(PGMD): Pakistan is a victim of many inherited genetic disorders due to the trend of cousin marriages. By establishing a mutome that is a genetic mutation database that will help provide genetic counseling and screening, and aid in personalized healthcare according to the software developers.
Pakistan Genetic Mutation Database (PGMD) by using PubMed database of references and abstracts as well as consultations with leading genetic scientists of the country has made this software. PGMD is covering around 1,000 mutations implicated in 120 types of syndromic and non-syndromic disorders.
The database is of extreme importance to country like Pakistan where cousin marriages are common in society said 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.
Higher rates of infant mortality, birth defects, learning difficulties, blindness, deafness, dumbness, epilepsy, thalassemia, spontaneous abortion, infertility, stillbirth, and metabolic disorder are few of the medical risks of first cousin marriages.
In Pakistan, the percentage of consanguineous marriages (cousin marriages) is 62.70%, highest among countries of ‘consanguinity belt’. Whereas the percentage is 40 in Middle East countries.
Pakistan has a rich population having various kinds of genetic diseases or disorders that make Pakistan high in first-degree consanguinity. PGMD have found a number of mutations by different researchers said, Khan.
“In order to ensure security and confidentiality on a priority basis, PGMA will assure their assistance to researchers, clinicians and genetic counselors. The identities, addresses, ethnicity, locality, gender etc., of individuals, will be kept secret to avoid the misuse of data”, Khan informed SciDev.Net.
Experts said that due to close or first-cousin marriages about 29 million out of 200 million population of Pakistan is suffering from genetic defects.
Haider Shirazi, chief pediatrician at the Pakistan Institute of Medical Science has said that medical risks related to first-cousin marriages include high infant mortality, birth defects, learning difficulties, blindness, deafness, dumbness, epilepsy, thalassemia, spontaneous abortion, infertility, stillbirth and metabolic disorders.
PGMD is a breakthrough that can help to create public awareness about the role of inbreeding in genetic disorders and promote genetic screening and counseling said Shahid Mansoor, chief genetic and biotechnology scientist at the National Institute of Biotechnology and Genetic Engineering.
Mansoor further said that avoid cousin marriages and undergo pre-marriage genetic tests are important for a healthy generation in future.