Orchid founder Noor Siddiqui on whole-genome embryo screening: giving IVF parents 100x more genetic data

Summary

Noor Siddiqui, founder of Orchid, frames embryo screening as a straightforward personal decision rather than an ideological battleground. Her core position: the most fundamental parenting instinct is wanting a child to suffer less, and whole-genome embryo screening is the earliest available tool to act on that instinct. She treats the broader philosophical debate about what is lost when reproductive technology supplants chance the same way she treats debates about epidurals — a matter for individual families, not public consensus.

The Clinical Case

Siddiqui makes a data-driven argument for screening at the embryo stage rather than during pregnancy. 60% of children with moderate to severe intellectual disability have a confirmed molecular genetic cause, and many of those are de novo mutations — spontaneous changes that occur in the embryo itself, meaning parental screening alone cannot catch them. 50% of miscarriages are also attributable to genetic causes. Screening at the embryo stage, she argues, is more compassionate than forcing women to navigate those decisions mid-pregnancy.

Why This Wasn't Possible Until Now

The technical barrier was not sequencing cost or FDA approval — it was the vanishingly small amount of biological material available. A day-five embryo contains roughly 125 cells, of which five are sent to Orchid for analysis. Those five cells yield approximately 30 picograms of DNA, an amount too small for standard sequencing pipelines. Orchid developed a proprietary amplification protocol to generate high-quality whole-genome data from that sample, which Siddiqui says makes Orchid the first company capable of doing this.

The second constraint was interpretive. Two decades of population-scale sequencing — millions of people — were required to catalog the genetic basis of conditions including pediatric heart defects and syndromic forms of severe autism. That catalog now exists and underpins Orchid's disease risk models.

A third layer involves polygenic scoring: moving beyond binary "affected or unaffected" calls for single-gene disorders to quantifying susceptibility across conditions where risk is distributed across many variants. Siddiqui describes these three developments — novel amplification, disease cataloging, and polygenic modeling — as converging simultaneously to make comprehensive embryo screening viable.

Regulatory Pathway

Orchid operates under the Laboratory Developed Test (LDT) framework, regulated by CLIA (federal) and CAP (College of American Pathologists) rather than through a traditional FDA drug approval process. Both agencies conduct annual physical and analytical audits, including blinded proficiency testing where labs must correctly interpret provided DNA sequences. Orchid holds a separate patent on its amplification technology, which is distinct from the regulatory pathway. The model is ongoing compliance rather than a one-time approval event.

Market Positioning and Controversy

Siddiqui acknowledges the product occupies unusual commercial territory: the same announcement that generates immediate, relieved inbound from one prospective customer generates hostile responses from another. She does not engage with critics on the normative question of whether widespread IVF adoption would represent a societal loss, positioning that debate as outside Orchid's purview. Her consistent frame is that stigmatizing either choice — screening or not screening — is the problem, and that access to the tool should be universal for those already in the IVF process.