world Noor Siddiqui predicts that pregnancy will fundamentally change. “I think that the default way people are going to choose to have kids is via IVF and embryo screening,” she said at the Wired Health Last week’s summit. “You only have a big risk to take off the table.”
Siddiqui is the founder and CEO of Orchid, a biotech company Genome-wide screening IVF embryo. Orchid says that by analyzing the DNA of different embryos before choosing which implant to implant, parents can reduce the risk of their children’s growth being affected by the genetic basis. Siddiqui is talking with George Church, a professor of genetics at Harvard Medical School at the summit in Boston, exploring the hopes and potential of whole-genome sequencing.
one Estimated 4% of people worldwide suffer from a disease caused by a single genetic mutation. Through embryo screening, “these monogenic diseases can be completely avoided,” Siddiqui said. Most importantly, about half of the world’s population suffers from at least some kind of chronic disease. Siddiqui analyzed five embryos before implanting one embryo, “You can now mitigate the genetic component of that risk with these double-digit numbers. In the worst case, you are talking about 30%, and in the best case, up to 80%.
Orchid website, which one refer to Statistical analysis of how much risk can be achieved through embryo screening, explains that the exact reduction of relative risk will depend on many factors. These include the prevalence of the disease, the number of embryos analyzed, and the effect of genetic variations screened on the possibility of developing the disease.
The church is an investor in Orchid and believes the type of embryo screening it offers is one of the most cost-effective medical technologies ever. The Human Genome Project is the first effort to map all human genes, costing $3 billion, but since then, the cost of sequencing the genome has dropped dramatically. The entire genome of orchids costs thousands of dollars per embryo. The church believes that it is “perhaps a 10x return on investment.” “This approach can address a large part of our health care costs, psychological problems and family problems.”
Siddiqui uses this technique to screen out its own embryos. She shares her mother’s story, who experienced blindness in adults due to genetic mutations in the genome. “Luckily, all embryos are negative about this,” she said. “But, in most South Asian families, another thing is the extremely high risk of heart disease and diabetes. So, it’s really another thing we’re based on priorities.”
The blindness described by Siddiqui is monogenetic, meaning it is caused only by a single genetic variant. Of the known monogenic diseases, “95% are not treated, let alone cured.” But many other diseases, such as schizophrenia, bipolar disorder, or heart disease, are driven by the cumulative effects of many genetic variants. To this end, genetic risk scores can quantify the risk of potentially developing diseases and can be calculated for both adults and embryos. The embryo test of orchids looks for two diseases.
