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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References
Khoury MJ, Burke W, Thomson EJ. Genetics and public health in the 21st century: using genetic information to improve health and prevent disease. New York: Oxford Studies in Historical T; 2000.
Sirisena N, Sumathipala D, Wettasinghe K, Dissanayake V. The provision of medical and health genetics and genomics in the developing world. Medical and Health Genomics: Amsterdam: Elsevier; 2015. p. 285–94.
World Health Organization. Advisory Committee on Health Research. Genomics and world health: report of the Advisory Committee on Health Research. World Health Organization. http://www.who.int/iris/handle/10665/42453. 2002.
Thong M, See-Toh Y, Hassan J, Ali J. Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities. Genet Med. 2018;20:1114–21.
Pang T, Oestergaard M. Creating policy frameworks for public health genomics to benefit developing countries. Pers Med. 2014;11:487–96.
Khoury MJ, Bowen MS, Clyne M, Dotson WD, Gwinn ML, Green RF, et al. From public health genomics to precision public health: a 20-year journey. Genet Med. 2017;20:574–82.
House of Commons Science and Technology Committee U. Genomics and genome editing in the National Health Service. https://publications.parliament.uk/pa/cm201719/cmselect/cmsctech/349/349.pdf. UK. 2018.
Council of Australian Governments (COAG) Health Council. National Health Genomics Policy Framework 2018-2021. Report No.: 11905. Australia. 2017.
Australia B. Genetics in family medicine: the Australian handbook for general practitioners. Canberra: Commonwealth of Australia; 2007.
Metcalfe SA, Bittles AH, O’Leary P, Emery J. Australia: public health genomics. Public Health Genom. 2009;12:121–8.
Health CoAarbtDo. Newborn Bloodspot Screening National Policy Framework. Australia department of Health, Health; Canberra ACT, Australia. 2018.
World Health Organization(WHO). Grand Challenges in Genomics for Public Health in Developing Countries: Top 10 policy and research priorities to harness genomics for the greatest public health problems. https://www.who.int/rpc/grand_challenges.pdf. 2011.
Mehboob B, Safdar NF. Zaheer S. Socio-economic, environmental and demographic determinants of rise in obesity among Pakistani women: a systematic review. J Pak Med Assoc. 2016;66:1165–72.
Saleheen D, Zaidi M, Rasheed A, Ahmad U, Hakeem A, Murtaza M, et al. The Pakistan risk of myocardial infarction study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia. Eur J Epidemiol. 2009;24:329–38.
Meo SA, Zia I, Bukhari IA, Arain SA. Type 2 diabetes mellitus in Pakistan: current prevalence and future forecast. Pak Med Assoc. 2016;66:1637–42.
Lixian Zhong MZOaRT. Mapping of WHO collaborating centres related to public health genomics. Geneva: The World Health Organization Cooperation DoRP; 2010.
Afroze B, Humayun KN, Qadir M. Newborn screening in Pakistan—lessons from a hospital-based congenital hypothyroidism screening programme. Ann Acad Med Singap. 2008;37(12 Suppl):114–3.
Yaqoob M, Gustavson KH, Jalil F, Karlberg J, Iselius L. Early child health in Lahore, Pakistan: II. Inbreeding. Acta Paediatr. 1993;82(s391):17–26.
Ajaz M, Ali N, Randhawa G. UK Pakistani views on the adverse health risks associated with consanguineous marriages. J Commun Genet. 2015;6:331–42.
Joint WHO. Management of birth defects and haemoglobin disorders: report of a joint WHO-March of Dimes meeting. World Health Organization. Geneva, Switzerland, 17–19 May. 2006.
Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics . 2006;117(Supplement 3):S296–S307.
Foundation Z. The ZB foundation. 2013. http://www.thezbfoundation.com/. Accessed 27 Mar 2018.
Khan MH, Noman N, Hashmi G, Gul S, Ali A, Babar KS. Essential newborn care practice in hospital versus home deliveries. Gomal J Med Sci. 2004;4:1–9.
Ansari SH, Shamsi TS, Ashraf M, Farzana T, Bohray M, Perveen K, et al. Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications. Indian J Hum Genet. 2012;18:193.
Ahmed P, Shamsi TS, Adil SN, Satti TM, Chaudhry Q, Mahmood S, et al. Hematopoietic stem cell transplantation in Pakistan-country report. Hematol/Oncol stem cell Ther. 2017;10:303.
Punjab Go. Punjab Thalassemia Prevention Programme. 2015. https://ptpp.punjab.gov.pk/. Accessed 5 Sep 2018.
Jafri H, Hewison J, Sheridan E, Ahmed S. Acceptability of prenatal testing and termination of pregnancy in Pakistan. J community Genet. 2015;6:29–37.
Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic hemoglobin disorders in Pakistan. New Engl J Med. 2002;347:1162–8.
Ghani F, Maniac S, Khilji Z, Azim M, Khurshid M. Diagnosis of genetic defects by chromosomal analysis. J Pak Med Assoc. 1995;45:295.
Paksitan Go. The College of Physicians and Surgeons. 1962. https://www.cpsp.edu.pk/about-cpsp. Accessed 15 Jun 2018.
Ashfaq M, Amanullah F, Ashfaq A, Ormond KE. The views of Pakistani doctors regarding genetic counseling services–is there a future? J Genet Couns. 2013;22:721–32.
Ahmed S, Jafri H, Rashid Y, Mason G, Ehsan Y, Ahmed M. Attitudes towards non‐invasive prenatal diagnosis among obstetricians in Pakistan, a developing, Islamic country. Prenat Diagn. 2017;37:289–95.
De Vries J, Bull SJ, Doumbo O, Ibrahim M, Mercereau-Puijalon O, Kwiatkowski D, et al. Ethical issues in human genomics research in developing countries. BMC Med ethics. 2011;12:5.
WHO. Health systems profile- Pakistan. Pakistan: regional health systems observatory—EMRO. Eastern Mediterranean Region: World Health Organization; 2007.
Warsy AS, Al-Jaser MH, Albdass A, Al-Daihan S, Alanazi M. Is consanguinity prevalence decreasing in Saudis?: A study in two generations. Afr health Sci. 2014;14:314–21.
Shanti H, Chouchane L, Badii R, Gallouzi IE, Gasparini P. Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar. J Transl Med. 2015;13:358.
Alkuraya FS, Kilani RA. Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa). Prenat Diagn. 2001;21:448–51.
Alsulaiman A, Al‐Odaib A, Rijjal A, Hewison J. Preimplantation genetic diagnosis in Saudi Arabia: parents’ experience and attitudes. Prenat Diagn. 2010;30:753–7.
Abotalib Z. Preimplantation genetic diagnosis in Saudi Arabia. Bioinformation. 2013;9:388.
Hessini L. Abortion and Islam: policies and practice in the Middle East and North Africa. Reprod health matters. 2007;15:75–84.
Al-Matary A, Ali J. Controversies and considerations regarding the termination of pregnancy for foetal anomalies in Islam. BMC Med Ethics. 2014;15:10.
Memish ZA, Saeedi MY. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia. Ann Saudi Med. 2011;31:229.
Dhabi HA-A. Premarital screening and counseling. In: DHABI DoHA, editor. (Abu Dhabi Govt, UAE), 2005.
Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, et al. Expanded newborn screening program in Saudi Arabia: incidence of screened disorders. J Paediatr child health. 2017;53:585–91.
QATAR biobank. QATAR. 2013. https://www.qatarbiobank.org.qa/. Accessed 4 Feb 2019
Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017;544:235.
Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, et al. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science. 2008;322:1702–5.
Jørgensen AB, Frikke-Schmidt R, Nordestgaard BG, Tybjærg-Hansen A. Loss-of-function mutations in APOC3 and risk of ischemic vascular disease. New Engl J Med. 2014;371:32–41.
The T, of the Exome HWG, Project S. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. New Engl J Med. 2014;371:22.
Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2016;48:556.
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49:993.
Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, et al. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. J Med Genet. 2014;51:444–8.
Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, et al. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. PLoS ONE. 2015;10:e0119806.
Ahmed W, Whittall R, Riaz M, Ajmal M, Sadeque A, Ayub H, et al. The genetic spectrum of familial hypercholesterolemia in Pakistan. Clin Chim Acta. 2013;421:219–25.
Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla D, et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry. 2017;22:1604.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation. 2018;39:593–620.
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Alfoldi J, et al. Evaluating potential drug targets through human loss-of-function genetic variation. bioRxiv. 2019:530881. https://doi.org/10.1101/530881.
Finer S, Martin H, Hunt KA, MacLaughlin B, Ashcroft R, Khan A, et al. Cohort profile: East London Genes & Health (ELGH), a community based population genomics and health study in people of British-Bangladeshi and-Pakistani heritage. bioRxiv. 2018:426163. https://doi.org/10.1101/426163.
George J, Mathur R, Shah AD, Pujades-Rodriguez M, Denaxas S, Smeeth L, et al. Ethnicity and the first diagnosis of a wide range of cardiovascular diseases: Associations in a linked electronic health record cohort of 1 million patients. PLoS ONE. 2017;12:e0178945.
Mathur R, Noble D, Smith D, Greenhalgh T, Robson J. Quantifying the risk of type 2 diabetes in East London using the QDScore: a cross-sectional analysis. Br J Gen Pract. 2012;62:e663–e70.
Meic G. Public Health Profile of north east London for NE London sustainability and transformation plan. 2016. http://archive.eastlondonhcp.nhs.uk/wp-content/uploads/2017/06/NEL-STP-JSNA-2016.pdf. Accessed 5 Nov 2018.
Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nat News. 2016;538:161.
Nimmesgern E, Benediktsson I, Norstedt I. Personalized medicine in Europe. Clin Transl Sci. 2017;10:61–3.
Health Department GoP. National health vision Pakistan 2016–2025. Pakistan: Health Department; 2016.
Mulder NJ, Adebiyi E, Alami R, Benkahla A, Brandful J, Doumbia S, et al. H3ABioNet, a sustainable pan-African bioinformatics network for human heredity and health in Africa. Genome Res. 2016;26:271–7.
Adoga MP, Fatumo SA, Agwale SM. H3Africa: a tipping point for a revolution in bioinformatics, genomics and health research in Africa. Source Code Biol Med. 2014;9:10.
Group HAW. Harnessing Genomic Technologies Toward Improving Health in Africa: Opportunities and Challenges. https://h3africa.org/wp-content/uploads/2018/05/h3africa_whitepaper.pdf. 2011.
Editorial Nature. Pakistan’s prosperity needs independent experts. https://www.nature.com/articles/d41586-018-06659-9. 11 Sep. 2018.
Ballantyne, Angela, Goold, Imogen, Pearn, Amy & WHO Human Genetics Programme. Medical genetic services in developing countries : the ethical, legal and social implications of genetic testing and screening. World Health Organization. http://www.who.int/iris/handle/10665/43288. 2006.
Ahmad FKaW. State of Health Sector in Pakistan. Pakistan: Monetary Policy Department, at SBP; 2018.
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Riaz, M., Tiller, J., Ajmal, M. et al. Implementation of public health genomics in Pakistan. Eur J Hum Genet 27, 1485–1492 (2019). https://doi.org/10.1038/s41431-019-0428-z
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DOI: https://doi.org/10.1038/s41431-019-0428-z
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