The world of Pregnancy will change radically, predicts Noor Siddiqui. “I think the way people will choose to have children is via IVF and embryos screening,” she said at the Wired Health summit last week. “There is just a huge risk that you can withdraw from the table.”
Siddiqui is the founder and CEO of Orchid, a biotechnology company which offers screening for the whole genome of the embryos for IVF. By analyzing the DNA of different embryos before selecting the one to be implanted, says Orchid, parents can lower the risk that their children grow up affected by conditions with a genetic base. Siddiqui spoke with George Church – a pioneer in genomics and professor of genetics at the Harvard Medical School – at the top in Boston, exploring the promise and potential of sequencing the whole genome.
It is estimated that 4% of people around the world have a disease caused by a single genetic mutation. With the test of the embryo, “these monogenic diseases can be completely avoided,” said Siddiqui. In addition to that, about half of the world’s population suffers from a chronic disease with at least one genetic basis. Analyzing five embryos before setting up it, said Siddiqui, and “you can now mitigate the genetic component of this risk by these two -digit figures. You speak in the worst of cases to 30% and in the best of cases up to 80%. ” (You can watch the session in the video below; there is a problem at the start with the microphone of Noor Siddiqui, which is fixed around the 6-minute brand.)
The Orchid website, which refers to the statistical analysis on the quantity of risk reduction can be carried out thanks to the screening of the embryos, explains that the exact reduction of the relative risk will depend on a certain number of factors. These include, among other things, to what extent the disease is widespread, the number of embryos analyzed and the influence of outdated genetic variants have on the probability of developing the disease.
Church is an investor in Orchid, and thinks that the type of screening of the embryos it offers is among the most profitable medical technologies ever created. The human genome project, the first effort to map all human genes, cost $ 3 billion, but since then, the cost of sequencing a genome has decreased spectacularly. Orchid’s entire genome sequencing costs several thousand dollars per embryo. It is “maybe a return on investment of 10 times,” believes Church. “A huge fraction of our health costs, psychological problems and family problems could be resolved by this method.”
Siddiqui used technology to filter its own embryos. She shared the story of her mother, who experienced the blindness of adults following a genetic variation of her genome. “Fortunately, all embryos are negative for that,” she said. “But the other thing that is quite common in most families in South Asia is an incredibly high risk for heart disease and diabetes. It is therefore the other thing on which we prioritize.”
The blindness that Siddiqui has described is monogenic, which means that it was caused by a single genetic variation. Among the diseases with a known single gene, “95% have no treatment, even less a remedy,” said Siddiqui. But many other conditions – such as schizophrenia, bipolar disorder, or heart disease – are polygenic, driven by the cumulative impact of many genetic variants. For this, genetic risk scores can quantify the risk of potentially developing a disease, and they can be calculated for both adults and embryos. Orchid embryon tests are looking for both types of diseases.
