Zahedan University of Medical Sciences

Five years into the establishment of the Provincial Clinical Genetic Counseling Center (PCGC): A report on the implementation of Community Genetics & Genetic Counseling in Southeastern Iran

Severe congenital anomalies are a significant cause of morbidity and mortality throughout the world. The global birth prevalence of congenital disorders that are lethal or cause lifelong impairment is estimated to be 5% to 7%. The World Health Organization (WHO) recommends the implementation of genetic counseling and community genetics programs in all countries across the world, with the aim of the prevention of congenital disorders and genetic diseases at the population level. The community genetics encompasses a wide range of services including diagnosis and counseling, for individuals and families.

Studies of the birth prevalence of "severe" congenital disorders that are either lethal or cause lifelong impairment if left untreated, showed that the Eastern Mediterranean Region has highest rate of more than 65 affected children /1000 live births. The demographic and epidemiological transition that has been occurring in Iran, has resulted in an increase in the importance of congenital anomalies and genetic disorders. As a result of insufficient birth defects registration or surveillance system, existing epidemiological data on congenital and genetic disorders in Iran is limited. Every year an estimated 8 million children (i.e. 6% of all live-births worldwide) are born with congenital anomalies in Iran, that account for 3% of children under five years of age mortality. Moreover, it has been estimated that every day on average 80 infants with some form of disability are born in Iran every day, which equals to over 30,000 new disabilities per year.

Given the fact that consanguineous marriages are prevalent in Sistan and Balouchestan Province, and due to the relatively high level of other socioeconomic risk factors among people living in the province, there is a huge risk of genetic diseases in the population. In 2010, the analysis of the mortality causes of children under five years of age in Zahedan University of Medical Sciences showed that the congenital anomalies and genetic disorders  were the third leading cause of death in this age group. In order to address this public health problem, Provincial Clinical Genetic Counseling Center (PCGC) was established in February 2011, in Zahedan, southeast of Iran. A group of medical doctors were trained as genetic counselors to provide counseling and support for people and families with genetic conditions. In addition to educating families about genetic conditions, they perform clinical exams and order lab tests to diagnose the causes of birth defects and other genetic conditions.

The PCGC provides community genetic services (CGS) through primary and secondary levels of prevention.

The PCGC offers genetic counseling services for conditions , such as:
• A family history of a genetic disorders and/ or history of a genetic condition or birth defect in a previous pregnancy
• Genetic screening for diseases that are more common in the province
• Counseling for diagnosis of abnormal results from tests during pregnancy (such as a blood test, ultrasound, chorionic villus sampling (CVS), or amniocentesis)
• Screening for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition
• woman with several miscarriages or infant deaths and Infertile couples
• A child has birth defects, disabilities, or conditions found by newborn screening
• To find out if there is a genetic cause for developmental delays or health problems
• Pre-marriage or preconception genetic counseling for consanguineous marriages to help the couples get ready for a healthy pregnancy and baby

The training course on genetic counseling was initially conducted by Medical Genetics Department, Sarem Women Hospital, Tehran, I.R. of IRAN. The course was organized by Dr. Yousef Shafeghati, Prof. of Pediatrics and Clinical Genetics and his team. In order to improve the clinical and counseling skills of the Genetic Counselor, the trained Genetic Counselors, received on-service training sessions that were conducted by Dr. Shafeghati. They also participated in the official community genetics and genetic counseling course conducted by Ministry of Health and Medical Education, Genetics & Cancer Department. 

The cytogenetic laboratory of ZAUMS was established in 2011, and it provides chromosome analysis for peripheral blood samples. Genetic counselors at PCGC work closely with cytogenetic laboratory to that provides diagnostic services to the patients seeking genetic counseling services.

The PCGC has developed links and contacts with national and international diagnostic genetic laboratories and counseling centers, with the privilege of offering quality services to the clients attending the center.

The high cost of genetic services at secondary and tertiary levels does not allow many people to get access to these services despite their needs. PCGC has been able to offer limited financial assistance for genetic disorders-related costs, especially diagnostic tests through the funding provided by the "State welfare Organization" provincial branch.

Since the inception of PCGC in 2011, the center has created a great training opportunity, as medical and other health sciences students have been enjoying quality hands-on training on genetic counseling as part of their community placement activities.

The PCGC in Zahedan, southeast of Iran serves most of the clients in the region. From February 2011 to December 2017, a total of 2567 individuals have received more than 5803 counseling sessions. Most prevalent reasons for referral were prenatal counseling (34%), followed by preconception (26%), and genetic disorders diagnosis (26%).

Figure 1- Genetic counseling services provided by PCGC, 2011-2017 

Figure 2- Sources of referral of patients to PCGC, 2011-2017

Genetic Counseling Services
PCGC is a center staffed by individuals specially trained and certified in genetics by the Iranian Ministry of Health. Our geneticists are dedicated to providing you with the information and genetic counseling you need to make the best possible choices regarding the future of your family.
Our genetic counselors are trained to review family histories, explain the chance that a genetic disorder may recur in other family members, explore genetic testing options, and offer counseling and support when test results are received.
We provide affordable genetic counseling that gives patients convenient access to services tailored to meet their specific needs.

Contact us at: dr_zahrametanat@yahoo.com or +98-54-33264506