(The article has been contributed by Dheeraj Jain, Founder, Redcliffe Life Sciences)
Today’s world is facing tremendous health-related challenges, not just related to COVID-19 but also other diseases like genetic disorders (also known as rare diseases). However, technology innovation helped both prevention and early-stage diagnostics/prognosis of some of these diseases, at an earlier stage of discovery.
The technology powered by DNA-based next-generation sequencing has changed how we diagnose some diseases, and its application in Reproductive Medicine is becoming mainstream. One area recommended for pregnant women above 30 years of age by most of the fetal medicine clinicians is prenatal screening also known as Non-Invasive Prenatal Screening or NIPS.
NIPS is a screening test for common genetic conditions like Down Syndrome by checking if your baby has any missing genetic material that may lead to a medical condition. Generally, such tests are carried out by taking a DNA specimen from the unborn baby's amniotic fluid, blood, or placental tissue.
However, such invasive processes have become inadvisable during the current pandemic scenario.
The risk of COVID-19 infection has impacted caregivers and patients alike. It is estimated that the demand for non-invasive tests has doubled compared to the pre-COVID-19 days.
These tests, which yield results faster, are also gaining popularity due to higher accuracy and sensitivity. With NIPS, the regular double and triple marker test will become obsolete in the coming years. (A positive test result doesn't mean the baby has aneuploidies, but identifies that there’s a risk towards a down syndrome and therefore further procedure/tests like CVS need to be done.)
According to experts, social good is to be given greater importance compared to personal benefits. Hence, the demand for an alternative that reduces the risks has necessitated widespread adoption of the non-invasive prenatal screening/testing.
A pregnant woman's bloodstream has a mix of cfDNA from her cells as well as from the placenta cells. These keep moving into the mother's bloodstream throughout her pregnancy period. This DNA is usually the same as the fetal DNA. Analyzing this cfDNA can increase the likelihood of detecting specific genetic problems in a non-invasive manner.
The process is non-invasive since it only requires drawing a small blood sample from the pregnant woman and poses no risk to the fetus.
It must be noted that it is a screening test and not expected to conclusively confirm whether the unborn child has a genetic condition or not. Since NIPS examines the cfDNA of the mother as well as the fetus, it also has the potential of identifying specific genetic disorders in the mother.
Various major genomics diagnostics companies in India are collaborating now to pool in the logistics and sequencing locations effectively, and are reaching out to the customers and the clinicians. In the past, various hospitals used to send these samples to western countries such as Germany for NIPS. However, the COVID-19 outbreak has made it imperative for them to work in tandem with Indian labs. This also has significant cost and time savings to the service providers and the customers alike.
Even in the post-lockdown scenario, the availability of NIPS facilities locally would see great market growth and improvement in the overall service standards in the sector.
At 27 million births annually, India currently has one of the highest birthrates in the world. However, the infant mortality rate is also high at nine million deaths per annum.
The second most common cause of these deaths is a genetic and congenital abnormality. The number can be significantly lowered, provided early screening of pregnancy becomes a regular practice.
NIPS is already emerging as a highly preferred, safer, faster, and more reliable technique in India.
The need of the hour is public-private partnerships that can enable this and give it more momentum.