Findings were reported based on four categories of policy triangle framework (context, content, process, and actors). These categories are explained as follows (Fig. 2):
Content included three factors: political, economic, and social and cultural factors.
According to Article 89 of Iran's Fourth Development Plan (1963-1972), the MOHME was required to design a system of minimum standardization of health services based on the levels of services in order to ensure fair access to health services. In this regard, the NaPS program with specific level was launched at the lowest levels of the network, was fairly implemented in cities and villages. But the long-term plan for the future has not been defined. Because of the political changes in government, the minister, his deputies and other senior managers of the MOHME change relatively fast.
"The system should not change with the change of managers. It must be stable. After the management changes, specialized staff also change. Then the problem emerges "(P.19).
The economic sanctions restricted the currency exit from country and the imports of drugs and Phe-free milk and even publication of scientific articles related to the PKU program in foreign journals. Because most families could not afford the diagnostic and therapeutic costs of the disease, the cost of screening and Phe-free milk was subsidized by government.
"Iran sanctions face us with limited drug access and low access to technology" (P.17).
“Sanctions have had a major impact on the import of Phe-free milk for patients"(P.4).
"We had trouble publishing the article on this project, so one of the journals responding to our article replied:” we cannot publish your article because you are under sanctions" (P.24).
Social and cultural factors
People welcomed the diagnosis program as it dealt with concerns about the likelihood of mental retardation and the possibility of preventing the disease, but some families do not regularly follow up on treatment regimens. Parenting skills of patients’ parents and self-care of patients are poor. Patients and their families have little knowledge of the disease, and they are not provided with adequate education. The tendency for family marriages in Iran leads to an increased risk of the disease. The social stigma associated with disease has made it difficult to advance the program.
"With age, withdrawal from treatment increases and disease control becomes more difficult. Many patients develop seizures because they have not followed the diet and phenylalanine levels in their blood have risen."(P.28)
"Disease-related social stigma makes it difficult to care and follow up. The parents of one of the patients moved and they would not be followed up as they do not provide their new address . A person who has a child with PKU doesn't even tell his sister and brother that his child has PKU" (P.36)
The purpose of NaPS program was to reduce physical disability, mental retardation and family damage. PKU screening is not just a test, but it is a system designed to identify, treat, and fully care for patients. Therefore, the program was organized at county, provincial, and national levels.
The genetics department of the MOHME and medical sciences universities were determined as responsible for implementing the program in national and provincial levels. In health part, health houses, urban and rural health centers, district health centers and disease prevention and control unit in the deputy of health of the medical sciences universities were considered to provide health services. In treatment part, blood sampling centers, provincial health reference laboratory and selected PKU hospitals were considered to provide diagnostic and therapeutic services.
Chief among the duties of genetics department are: drafting the national program guidelines, developing the monitoring checklists, forming the national technical committees, notifying all universities in the country of the program, collecting the annual reports from medical sciences universities, evaluating implemented programs, following up the necessary facilities, engaging relevant organizations and departments and making coordination with them, following up laws and approvals, developing the educational packages, anticipating funding for program implementation and reporting to high level officials.
Chief among the duties of medical sciences universities are: planning and discussing the program at the genetics committee, organizing meetings of the PKU academic committee, monitoring implementation of approvals, monitoring performance, and periodically reporting to health and treatment deputies.
The duties of the provincial health reference laboratory are: receiving and registering all screening samples, performing all screening tests, reporting positive screening tests (initial suspected) and requiring re-testing (technical and medical) to the “disease prevention and control unit” in the province. The number of patients in each province is relatively limited, so such a large system cannot be implemented in all cities. In this way, at least one children's specialized hospital as PKU selected hospital in each province provides all required services to patients. In PKU selected hospitals, all required services are provided: specialist physician periodic visit, laboratory services for treatment control, expert nutrition services, pharmaceutical services (delivery of Phe-free milk and other nutrition items to patients), clinical psychology and social care services, and parents’ education. The duties of the health centers and health houses include immediate referral of newly-diagnosed patients to the selected hospitals, follow-up in absence of treatment, collection, registration and transmission of information, participation in educational programs, and educating pregnant mothers.
In order to implement the program, guidelines of laboratory, care, clinical, nutritionist, genetic diagnosis and prevention, non-classic sampling guidelines and supplementary regulations of clinical psychologists were developed.
During 1997-2010, the outbreak ratio of PKU was calculated 1:8000 in three big provinces of Tehran, Fars, and Mazandaran in Iran . Following the implementation of the Iranian NaPS in 2013, the incidence rate of this disease was decreased to 1:4166 . If the disease is not diagnosed in a timely manner and the treatment process is not initiated, physical, mental and intellectual disabilities will occur for the patient and these problems are irreversible. The medical costs and problems of keeping a disabled child in the family are also other problems (First Stream).
"There was a problem. Every year a number of patients were added to PKU patients. They suffered from severe physical and mental disabilities, reduced IQs and complications such as seizures and increased financial burden for the families and health system. On the other hand, the disease could be diagnosed early and be cared for" (P.1).
The above-mentioned problems have led health policymakers to explore ways to solve these problems. Therefore, with the successful implementation of the hypothyroid screening program and the use of infrastructure of this program for phenylketonuria screening, as well as executive and scientific efforts, PKU screening program was developed (Second stream).
"We had already experienced congenital hypothyroidism screening. Sampling time, sampling method and sending to the lab are the same as phenylketonuria screening" (P.14).
Although, there were some problem and policy streams, factors such as lack of prioritization of the program by the MOHME top executives, the limited capacity of the health system, the inability to increase health personnel in accordance with national administrative regulations and laboratory equipment problems, caused the policy window to remain closed and program implementation stopped.
Despite the opposition of the Network Development Office with regard to integrating the program, insufficient support of insurance organizations and deputy of treatment of MOHME, the NaPS program was implemented due to the continuous persistence of patients’ families and members of the Iranian Society of Pediatrics to initiate screening and therapeutic interventions and formulated content, and talented and interested executives who convinced the policymakers (Third stream)
"We, patients' families, corresponded with the Vice-Chancellor of Health Minister. We met him. We talked to him about our problems. He was very upset about our situation. He instructed the relevant organizations to serve all PKU patients” (P.22).
One of the reasons for the success of this program was the presence of a capable, interested, and persistent responsible person" (P.16).
Problems associated with the disease (first stage), successful implementation of the hypothyroid screening program and ability to run the program based on the created infrastructure at national level (second stage), exerting pressure on the patients’ families, members of the Scientific Committee on Children and following up by executives (third stage) concurrently led to agreement of health policy makers with the program, and policy window was opened.
Formulation of PKU screening policies
Executives sought to involve all stakeholders prior to launching the program. The scientific proposal for the implementation of the screening program was formulated by two faculty members. A services package to be provided to patients with hereditary metabolic diseases was developed by faculty members working with various medical sciences universities in Iran. The Genetics Department used the Thalassemia Genetics Program as the infrastructure and model of the PKU program and utilized thalassemia genetic consultants. The standards were extracted from the review of scientific references, valid guidelines and evidences from leading countries and then localized in the national committee. In order to formulate policies, numerous meetings were held with the participation of academics and stakeholders to engage them to advance the program. WHO observers attended some of these meetings. The program was presented in the Provincial Health and Food Security Council by health administrators. In order to ensure the feasibility of implementing the program, diagnostic and therapeutic facilities were checked out by different groups of genetic experts, physicians, and health reference laboratory experts.
Implementation of PKU screening policies
The approach for implementing PKU screening policies was a top-down approach. The pilot program was conducted in 2007 at Universities of Medical Sciences in Shiraz, Mazandaran and 3 Universities of Medical Sciences in Tehran, i.e. Shahid Beheshti, Tehran and Iran University of Medical Sciences . The screening program was nationwide following the implementation of the pilot one in early 2013. Organizing the laboratory tests, transferring the specimens and confirming the tests were done by the Health Reference Laboratory. In the capital of each province, a children's specialized hospital was organized as PKU's selected hospital. A treatment team consisting of a pediatrician, a nutritionist, a psychologist, a social worker, and a secretary was formed in these hospitals. Patients’ dietary milk was distributed by the selected hospital pharmacy. At the beginning of the program, a liaison was selected from among the patients’ parents, but after a while, this role was assigned to the hospital staff. The follow-up of the newborn baby was monitored by health center experts. Detailed statistics of treatment and absence of treatment from the selected hospital were provided to the MOHME. Malignant and non-classic diagnostic tests were conducted at the Pasteur Institute of Iran.
Evaluation of PKU screening policies
Provincial experts' performance was evaluated by the Genetic Department of MOHME. In this way, periodic monitoring and completing checklists and providing statistics and documentation was done.
Challenges of Implementing a PKU Screening Program
A national screening decision was made in 2011, but was delayed due to laboratory equipment problems in medical sciences universities in 2012. Monitoring and follow-up of PKU patients have lower priority than other programs in some selected hospitals. Selected hospitals suffered from a shortage of milk powder. It was not appropriate to record hospital and non-hospital information. Qualitative evaluation of selected hospitals was not performed well due to inadequate co-operation of some hospital administrators and the lack of a supervisory system for providing PKU services in hospitals.
"From the year 2007 to 2011, when we wanted to start a national screening program, during these four years, the most important problems were laboratory diagnostic problems "(P.3).
One of the problems is that hospital information is not recorded very well" (P.2).
Internal stakeholders involved in the NaPS program include:
- Genetics department,
- Health Network Development Center,
- Office of Population & Family Health,
- Health Reference Laboratory,
- Children Health Department,
- Deputies of Health Universities of Medical Sciences,
- Deputies of treatment Services,
- Selected Hospitals of PKU,
- Pasteur Institute of Iran,
- Food and Drug Administration,
- and related research centers
External stakeholders involved were:
- the Welfare Organization,
- Health Insurance Organization,
- PKU Patient Support Association,
- the Post office and
- the Registration Office.