Whole-Genome Sequencing: The Future of Pregnancy Care
▼ Summary
– Noor Siddiqui predicts IVF with embryo screening will become the default method for having children to reduce genetic risks.
– Orchid offers whole-genome embryo screening to lower the risk of children developing genetically-based conditions.
– Embryo screening can completely avoid monogenic diseases and significantly reduce risk for polygenic chronic diseases by double-digit percentages.
– George Church believes Orchid’s screening is highly cost-effective and could solve a huge fraction of healthcare costs and family issues.
– Siddiqui used the technology to screen her own embryos for risks like adult-onset blindness and common South Asian health conditions.
The landscape of prenatal care is on the verge of a profound transformation, driven by advances in genetic technology that promise to reshape how future generations approach family planning. According to Noor Siddiqui, founder and CEO of Orchid, in vitro fertilization combined with embryo screening is poised to become the standard for prospective parents seeking to minimize health risks for their children. Speaking at the WIRED Health summit alongside genomics pioneer George Church, Siddiqui emphasized the potential of whole-genome sequencing to dramatically reduce the incidence of genetically influenced conditions.
Siddiqui’s company specializes in comprehensive genetic analysis of embryos created through IVF, offering parents detailed insights before implantation. This approach allows families to significantly lower the likelihood of their child developing certain hereditary illnesses. An estimated four percent of the global population lives with a disorder caused by a single genetic mutation, conditions that Siddiqui notes can be “completely avoided” through screening. Beyond these monogenic disorders, nearly half of all people experience chronic diseases with genetic contributors. By evaluating multiple embryos, parents can reduce these risks by anywhere from 30 to 80 percent, depending on individual circumstances.
Orchid’s methodology accounts for variables such as disease prevalence, the number of embryos available for analysis, and the specific genetic factors involved. The company’s statistical models help quantify potential risk reduction, offering personalized assessments for each family. Church, a Harvard Medical School genetics professor and investor in Orchid, regards this technology as one of the most economically impactful innovations in modern medicine. While the initial Human Genome Project required billions of dollars, the cost of sequencing has since plummeted. Today, Orchid’s full-genome service runs several thousand dollars per embryo, a fraction of the lifetime costs associated with managing chronic illness.
Siddiqui brings a personal perspective to her work. Her own family history includes adult-onset blindness linked to a specific genetic variation, a risk she was able to avoid through embryo screening. She also highlighted common health concerns in South Asian populations, such as elevated risks for heart disease and diabetes, which can now be prioritized during genetic evaluation.
Monogenic disorders, like the one affecting Siddiqui’s mother, often lack treatments or cures. In contrast, polygenic conditions, such as schizophrenia, bipolar disorder, and cardiovascular disease, arise from the combined effect of numerous genes. Orchid’s screening process addresses both categories, generating genetic risk scores that help prospective parents make informed decisions. This dual approach represents a significant step toward a future where genetic insight empowers families to foster healthier lives from the very beginning.
(Source: Wired)