The Pakistan Genetic Mutation Database (PGMD), which already covers 1,000 mutations implicated in 120 types of syndromic and non-syndromic disorders, was built using the PubMed database of references and abstracts as well as consultations with the country’s leading genetic scientists.
Saadullah Khan, PGMD’s chief coordinator, assistant professor of biotechnology and genetic engineering in Kohat University of Science & Technology, and an author of a report on the project published in December 2017 in the European Journal of Medical Genetics, says the database is valuable in Pakistan where marriages among close cousins are common.
According to information on the PGMD website, the rate of consanguineous marriages (marriages among close cousins) in Pakistan is 62.70 per cent — by far the highest among countries in the ‘consanguinity belt’ which includes several countries of the Middle East where the rate averages at 40 per cent.
“The medical risks of first-cousin marriages include higher rates of infant mortality, birth defects, learning difficulties, blindness, deafness, dumbness, epilepsy, thalassemia, spontaneous abortion, infertility, stillbirth and metabolic disorder”
Khan said that work to identify genes responsible for various diseases, which showed up a number of mutations, led to the development of the PGMD. “The high ratio of first degree consanguinity makes the Pakistani population a rich source for various kinds of genetic disorders.”
Khan tells SciDev.Net that while the PGMD will assist researchers, clinicians and genetic counsellors, high priority has been given to ensure security and confidentiality. “To avoid chances of data being compromised or used in any questionable way, we have kept secret the identities, addresses, ethnicity, locality, gender etc., of individuals.”
Experts say that about 29 million people out of Pakistan’s 200 million population suffer from genetic defects attributable to close or first-cousin marriages. “The medical risks of first-cousin marriages include higher rates of infant mortality, birth defects, learning difficulties, blindness, deafness, dumbness, epilepsy, thalassemia, spontaneous abortion, infertility, stillbirth and metabolic disorders,” says Haider Shirazi, chief paediatrician at the Pakistan Institute of Medical Science.
Chief genetic and biotechnology scientist at the National Institute of Biotechnology and Genetic Engineering, Shahid Mansoor, says the PGMD is a breakthrough that can help promote genetic screening and counselling, and create public awareness about the role of inbreeding in genetic disorders.
“Motivating people to undergo pre-marriage genetic tests and avoid cousin marriages — which accounts for over half of (Pakistani) marriages — are important for healthy future generations,” Mansoor says.
This piece was produced by SciDev.Net’s Asia & Pacific desk.