses. Additionally, it can check for genetic problems in embryos before they are implanted in the uterus. Early diagnosis of diseases enables better management of them. There are numerous sizable medical facilities in Pakistan that offer genetic counselling services. These services are typically provided by clinical geneticists and genetic counsellors who have professional training in genetics and counselling.

The provision of genetic counselling services in Pakistan is considerably aided by both the genetic centers and non-governmental organizations (NGOs). They frequently focus on disseminating information about genetic diseases, providing assistance to the affected families, and promoting carrier testing. To prepare professionals who can deliver these services in clinical settings, certain institutions in Pakistan offer courses and programs in genetic counselling.

Despite the importance of genetic counselling still only few people are aware of its benefits. Many people might not be familiar with the concept of genetic abnormalities or the purpose of genetic counselling. Some social groupings might associate stigma with genetic anomalies. The genetic counselling and testing may be avoided by those who fear discrimination or social exclusion. Given that genetic counselling services are more prevalent in urban centers and large cities, people who live in remote or rural locations may only have limited access to them. Lack of resources, such as qualified genetic counsellors and cutting-edge genetic testing facilities, could affect the accessibility and caliber of the genetic counselling services.

Services for genetic counselling are being improved in Pakistan. Public health initiatives and educational campaigns are being introduced to raise awareness of hereditary disorders and the importance of genetic counselling. More professionals are receiving training to become genetic counsellors in order to alleviate the shortage of skilled personnel in the field. Cooperation among medical facilities, academic institutions and international organizations is increasing genetic research and raising the standard of counselling services. The importance of genetic counselling as a vital service for resolving the problems brought on by hereditary disorders, particularly in the setting of consanguineous marriages, is also becoming more commonly acknowledged in the country. Despite having obstacles, efforts are being made to broaden access, improve understanding and raise the overall caliber of genetic counselling services provided across the homeland.

The writer is a PhD scholar at the Centre for Omic Sciences, Islamia College University, Peshawar. He can be reached at: muhammadabbas396@gmail.com.


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