Diseases investigated in the first phase

In the first phase, 1500 patients with primary diagnosis of hereditary metabolic diseases or genetic blindness that could be prevented during pregnancy or before according to legal and Shariah criteria were examined. These patients were selected from diverse populations and the risk of recurrence of the disease in the family based on genealogy analysis is preferably higher than 25%. Also, the parents or first degree relatives of the patient were worried about the recurrence of the disease and intended to have children and were exposed to the recurrence of the disease. This plan was designed in such a way that diagnostic approaches were phased and in case of final diagnosis in each phase, the planned measures of the next phase were stopped. The techniques used were basic diagnostic techniques and finally new generation sequencing (NGS) or a combination of these. The rate of obtaining a definite diagnosis was between 70 and 80%; Therefore, it was predicted that around 800 patients will finally be diagnosed. According to the existing population estimate, at least 8000 people around these people benefited from this phase of the project, and in the next stages, they reached a definite diagnosis at a much lower cost. The duration of the first phase of the project was expected to be between six months and one year. The initial screening stage was carried out at Nesl Omid Institute or designated centers with approved genetic counselors, and the final evaluation stage and tests were carried out at Nesl Omid Institute. The call for the plan was made nationwide. Review applicants were introduced to the primary screening center through ophthalmologists or pediatric metabolic specialists approved by the plan and were placed in the plan with the plan's genetic counselor.

All people who were found to be eligible received the initial discount for entering the plan provided by Nesl Omid Institute (Level 1).

If the families were applying for more than level one discount, they were introduced by the genetic counselor to Neslem Omid Medical Institute, so that after evaluating the amount of assistance, up to 85% of the tariff approved by the Ministry of Health will be paid.

Implementation steps

At this stage, the pediatric and eye metabolic referral centers and relevant specialists were informed and the generalities and criteria for entering or not entering the plan were explained. In addition, organizations and universities of medical sciences across the country, as well as the Ministry of Health and the Welfare Organization, were informed about the plan and its features. For this purpose, the referral forms or the links of the project site were notified in an appropriate way.

Initial screening and genetic counseling was done at Nesl Omid Institute or other partner centers designated by the project manager, focusing on the following:

Definite or probable diagnosis of hereditary metabolic disease or hereditary blindness
Sporadic or familial disease (presence or absence of more than one affected person in the family)
Ability or desire to have children and cooperate with the plan
Worry about the recurrence of the disease

Main conditions:

The presence of at least two affected individuals and the availability of at least one living affected individual willing to cooperate for genetic testing in both sporadic diagnosed cases and familial cases.
Willingness and ability (the couple has the ability to reproduce) of their family or first degree relatives at risk

Families who had at least one of the following conditions were included in the plan:

All familial cases (two or more people with the disease) and the presence of concern about the recurrence of the disease and willingness to cooperate in the plan
Sporadic cases with definite diagnosis of genetic disease and high risk of recurrence (25% or more) and other conditions of the above paragraph

Disease number one

Phase 1_A: 1000 ophthalmic/metabolic patients
Phase 1-B: 500 new ophthalmic/metabolic patients who did not have phase 1A mutations