ReviewEuropean journal of human genetics : EJHG2019
Implementation of public health genomics in Pakistan.
Review in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Public health effects of travel-related policies on the COVID-19 pandemic: A mixed-methods systematic review.The Journal of infection · 2021Pooled it
- Genetic services in Pakistan: a review highlighting limitations and opportunities for improvement.Journal of community genetics · 2026Article
- Article
- Unlocking the potential of Asian genomic data: a collaborative framework for precision medicine innovation.GigaScience · 2026Review
- Barriers To Genetic Testing Adoption in Oncology: A Cross-Sectional Survey from Pakistan.Journal of cancer education : the official journal of the American Association for Cancer Education · 2026Article
- Imagining Genomics and Population Health in 2050: Anticipating Future Research, Policy, and Governance Needs.Public health genomics · 2026Article
- Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.Journal of human genetics · 2025Article
- Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.Molecular vision · 2025Article
- Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.Clinical genetics · 2025Article
- Primary Amenorrhea in a 15-Year-Old Girl Leading to the Diagnosis of Bardet-Biedl Syndrome: A Case Report.Clinical case reports · 2025Article
- Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns.Journal of community genetics · 2024Article
- Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.BMC neurology · 2024Article
- Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics.Journal of community genetics · 2024Article
- Spinal muscular atrophy type 1: A fatal case in a 1-year-old girl with delayed diagnosis.Clinical case reports · 2024Article
- Developing medical genetics in a low-income country: Unveiling the journey of the Pakistani Society of Medical Genetics and Genomics (PSMG).Genetics in medicine open · 2024Article
- A scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment.AIMS public health · 2024Review
- Physicians' use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study.Orphanet journal of rare diseases · 2023Article
- Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.Intractable & rare diseases research · 2023Article
- The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review.European journal of human genetics : EJHG · 2023Review
- Secondary findings in a large Pakistani cohort tested with whole genome sequencing.Life science alliance · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.