Researchers at the CSIR-Centre for Cellular and Molecular Biology (CSIR-CCMB) have created a rapid, affordable and precise molecular test for sickle cell anemia detection. This test employs indigenous developed reagents and is aimed at improving the genetic disease screening, which is prevalent among the tribal and mainland population of the country.
A chief scientist and director of the CSIR-SCA Mission, Giriraj Ratan Chandak showed that their polymerase chain reaction (PCR) based test has been endorsed by ICMR with “100% sensitivity and 100% specificity.”
It can screen as many individuals as possible with one drop of blood and tell if one is normal, carrier, or sick in one attempt at about ₹100 or below. In addition, this test is less than half of the regular confirmatory tests and does not require collection, transportation of blood by cannula, blood storage, and more of these tests.
Unlike the present test systems such as HPLC or Rapid Cart tests, this molecular test also facilitates early prenatal diagnosis and genetic guidance. Gene sequencing of approximately 16000 samples has passed validation even when screened with HPLC method on pregnant women and newborns from Chhattisgarh, Maharashtra and Rajasthan regions thereby recording accuracy of over 99.6%, noted Chandak.
“We have secured the patent for the test so as to ensure that it is made available to the larger populations of 17 States that are likely afflicted by SCA. We are also assisting medical colleges and hospitals including AIIMS in Chhattisgarh, Madhya Pradesh for the establishment of such PCR centres by providing equipment and training Rajeev Kumar,” he stated during an exclusive interaction.
This mission was started by Mr. Chandak and his team under the Council of Scientific and Industrial Research (CSIR) in 2018 to screen the degree of SCA that is largely exist among tribal people.
This particular disease is a one that stems from a gene defect which modifies red blood cells (RBCs) into a sickle shape that increases elimination of these RBCs resulting to chronic anaemia and its accompanying fables such as pains. The team initiated population screening for tribal and non-tribal populations in Chhattisgarh later branching the screening to developments in Maharashtra and Madhya Pradesh two years later and Rajasthan with pupulations screened for SCA being around 30 lakh over time.
“Children with this SCA disease have very short stature even though their chronological ages are higher than their heights. We have discovered the disease to cut across all levels of the society as it is spread through a particular genetic defect and intermarriages. Around 10% of people are carriers or are diseased ‘9%’ – active carriers, ‘1%’ – patients, as per our experience and published literature,” he explained.
The awareness, screening, diagnosis, treatment, and providing adjunctive support were the main challenges that the project aimed to address. Once random population screenings were carried out after treatment, the team ensured that medication was given using optimally lower dose of heady such as ‘Hydroxyurea’ 200 mg tablets or also as syrup, which had been recommended for use in SCA by Drug Controller General of India (DCGI).
“The medicine was only through a 500 mg capsule and thus making it difficult to administer to children properly leading to noncompliance and adverse outcomes,” he said.
The SCA Mission now aims to advocate the rapid uptake of Whole Blood/Dried Blood Spot (WB/DBS) PCR based molecular testing by setting up new PCR centres, enhancing the existing ones set up during the COVID-19 syndrome and training man-power.
His group has suggested the plan where village people would draw blood on a dried blood card and ferry it to a primary health centre where trained personnel will conduct up to 300 tests per day. ‘Locking in correct therapies for people early enough is exactly what prevention and treatment regimes hinge on. Most common practice of solubility testing has too many false negatives, is unnecessarily labor intensive, and is expensive as well. Even the new rapid card tests have also not fared well,’ said Mr. Chandak.
The SCA Mission has entered into an agreement with Chhattisgarh Institute of Medical Sciences (CIMS, Bilaspur) and AIIMS-Nagpur for developing interoperable WB/DBS-PCR based molecular testing and screening facilities. Jharkhand, Rajasthan and Madhya Pradesh are also in talks. In Telangana, it is expected that consultation will be provided with the Tata Trust whereas Andhra Pradesh is not covered at the moment.
It is unusual that the CSIR-SCA Mission has not been incorporated into the National Mission for Elimination of SCA, which was launched in July 2023 and aims to screen 70 million people aged 0-40 years. In this initiative, this estimation takes into account, approximately 6.3 million will be carriers and 7 lakh will be patients (9%) respectively.
We do not seek to fragment health care delivery. All of the submitted data has been shared and several ministries are being consulted on the relevance and the impact the research and field work will have in addressing the transitional challenges of molecular testing, prenatal diagnostics and counselling. There are no two ways about it, such projects, equally, need the resourcesÞ, stressed the senior scientist.