By Ariel Grossman, NoCamels -
Around eight million babies are born every year with a birth defect, an understandable cause for concern for expectant mothers.
And while there are existing tests that can see if an infant is likely to be born with a genetic defect, they are expensive, invasive, and can occasionally result in complications like infections, premature labor, or even miscarriage.
Many mothers-to-be therefore opt to stay in the dark until the day they finally welcome their new arrival to the world.
Israeli startup IdentifAI Genetics says it can determine whether a baby will be born with any kind of genetic disorder, with a simple and inexpensive blood test at the early stages of pregnancy.
The startup aims to provide answers to expectant parents within less than a week. By comparison, it can take anywhere between two to three weeks to receive results for standard prenatal tests.
Solving The DNA Puzzle
There are millions of DNA pieces in a single drop of blood, explains Amir Beker, CEO and co-founder of IdentifAI. And in the case of a pregnant mother, her blood carries not only her own DNA, but pieces of her unborn child’s DNA as well.
This is because some of the cells of the placenta, the only fetal tissue that is in direct contact with the mother’s body, naturally break down and release DNA into her bloodstream.
IdentifAI’s advanced algorithms first separate out the DNA pieces of the mother and the fetus in the blood sample – a challenging task given that only 10 percent of them are from the baby’s genome (complete set of DNA).
Beker likens the DNA pieces to the parts of two puzzles that are mixed together.
“Ten million pieces of the puzzle are the mother’s DNA, and the other million pieces are the fetal DNA, which are almost identical,” he tells NoCamels.
The second stage of the process is to realign the fragments of the fetus’ DNA into its entire genome. The process of separating the DNA and reconstructing it takes mere hours to complete. And after it’s done, scientists can analyze the results and determine whether the baby has any genetic defects.
Terminating the pregnancy, stresses Beker, is not the only answer after discovering that an unborn baby has a birth defect, and catching it early could widen the prospects for treatment.
“Some diseases may be cured, and some defects may be corrected using surgical procedures in the womb,” he says.
“We can also indicate diseases at an early enough stage in the pregnancy in order to treat them.”
A Safer Solution
There are currently two main tests to determine whether an unborn child has a genetic disorder. Amniocentesis, performed during the second or third trimester of pregnancy, can diagnose certain chromosomal conditions (such as Down Syndrome) and other genetic conditions.
It involves inserting a thin needle into the abdomen and removing a small amount of amniotic fluid from the sac surrounding the fetus, which contains some of the fetus’ cells and genetic information, to help diagnose genetic conditions.
The second test is chorionic villus sampling (CVS), which uses a sample of tissue from the placenta. The tissue is obtained either by inserting a catheter through the cervix into the placenta, or by injecting a needle through the abdomen and uterus and into the placenta.
Both tests, which cost several thousand dollars, are not without their risks.
According to Britain’s National Health Service, around one in 100 women may undergo a miscarriage after having an amniocentesis or CVS. Most miscarriages occur within three days of the procedure, but they can happen up to two weeks later, and doctors aren’t sure why.
Other complications from the procedure are rare as well, but may lead to cramping, injury or infection, and premature labor.
“Both of these tests are risky to some extent,” explains Beker. “This is why most pregnancies are just continuing in the dark in terms of genetic anomalies and genetic diseases.”
While non-invasive prenatal testing (NIPT) does already exist, it can only identify 10 percent of all genetic disorders.
More specifically, it identifies trisomy disorders – genetic conditions where there is a presence of three chromosomes instead of the usual pair of two, such as Down Syndrome.
A Test For All Women
IdentifAI says it is the best of both worlds: a non-invasive prenatal test that has the same accuracy and range as amniocentesis and CVS.
“We do not know of any other platform that is universal and provides results at the maximum resolution,” says Beker. “Not in the market nor in academia.”
Founded in 2019, IdentifAI is a culmination of over a decade of research by its CSO Noam Shomron, professor of Cell and Development Biology at Tel Aviv University, and his PhD student and company CTO Tom Rabinowitz.
The two created the company along with Beker.
IdentifAI most recently presented its solution at the annual BioMed Israel Conference in Tel Aviv last May, which showcases the latest developments in healthcare.
The startup, which is based in Tel Aviv, has conducted clinical trials in several Israeli hospitals. It will soon embark on its first US-based clinical trial in collaboration with Columbia University and researchers at the Lenox Hill Hospital, both in New York.
The company hopes that its genetic testing will be ready for clinical use within 18 months.
It’s too soon to say what the business model will look like, Beker says, explaining that IdentifAI may partner with big labs or companies already offering NIPTs and license its technology to them as a digital health service.
His vision is to ultimately have every pregnant woman use IdentfAI before the end of their first trimester to determine whether their unborn child has a genetic defect.
“Imagine a world in which a totally risk-free, non-invasive and simple blood test from the mother, at an early stage of the pregnancy, could indicate any genetic anomaly,” he says.
