ACCORDING to iGene Diagnostics Pte Ltd, amniocentesis, which is an invasive procedure that high-risk pregnant mothers are often asked to go through to diagnose conditions such as Down Syndrome in their unborn babies, carries about a one per cent chance of causing a miscarriage.
One of the founders of the company, Dr Mahesh Choolani, explained that amniocentesis is a process where a needle is inserted inside the uterus, and some amniotic fluid is taken out for testing.
The risk of miscarriage from the invasive process is compounded when considering the fact that women are increasingly getting pregnant at an older age, leading to a higher risk of problems during pregnancy and they are therefore more likely to be recommended by doctors to undergo amniocentesis.
iGene chief marketing officer Vinita Choolani said: "As women age, the risk of problems in pregnancy increases, including fetal abnormalities such as Down Syndrome. Doctors are therefore be more likely to recommend invasive prenatal diagnostic tests such as amniocentesis."
Ms Choolani also added that, as a mother who herself was asked to go through the process, the complications associated with the invasive procedure cause mothers a great deal of anxiety. "Mothers will tend to feel protective of their child and do not want a needle anywhere near their unborn baby."
Simple and non-invasive
Enter iGene's Non Invasive Prenatal Test (NIPT).
With a procedure as simple as drawing blood from the mother's arm, she will have information about her baby's health that would have otherwise taken a needle inside her womb to find out.
While the new test that iGene is offering does not completely eliminate the need for invasive tests such as amniocentesis, it promises to bring down the need for it, especially if there was no need for it in the first place in instances where the baby turns out to be perfectly normal.
One crucial difference between iGene's test and current invasive procedures is that while the NIPT is just a screening test, amniocentesis is a diagnostic test, said Dr Choolani.
If a mother who takes iGene's test has a positive result - meaning that her baby likely has a chromosomal abnormality - then she would still be advised to undergo amniocentesis.
The power of the test, therefore, lies in its ability to reduce unnecessary invasive procedures by about 95 per cent, he added.
Through iGene's test, a pregnant mother can have information about her unborn baby, with no risk of miscarriage, with a simple blood test which is more than 99 per cent accurate. Apart from Down Syndrome, the test is also able to detect Edward Syndrome and Patau Syndrome, which are other chromosomal abnormalities. Around one in 700 babies are born with Down Syndrome, Ms Choolani added.
While there are other blood-based tests of this sort such as the first-trimester screen - a combination of a blood test and an ultrasound - this test carries a false positive rate of up to 5 per cent. This means up to five out of 100 babies are incorrectly classified as abnormal, when they are in fact normal.
The level of accuracy is possible because of iGene uses the whole genome sequencing approach, which reads millions of DNA (deoxyribonucleic acid) sequences. This allows a higher accuracy that other incumbent technologies cannot match, Dr Choolani said.
Setting up more labs
To perform the NIPT, the blood sample is sent to iGene's lab for analysis. Ms Choolani added that while a centralised lab is needed to process the sample, the company was looking at setting up multiple labs in several locations to expedite the process.
Dr Choolani said that apart from administering the blood test, iGene also focuses on providing complete clinical care centred around women's health. That may come in the form of training doctors and other medical professionals to be more familiar with aspects of women's health.
This is one way which Dr Choolani said the firm is committed to providing complete clinical care for women's health and in ensuring that both mother and baby have "the best start possible" when it comes to their health.
In the near future, the firm would expand its prenatal care options, and also include post-natal care such as newborn and paediatric screening.
When asked about its plans for commercialising and proliferating the NIPT to clinics and hospitals, Ms Choolani said that the company is working with hospitals and other institutions both in Singapore and other countries. She also added that mothers taking the test would be charged on a per test basis.
She revealed that the company had partnered with Parkway Pantai, a subsidiary of IHH Healthcare, as well as with the National University Hospital.
The NIPT is fully functional, and the company has already sold an undisclosed number of the tests. It has a S$2 million laboratory built in Singapore to support its local operations, and also has distribution agreements in other countries including Malaysia, Indonesia, the Philippines, and Vietnam.
Speaking about the growth potential for the company, Ms Choolani said that iGene is well positioned in Asia due to the higher birth rate in the Asian region compared to the European or American markets.
Furthermore, it is also collaborating with A*Star to develop new technologies that can filter fetal cells from the within the mother's blood sample. This would provide the full footprint of fetal genomics, allowing for the diagnosis of up to 6,000 genetic disorders and diseases. It is under development and the inital product launch of the new test is expected to come by the end of 2021.
Without disclosing specific figures, iGene said that its revenue had seen an increase of about 25 per cent year on year, and counts Spring Singapore as one of its investors.
Dr Choolani said: "iGene is a small business with big dreams. What we're hoping to do at iGene is for every woman to have access to the best possible care with the least amount of pain, anxiety, and cost."