Mandatory genetic screening for pregnant womenSeptember 12, 2018
India’s health ministry has formulated a draft policy proposing mandatory genetic screening of all pregnant women to bring down the prevalence of genetic disorders like thalassemia and sickle cell anaemia.
The draft policy, titled ‘For Prevention and Control of Hemoglobinopathies – Thalassemia, Sickle Cell Disease and variant Hemoglobins In India’, also includes a comprehensive plan for the treatment and management of these disorders.
“This policy encompasses the public health goals of providing the best possible evidence-based treatment for those affected, and reducing the birth of affected children through carrier screening and prenatal diagnosis,” the draft states.
According to estimates, there are almost 3.6 to 3.9 crore carriers of ß-thalassemia in India, and about 10,000 to 15,000 babies with ß-thalassemia major are born each year. For sickle cell disease, there are about 25 lakh carriers of the gene (Hemoglobin AS), and about 1.25 lakh patients of sickle cell disease.
A World Health Organization document on Hemoglobin Disorders states that most of the affected children die in early childhood and most of the survivors have chronic disease. Worldwide, over 1% of couples are at risk for haemoglobin disorders, out of whom most have at least one affected child, and most of the affected children die in early childhood.
Gynaecologists across the country have welcomed the government’s move.
“It is a very good proposal,” said Dr Nita Thakre, an Ahmedabad-based gynaecologist who specialises in high-risk pregnancies. “Screening for thalassemia and sickle cell anemia should be among the standard prenatal tests, along with HIV and HbSAg,” she said. Dr Thakre said the government should also ensure that the screening test is either available for free or is priced reasonably. Currently, the cost of the test is approximately Rs 1,200.
While, the proposal targets pregnant women, doctors feel that carriers should be identified much earlier. “The government should work on creating awareness. As of now, even educated people are not aware of these disorders and if they are carriers,” said Dr Thakre. Ideally, the prenatal tests should be done to identify the status of both partners because if 2 people with thalassemia minor get married, they could have child who has thalassemia major. “Those who are found to be carriers need to be counselled about the implications of the condition,” she added.
The draft policy also talks of putting in place advanced facilities for comprehensive care of patients with thalassemia and sickle cell anemia. This includes providing medicines, iron chelating agents, leukocyte filters and infusion pumps free of cost to poor patients. “The policy envisages creation of centres of excellence in states, which will have advanced facilities required for comprehensive care of patients with thalassemia/sickle cell disease, including a bone marrow transplant unit and a prenatal diagnostic centre,” the draft policy states.
The centres of excellence will provide technical support for thalassemia treatment in medical colleges, tertiary care hospitals, district-level health facilities and primary health centres, as well as impart training to health professionals. The policy recommends the creation of a hemoglobinopathy unit (clubbed with hemophilia for logistic purposes) in government medical colleges/tertiary care facilities as well as district-level hospitals to carry out therapy as well as preventive activities.