Whole-Genome Sequencing Poised too Transform Pregnancy & Reduce Genetic Disease Risk
A new frontier in reproductive technology is emerging with teh increasing accessibility of whole-genome sequencing (WGS) for embryos undergoing in vitro fertilization (IVF).Orchid, a biotech company founded and led by Siddiqui, is at the forefront of this movement, offering comprehensive genetic analysis of embryos before implantation with the goal of significantly reducing the risk of inherited diseases.
Speaking at a recent summit in Boston alongside genomics pioneer George Church, a professor of genetics at Harvard Medical School, Siddiqui highlighted the potential of WGS to address both single-gene and complex, multi-gene conditions. Currently, an estimated 4% of the global population lives with a disease caused by a single genetic mutation – conditions that Siddiqui believes can be “fully avoided” through embryo screening. Beyond these monogenic diseases,roughly half the worldS population suffers from chronic illnesses with at least a partial genetic component.
Orchid’s approach involves analyzing multiple embryos – up to five – to identify genetic predispositions. Siddiqui stated that this process can mitigate the genetic component of risk for chronic diseases by 30% to 80%,depending on factors like disease prevalence,the number of embryos analyzed,and the influence of the specific genetic variants screened.Detailed statistical analysis outlining potential risk reduction is available on Orchid’s website.
The dramatic decrease in the cost of genome sequencing is making this technology increasingly viable. While the Human genome Project initially cost $3 billion, Orchid now offers whole-genome sequencing for embryos at a cost of several thousand dollars per embryo. Church, who is also an investor in Orchid, believes this represents a significant return on investment, perhaps solving “a huge fraction of our health care costs, psychological problems, and family issues.”
siddiqui herself has utilized the technology to screen her own embryos, motivated by a family history of genetic conditions. Her mother experienced adult-onset blindness due to a specific genetic variation, which was successfully avoided in her selected embryos. She also prioritized screening for heart disease and diabetes, conditions prevalent in manny south Asian families.
While 95% of known single-gene diseases currently lack effective treatments or cures, WGS extends beyond these monogenic conditions. Orchid’s tests also analyze polygenic diseases – those influenced by multiple genetic variants, such as schizophrenia, bipolar disorder, and heart disease – utilizing genetic risk scores to quantify potential disease growth risk in both adults and embryos.
This emerging technology promises a future where prospective parents have greater insight into the genetic health of their future children, potentially leading to a notable reduction in the burden of genetic disease.