Iranian national thalassaemia screening programme
http://www.100md.com
《英国医生杂志》
1 Genetics Office, Disease Management Centre, Ministry of Health and Medical Education, Tehran, Iran, 2 University College London Centre for Health Informatics and Multiprofessional Education, London N19 5LW
Correspondence to: B Modell b.modell@pcps.ucl.ac.uk
Iran's experience shows that genetic screening can be successful in lower resource countries and also provides some lessons for high resource nations
Introduction
Iran has a five level primary healthcare network covering the entire population of 60 million, in 28 provinces (figure).3 Responsibility for health and medical education are merged throughout the system. Each medical university has a vice chancellor responsible for primary health care. There were 14 826 rural health houses at the start of the thalassaemia project. These are staffed by trained health workers (behvarz) supported by a system of continuing education. As well as premarital health education and blood tests, the responsibilities of primary care staff include an annual census of the population covered, health education, family health (prenatal and postnatal care, children, family planning, immunisation), disease control (tuberculosis, malaria, leprosy, etc), simple treatments, environmental health, and collection, recording, and storage of health information.
Organisation of the Iranian primary healthcare system
Continuing education for primary care workers is particularly important in developing countries, where the rapid evolution of health priorities requires a flexible response. In Iran, when a new programme is developed, provincial health workers attend an initial meeting at the ministry about programme goals, strategies, and activities, followed by regular updating workshops. Each level of the primary health care system then educates the next level down. Ongoing evaluation is considered equally important. Standardised surveillance data are passed up level by level; each level evaluates its own performance and that of the next level down, and the disease management centre provides feedback to the entire network.
Summary points
Iran's thalassaemia programme was implemented in 1997
Linkage to premarital testing within an effective primary care infrastructure has ensured good take up
Feedback from the community through systematic evaluation led to national acceptance of prenatal diagnosis
Design of thalassaemia prevention programme
Table 1 summarises national data for the first five years. Figures by province are on bmj.com. By the end of 2001, over 2.7 million prospective couples had been screened and 10 298 at risk couples had been identified. The rise over the first three years reflects increasing coverage, plus an annual 7.4% increase in numbers reaching marriageable age. As the programme has become established the average prevalence of carrier couples detected has increased from 3.0/1000 to 4.5/1000. All prospective couples reported at risk have attended genetic counselling, usually with relatives. After counselling, about half proceed to marriage. Many of the rest decide to separate, although the proportion remaining undecided when the data were collected each year (usually 6-12 months after counselling) has increased steadily.
Table 1 Outcomes in first five years of Iranian thalassaemia prevention programme
Preliminary data from the developing national thalassaemia register (table 2) suggests that the affected birth rate had fallen to 30% of expectation by the year 2000. However, it will take time to validate the figures and evaluate the many factors involved. In 1998 the annual number of new cases was already far below expectation as a result of long standing systematic counselling of couples with affected children; if informed couples refrain from having further children, in a population with a large average final family size this can reduce affected births by up to 50%.9 Figures for affected births in the years 2001 and 2002 will rise in the future because many patients present between 1 and 2 years of age.
Table 2 Number of new patients with thalassaemia major registered at Iranian treatment centres during 1998-2002
Effect of evaluation on development of programme
The government health budget covers planning, education, counselling, and surveillance. Couples pay for their own screening tests, which cost about $5 (￡2.70, 3.90). The (governmental) health insurance companies cover DNA tests and prenatal diagnosis. Over 90% of the population are insured, and help is available for couples who are not uninsured.
Problems and further development
The programme is economically viable because it works through the established primary healthcare and educational systems, focuses existing (though scattered) genetic expertise on a common objective, and added thalassaemia screening to existing pre-marital blood tests. Couples willingly pay for screening because they want a healthy family and are prepared for expenses associated with marriage. The (governmental) insurance companies pay for prenatal diagnosis because it helps to limit the escalating cost of patient care.1 9 18 This enables the laboratory network to expand to meet demand, which could exceed 3000 requests for prenatal diagnosis a year. Mass referrals provide laboratories and universities with resources and scientific data, so promoting further development of genetic knowledge and technology in the country, and expanding capacity for other genetic services.
When planning a programme, the initial tendency is to focus on technical aspects. However the most difficult, expensive, and time consuming component is establishing sustainable education for health workers and the community. Ongoing evaluation is equally important because it provides objective feedback that permits the programme to adapt to the needs of the community. The role of evaluation in the rapid evolution of social attitudes to abortion for serious fetal abnormality in Iran is highly relevant for other Islamic countries and for Muslim minorities in high resource countries.
Prenatal diagnosis has developed in response to public demand in Iran
Credit: SHEHZAD NOORANI/STILL PICTURES
Primary care based genetic screening must be inclusive rather than focused on a single disorder. The recognition that thalassaemia screening is simply a first step in the application of genetic knowledge in primary care has been crucial for its acceptance.
Advantages of genetic screening in primary care
Alwan A, Modell B. Recommendations for introducing genetics services into developing countries. Nature Rev Genetics 2003;4: 61-8.
Farhud D, Sadighi H. Investigation of prevalence of thalassaemia in Iran. Iran J Public Health 1997;26: 1-2.
Shadpour K. The PHC experience in Iran. Teheran: Unicef, 1994.
Cao A, Rosatelli. Screening and prenatal diagnosis of the haemoglobinopathies. Balliere's Clin Haematol 1993;6: 263-86.
Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet 1981;i: 369-70.
Loukopoulos D. Current status of thalassaemia and the sickle cell syndromes in Greece. Semin Hematol 1996;33: 76-86.
Maggio A, Caronia F, Orlandi F. Prenatal diagnosis of haemoglobinopathies in Sicily. Lancet 1992;339: 1361-2.
Modell B, Ward RHT, Fairweather DVI. Effect of introducing antenatal diagnosis on the reproductive behaviour of families at risk for thalassaemia major. BMJ 1980;ii: 737.
Alwan AA, Modell B. Community control of genetic and congenital disorders. Cairo: World Health Organisation Regional Office for the Eastern Mediterranean, 1997. (EMRO Technical Publications Series 24.)
Report of a WHO meeting on ethical issues in medical genetics. Proposed international guidelines on ethical issues in medical genetics and genetics services. http://www.who.int/genomics/publications/en/ethicalguidelines1998.pdf (accessed 1 Nov 2004).
General Haematology Task Force of the British Committee for Standards in Haematology. The laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998;101; 783-92.
Modell B, Darlison M, Khan M, Harris R. Role of genetic diagnosis registers in ongoing consultation with the community. Comm Gen 2000;3: 144-7.
Modell B, Khan M, Darlison M, King A, Layton M, Old J, et al. Use of a national diagnosis register for surveillance of an inherited disorder: the example of beta thalassaemia in the United Kingdom. Bull World Health Organ 2001;79: 1006-13.
Modell B, Harris R, Lane B, Khan M, Darlison M, Petrou M, et al. Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential enquiry. BMJ 2000;320: 325-90.
Gohari LH, Petrou M, Felekis X, Christopoulos G, Kleanthous M. Identification of alpha-thalassemia mutations in Iranian individuals with abnormal hematological indices and normal Hb A2. Hemoglobin 2003;27: 129-32.
Akbari M, Izadi P. The incidence of beta thalassaemia gene mutations and prenatal diagnosis in Iran. 7th meeting of the American Society for Human Genetics, Baltimore, USA, 1997. Am J Hum Genet 1997;61(suppl):abstract No 829.
Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, et al. The beta-thalassemia mutation spectrum in the Iranian population. Hemoglobin. 2001;25: 285-96.
Angastiniotis MA, Kyriakidou S, Hadjiminas M. How thalassaemia was controlled in Cyprus. World Health Forum 1986;7; 291-7.
Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic haemoglobin disorders in Pakistan. N Engl J Med 2001;347: 1162-8.(Ashraf Samavat, head1, Be)
Correspondence to: B Modell b.modell@pcps.ucl.ac.uk
Iran's experience shows that genetic screening can be successful in lower resource countries and also provides some lessons for high resource nations
Introduction
Iran has a five level primary healthcare network covering the entire population of 60 million, in 28 provinces (figure).3 Responsibility for health and medical education are merged throughout the system. Each medical university has a vice chancellor responsible for primary health care. There were 14 826 rural health houses at the start of the thalassaemia project. These are staffed by trained health workers (behvarz) supported by a system of continuing education. As well as premarital health education and blood tests, the responsibilities of primary care staff include an annual census of the population covered, health education, family health (prenatal and postnatal care, children, family planning, immunisation), disease control (tuberculosis, malaria, leprosy, etc), simple treatments, environmental health, and collection, recording, and storage of health information.
Organisation of the Iranian primary healthcare system
Continuing education for primary care workers is particularly important in developing countries, where the rapid evolution of health priorities requires a flexible response. In Iran, when a new programme is developed, provincial health workers attend an initial meeting at the ministry about programme goals, strategies, and activities, followed by regular updating workshops. Each level of the primary health care system then educates the next level down. Ongoing evaluation is considered equally important. Standardised surveillance data are passed up level by level; each level evaluates its own performance and that of the next level down, and the disease management centre provides feedback to the entire network.
Summary points
Iran's thalassaemia programme was implemented in 1997
Linkage to premarital testing within an effective primary care infrastructure has ensured good take up
Feedback from the community through systematic evaluation led to national acceptance of prenatal diagnosis
Design of thalassaemia prevention programme
Table 1 summarises national data for the first five years. Figures by province are on bmj.com. By the end of 2001, over 2.7 million prospective couples had been screened and 10 298 at risk couples had been identified. The rise over the first three years reflects increasing coverage, plus an annual 7.4% increase in numbers reaching marriageable age. As the programme has become established the average prevalence of carrier couples detected has increased from 3.0/1000 to 4.5/1000. All prospective couples reported at risk have attended genetic counselling, usually with relatives. After counselling, about half proceed to marriage. Many of the rest decide to separate, although the proportion remaining undecided when the data were collected each year (usually 6-12 months after counselling) has increased steadily.
Table 1 Outcomes in first five years of Iranian thalassaemia prevention programme
Preliminary data from the developing national thalassaemia register (table 2) suggests that the affected birth rate had fallen to 30% of expectation by the year 2000. However, it will take time to validate the figures and evaluate the many factors involved. In 1998 the annual number of new cases was already far below expectation as a result of long standing systematic counselling of couples with affected children; if informed couples refrain from having further children, in a population with a large average final family size this can reduce affected births by up to 50%.9 Figures for affected births in the years 2001 and 2002 will rise in the future because many patients present between 1 and 2 years of age.
Table 2 Number of new patients with thalassaemia major registered at Iranian treatment centres during 1998-2002
Effect of evaluation on development of programme
The government health budget covers planning, education, counselling, and surveillance. Couples pay for their own screening tests, which cost about $5 (￡2.70, 3.90). The (governmental) health insurance companies cover DNA tests and prenatal diagnosis. Over 90% of the population are insured, and help is available for couples who are not uninsured.
Problems and further development
The programme is economically viable because it works through the established primary healthcare and educational systems, focuses existing (though scattered) genetic expertise on a common objective, and added thalassaemia screening to existing pre-marital blood tests. Couples willingly pay for screening because they want a healthy family and are prepared for expenses associated with marriage. The (governmental) insurance companies pay for prenatal diagnosis because it helps to limit the escalating cost of patient care.1 9 18 This enables the laboratory network to expand to meet demand, which could exceed 3000 requests for prenatal diagnosis a year. Mass referrals provide laboratories and universities with resources and scientific data, so promoting further development of genetic knowledge and technology in the country, and expanding capacity for other genetic services.
When planning a programme, the initial tendency is to focus on technical aspects. However the most difficult, expensive, and time consuming component is establishing sustainable education for health workers and the community. Ongoing evaluation is equally important because it provides objective feedback that permits the programme to adapt to the needs of the community. The role of evaluation in the rapid evolution of social attitudes to abortion for serious fetal abnormality in Iran is highly relevant for other Islamic countries and for Muslim minorities in high resource countries.
Prenatal diagnosis has developed in response to public demand in Iran
Credit: SHEHZAD NOORANI/STILL PICTURES
Primary care based genetic screening must be inclusive rather than focused on a single disorder. The recognition that thalassaemia screening is simply a first step in the application of genetic knowledge in primary care has been crucial for its acceptance.
Advantages of genetic screening in primary care
Alwan A, Modell B. Recommendations for introducing genetics services into developing countries. Nature Rev Genetics 2003;4: 61-8.
Farhud D, Sadighi H. Investigation of prevalence of thalassaemia in Iran. Iran J Public Health 1997;26: 1-2.
Shadpour K. The PHC experience in Iran. Teheran: Unicef, 1994.
Cao A, Rosatelli. Screening and prenatal diagnosis of the haemoglobinopathies. Balliere's Clin Haematol 1993;6: 263-86.
Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet 1981;i: 369-70.
Loukopoulos D. Current status of thalassaemia and the sickle cell syndromes in Greece. Semin Hematol 1996;33: 76-86.
Maggio A, Caronia F, Orlandi F. Prenatal diagnosis of haemoglobinopathies in Sicily. Lancet 1992;339: 1361-2.
Modell B, Ward RHT, Fairweather DVI. Effect of introducing antenatal diagnosis on the reproductive behaviour of families at risk for thalassaemia major. BMJ 1980;ii: 737.
Alwan AA, Modell B. Community control of genetic and congenital disorders. Cairo: World Health Organisation Regional Office for the Eastern Mediterranean, 1997. (EMRO Technical Publications Series 24.)
Report of a WHO meeting on ethical issues in medical genetics. Proposed international guidelines on ethical issues in medical genetics and genetics services. http://www.who.int/genomics/publications/en/ethicalguidelines1998.pdf (accessed 1 Nov 2004).
General Haematology Task Force of the British Committee for Standards in Haematology. The laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998;101; 783-92.
Modell B, Darlison M, Khan M, Harris R. Role of genetic diagnosis registers in ongoing consultation with the community. Comm Gen 2000;3: 144-7.
Modell B, Khan M, Darlison M, King A, Layton M, Old J, et al. Use of a national diagnosis register for surveillance of an inherited disorder: the example of beta thalassaemia in the United Kingdom. Bull World Health Organ 2001;79: 1006-13.
Modell B, Harris R, Lane B, Khan M, Darlison M, Petrou M, et al. Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential enquiry. BMJ 2000;320: 325-90.
Gohari LH, Petrou M, Felekis X, Christopoulos G, Kleanthous M. Identification of alpha-thalassemia mutations in Iranian individuals with abnormal hematological indices and normal Hb A2. Hemoglobin 2003;27: 129-32.
Akbari M, Izadi P. The incidence of beta thalassaemia gene mutations and prenatal diagnosis in Iran. 7th meeting of the American Society for Human Genetics, Baltimore, USA, 1997. Am J Hum Genet 1997;61(suppl):abstract No 829.
Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, et al. The beta-thalassemia mutation spectrum in the Iranian population. Hemoglobin. 2001;25: 285-96.
Angastiniotis MA, Kyriakidou S, Hadjiminas M. How thalassaemia was controlled in Cyprus. World Health Forum 1986;7; 291-7.
Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic haemoglobin disorders in Pakistan. N Engl J Med 2001;347: 1162-8.(Ashraf Samavat, head1, Be)