Melody Petersen Los Angeles Times
WWR Article Summary (tl;dr) A new startup called "Orchid" is providing genetic testing of embryos to give parents the ability to select an embryo with the lowest risk of disease. "Orchid" says its exams include tests for schizophrenia, Alzheimer's, cancer and seven other diseases.
The decision of whether to have a child can be hard even under the best of circumstances. For those with a family history of debilitating disease, it's often gut-wrenching. If only there were some way to answer the all-important question: Will my child be healthy?
To those potential parents, a San Francisco startup is offering a solution: a genetic test of their embryos so they can select the one with the lowest risk of disease.
"We help couples have healthy babies," the company Orchid Inc. says of its tests for schizophrenia, Alzheimer's, cancer and seven other diseases. As much as health information, the 2-year-old company sells peace of mind. "I was apprehensive about having kids due to my family history, but after going through our report I feel in control," reads one testimonial on Orchid's website.
Scientists say it isn't that simple.
Peter Kraft, a Harvard professor of epidemiology, helped to develop the so-called polygenic risk scores that Orchid says are the backbone of its tests. He said the way Orchid uses them concerns him, raising the possibility that, for instance, parents could select an embryo estimatedsaid to be at a reduced risk of one disease without understanding it was at a higher risk for something else.
"Part of my worry is how upfront the company is when they're counseling parents of the likely benefit of these procedures." Kraft said. "There are some trade-offs that we just don't understand."
Experts have also raised ethical questions about the tests that Orchid, and another company called Genomic Prediction, are offering to test and select embryos.
Gabriel Lázaro-Muñoz, assistant professor at Baylor University's Center for Medical Ethics and Health Policy, said he was especially concerned about the companies' claims to reduce the risk of schizophrenia given the nation's history of discrimination against those with psychiatric disorders.
"Even though these companies are trying to market this technology within a medical context," he said, "we have to be really careful about potential misuses."
Orchid's 26-year-old founder, Noor Siddiqui, says she believes many of the concerns about her company's technology are a legacy of a healthcare system in which information is the province of doctors, not patients.
"A lot of these folks who are saying that parents shouldn't get access to this information I think are frankly being a little bit paternalistic," Siddiqui said last month in an interview on the biotech podcast Mendelspod. "It's not right for healthcare workers to be gatekeepers, saying that parents don't have the right to protect their child."
Orchid is just the latest Silicon Valley startup to promote lab tests directly to consumers, urging them to personally take charge of their health in ways that fall outside the healthcare system. Aiding them is lax regulation of lab tests in the U.S., and in Orchid's case, a similar lack of regulation of fertility treatments.
According to her bio, Siddiqui was a Thiel Fellow, a program created by billionaire Peter Thiel that gives $100,000 to young people who opt to explore inventions and entrepreneurship rather than sitting in a classroom. She founded a startup called Remedy, which aimed to use Google's augmented reality glasses to help healthcare providers care for patients. It didn't succeed.
She soon decided to return to school, graduating from Stanford with a master's degree in computer science. She taught a three-month course at Stanford in 2019 called "The Frontiers of Reproductive Technology." Siddiqui didn't respond to numerous requests to answer questions but has spoken recently in forums that are friendly to tech entrepreneurs.
Siddiqui said the Orchid process begins with a simple at-home saliva test of both parents. If those genetic tests show the the parents to be potential carriers for any of 10 diseases, they can then opt for in vitro fertilization at a fertility clinic offering Orchid's embryo tests.
In what Siddiqui calls "embryo prioritization," the clinic's doctors would then use Orchid's tests to rank the couple's embryos for their risk of disease. The embryo tests will be available later this year. Would-be customers can add their names to a wait list.
"I'm excited to give couples the ability to make their own luck — to bend the trajectory of their child's future toward health — no matter what cards they were dealt," Siddiqui tweeted last month in announcing the availability of the tests.
Siddiqui said Orchid had raised $4.6 million in seed funding from investors who include Anne Wojcicki, the founder of 23andMe, the direct-to-consumer genetic testing company, as well as Brian Armstrong and Fred Ehrsam, the founders of Coinbase, the app that lets people buy and sell cryptocurrencies.
Before Orchid, there was Genomic Prediction, a New Jersey company founded in 2017 by Stephen Hsu, a graduate of Caltech and UC Berkeley, and two other scientists.
"Already in early 2020 the first baby (a lovely girl) was born from an embryo screened in this way," Hsu, now a professor at Michigan State, told The Times in an email. He said the company's tests are now available in 200 IVF clinics around the world.
Like Orchid, Genomic Prediction offers to test embryos for the risk of major maladies including diabetes and heart disease. The company's original test also screened for intellectual disability — which quickly made headlines. "A new genetic test straight out of a dystopian sci-fi film aims to let hopeful parents pick smarter, taller, and healthier babies," declared a November 2019 story in the New York Post.
"The world's first Gattaca baby tests are finally here," said a headline in the MIT Technology Review that same month, referencing the 1997 movie in which parents select their embryos based on desired traits, including intelligence.
Laurent Tellier, the chief executive and co-founder of Genomic Prediction, told The Times the company's test of embryos for cognitive disability became so controversial that it no longer offers them.
"We decided that media focus on this specific trait distracted from the other health benefits of polygenic testing," Tellier said.
The tests from Orchid and Genomic Prediction go far beyond those that fertility clinics have been offering for years to look for conditions caused by single genes, such as cystic fibrosis or Huntington's disease.
The new tests are for more common and complex diseases that scientists have linked to variations in hundreds or thousands of genes. In recent years, scientists have been able to identify the genetic variants associated with these diseases by comparing the genomes of individuals who suffer from the maladies with those who don't. That work has generated the polygenic risk scores.
Scientists and doctors are just beginning to try to use these risk scores to assess adults' risk of inherited diseases. They say they still have much to learn about how a person's genes influence their risk of disease. Factors such as diet, sleep, stress and smoking can also affect that risk.
But that hasn't stopped Orchid and Genomic Prediction, which also calls itself LifeView, from moving ahead with applying polygenic risk scores to embryos.
Kraft, the Harvard geneticist, pointed out that many of the genetic variants are tied to multiple diseases or human traits. That means if a couple selects an embryo with a certain variant to reduce the risk of one disease, they could be increasing the risk of another condition in ways that scientists don't yet understand, he said.