I spent the long months of pregnancy that followed feeling like a cartoon character with a me-size thunderstorm threatening at every turn. Though my pregnancy was healthy, I was convinced I had to remain vigilant until my son was in my arms. When my husband and I visited my obstetrician nine days past my son’s due date, I wasn’t surprised to see an irregularity in his heartbeat. Less than an hour later, we were checking into the hospital to start my induction. Later that night, my son’s heartbeat dropped again, prompting a small army of doctors and nurses to rush the delivery room. But he recovered, my body stopped resisting, and then it was over. We sat together in the emptied room, my son curled against my husband’s chest, his tiny hat askew. Here was my family.
Do our beginnings matter? It’s the question at the heart of Orchid, one of a new wave of companies performing genomic screening on human embryos. Roughly 40% of in vitro fertilization (IVF) cycles today include genetic screening, but in almost all cases, the tests are a relatively rudimentary gauge of obvious chromosomal abnormalities, with results similar in scope to a prenatal amniocentesis test. Orchid and its competitors, all of which were founded within the last decade, assess embryo health in a far more comprehensive, and potentially more radical, way.
For Noor Siddiqui, Orchid’s 31-year-old founder and CEO, old-fashioned origin stories, like my son’s, are the equivalent of “rolling the dice,” as she often says. She doesn’t yet have children, but she and her husband hope to someday have two sons and two daughters. To prepare, she has frozen more than a dozen embryos, and plans to retrieve even more eggs. In keeping with Orchid’s protocols, her embryos have been biopsied; the DNA contained in those four- to six-cell biopsies has been amplified; and the resulting genomic data has been sequenced and scored for chromosomal abnormalities, as well as cancer, autism, diabetes, birth defects, and hundreds of other diseases and disorders.
The most important parenting decisions anyone can make, Siddiqui argues, happen before birth: your choice of partner and your child’s genome. She views screening embryo genomes as a form of preventive medicine. “For the first time ever, parents can mitigate a massive amount of risk that was previously left to chance,” she says. She imagines that future couples will start their parenting journey as she did, by reviewing a data-rich, tastefully designed embryo report for each of their prospective children. They will be able to remove from consideration any embryos with serious and often rare monogenic conditions, such as cri du chat syndrome, and compare relative risk on more complex conditions, including intellectual disability and schizophrenia.
Siddiqui has no doubt that the practice will one day be widely accepted, and essential.