Implementation of public health genomics in Pakistan

Abstract

There has been considerable recent progress in the implementation of public health genomics policy throughout the developed world. However, in the developing world, genetic services still remain limited, or unavailable to most. Here, we discuss challenges and opportunities related to the implementation of public health genomics in developing countries. We focus on Pakistan, a country with one of the world's highest rates of inter-family marriages and prevalence of inherited genetic conditions. Pakistan still lacks a national newborn screening programme, clinical genetic testing services, or public health genomics framework. The medical infrastructure in Pakistan, characterized by limited publicly-funded health services and a significant burden of infectious disease, may contribute to de-prioritization of genetic health services. In addition, there are a number of societal, cultural and religious factors to consider. Recently a number of large research studies have been conducted in populations of Pakistani descent, mostly in collaboration with major US, UK and European institutions. Some of these have yielded high-impact scientific findings, but have yet to translate into public health outcomes in Pakistan. Before the benefits of genomics can be realized in developing countries, the first initial steps towards strategic prioritization, resourcing, and long-term goal setting are required. We propose some practical recommendations and possible first steps forward.

Public health effects of travel-related policies on the COVID-19 pandemic: A mixed-methods systematic review

“…We considered as a policy any statement or position taken by a government or a government department in response to a public problem. Eligible policies included but were not limited to 9 :…”

“…We considered as a policy any statement or position taken by a government or a government department in response to a public problem. Eligible policies included but were not limited to 9 :  For international travel: screening/testing arrivals, quarantine of arrivals from some or all regions, banning arrivals from some regions, and banning arrivals from all regions or total border closure  For domestic travel: recommendation for not traveling between regions/cities and restrictions on internal movement between regions/cities The comparator could be either the absence of a travel policy, another travel policy, or a nontravel policy (e.g., lockdown, contact tracing in the community).…”

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

“…Pakistan has one of the highest prevalence of inherited genetic diseases in the world [13], likely due to the high consanguinity rate of its population, generally exceeding 50% [11,12,14]. In this country, marriages of first cousins are highly favored, and families from Pakistan are considered a valuable resource for medical genetics research, which has led to significant scientific findings in the recent past [13,43]. Several studies on IRDs have been conducted in Pakistan during the last few years, but the majority of them were based on pedigrees from the Punjab and Sindh provinces [17][18][19][20].…”

“…Since children of consanguineous couples are more likely than children of non-consanguineous parents to be affected by recessive genetic anomalies [11], the incidence of rare Mendelian diseases is higher in populations having a high degree of endogamy [12]. For example, Pakistan has one of the highest rates of inherited genetic diseases in the world, likely due to the fact that consanguinity is present in more than 50% of the population and marriages among first cousins are highly favored by the society [13,14]. According to a recent estimate, approximately 1.12 million people in Pakistan are blind, and the vision loss burden has continued to rise in the country since 1990 [15].…”

More than sample providers: how genetic researchers in Pakistan mobilized a prenatal diagnostic service for thalassemia

“…During the last decade, prenatal diagnostic services for thalassemia alongside other congenital conditions have been on the rise within both the public and private sector in a number of major cities in Pakistan. However, recent developments notwithstanding, genetic services still remain limited or unavailable in most parts of the country, due to lacking regulation of medical genetics services and limited resources for developing clinical genomics expertise (Riaz 2019). Geneticists have highlighted how the accumulation of thalassemia and many other genetic mutations in Pakistan are rooted in cultural forms of kinship i.e., closed caste systems and intrafamily marriage practices which create and maintain biological specificities over generations (Fareed and Afzal 2017).…”