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A startup called Orchid is offering a spit test that tells a couple the odds that their children will grow up to have certain conditions. It works as follows: a couple orders the test, each partner spits into a vial and sends the sample off. What they get in return for their saliva is a report telling the couple whether their prospective child has a typical or elevated genetic risk of developing conditions such as Alzheimer’s, heart disease, certain cancers, diabetes and schizophrenia. They also receive individual reports for each partner, with information on their own genetic risks for these conditions.
“We’re in an age of seismic change in biotech – the ability to sequence genomes, the ability to edit genomes, and now the unprecedented ability to impact the health of a future child,” said Orchid’s founder, Noor Siddiqui, in a press release. Orchid is now inviting couples to join the waitlist to get early access to the test. Siddiqui, who recently graduated from Stanford University with degrees in computer science, has said in a podcast interview that the company planned to invite couples to take tests as early as April 2021, although it is unclear if the tests are available yet.
Orchid's next product, which Siddiqui said is coming later this year, is the Embryo Report. Couples using in-vitro fertilisation (IVF) can ask their doctor to order Orchid’s embryo testing on their behalf. Embryologists can then prepare the samples, which will be sent off to Orchid’s lab to be analysed. Each individual embryo is screened, quantifying its genetic risk for common conditions, including breast cancer, prostate cancer, heart disease, atrial fibrillation, stroke, diabetes, inflammatory bowel disease, schizophrenia and Alzheimer's. Once the “healthiest” embryo is found, it can then be implanted.
Orchid’s report relies on what are called polygenic risk scores. These scores estimate the likelihood that an individual will develop a particular condition, based on an analysis of their genome. The data for generating these scores come from large studies that compare the genomes of a group of people with a particular disease to a group of people without that disease. “It's been clear for some time that polygenic risk scores in and of themselves have several issues that would make them challenging to use in the clinic,” says Lior Pachter, a computational biologist at California Institute of Technology.
The company, which raised $4.5 million (£3.2m) in funding in April 2021, is backed by a number of high-profile investors, including Anne Wojcicki, the CEO of 23andMe, and Brian Armstrong, CEO of Coinbase. Orchid hasn’t revealed how much a test would cost, but a source told MIT Technology Review that it charges $1,100 (£784) for its Couple Report.
In the UK and the US, couples undergoing IVF can already undertake screening that shows their risk of a child having diseases, such as cystic fibrosis or sickle cell disease, that are caused by mutations in a single gene. The genetics behind these diseases are generally well-understood, but the diseases Orchid claims to provide risk scores for are much trickier to predict. Conditions such as heart disease or schizophrenia can be caused by a complex interaction between multiple genes and environmental influences.
“When I first saw it, I was like, no, just no,” says Genevieve Wojcik, a genetic epidemiologist at Johns Hopkins University. Wojcik has studied polygenic risk scores in diverse populations, and she's concerned that the tests won't be as accurate for non-white individuals as they are for white people. Polygenic risk scores are typically based on genome-wide association studies, which are made up mostly of participants of European descent. Over 75 per cent of participants in all genome-wide association studies come from a European background, according to one study. Because there’s a big bias towards white populations in this database, this translates into a similar bias in polygenic risk scores, she says.
Wojcik takes the example of BMI. Within Hispanic and Latino populations, people with higher proportions of indigenous American ancestry had higher risk scores for elevated BMIs. But in reality, this has not been found to correspond to a higher BMI. In people of Asian and African ancestry, the accuracy of polygenic risk scores has been found to drop even lower – one study found that the prediction accuracy of polygenic risk scores was 1.6 times lower in South Asians, 2.0 times lower in East Asians and 4.5 times lower in Africans when compared to people of European ancestry.
Wojcik is worried that the test results might not be equally accurate for everyone. This issue is personal to Wojcik, who is half-Chinese, and has two children with her husband, who is Hispanic. And these populations for which the results are most inaccurate also carry a disproportionately high burden of morbidity and mortality, she says, and could further exacerbate health disparities. “So you're really leaving the most vulnerable behind,” Wojcik says. Orchid's website says that its tests are not intended to discourage couples from having children, and a spokesperson for the company says that if it does not have sufficient data for a specific consumer or condition, it will not return a score for them.
Another San Francisco-based startup, MyOme made headlines in 2018 for offering a similar service, and Genomic Prediction, based in New Jersey, announced in 2019 that at least one woman has become pregnant with embryos that were selected after pre-implantation genetic testing for polygenic traits. The latter also offers an intelligence screening service that purports to enable parents to identify and reject embryos with a higher risk of growing into a child with a lower IQ.
It’s sending the message that people affected by these diseases are not desired by society, says Glenn Cohen, a professor at Harvard Law School who specialises in bioethics. “What the company is really saying is, we're going to help determine if your child has schizophrenia, and then we’re going to affirm your view that having a child who has some risk of schizophrenia is not a child you want to have, and we're going to empower you to replace it with a child you prefer.” Cohen refers to this as “liberal eugenics” – the idea that individuals are empowered to voluntarily choose what kind of children they want to have.
“If you're really concerned about what the life of a person with schizophrenia looks like in America or the UK, the solution is not to empower more parents to avoid children with schizophrenia – the solution ought to be to find ways to improve the lives of people with schizophrenia,” Cohen says. “I would love to hear what kind of work the company is doing to contextualise these polygenic risk scores in a way that actually helps people understand the disorders in question, rather than merely says, here's your number – good luck.” Siddiqui and Orchid failed to respond to multiple requests for an interview or comment. The company does have a number of blog posts on its website that feature the perspective of people whose loved ones suffered from some of these conditions.
Then there's the issue of cost. The price of undergoing IVF ranges from $10,000 to $15,000 per cycle in the US. Orchid says that it proposes to help “every couple have a healthy baby.” But not every couple can afford to pay those costs, although Orchid has said on its website that couples can apply for financial assistance to help with costs.
For Wojcik, Orchid's test is just another example of how polygenic risk scores can be abused without proper regulation or oversight. “I don't think that they have a sound business model, I don't think that they have sound science,” she says. “And I don't think it's good for society, in general.”
Updated May 20, 2021 16:30 BST: This article was updated to clarify statements concerning the the accuracy of polygenic risk scores. Information from Orchid's website has also been added.
Updated May 21, 2021 10:52 BST: This article was updated to include common from a Orchid spokesperson.
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This article was originally published by WIRED UK
