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.
The news of the company’s endeavour has been met with fierce backlash from some scientists. “There’s no solid scientific basis right now for this idea,” says Lior Pachter, a computational biologist at Caltech. In fact, he says, scientists may never be able to look at somebody’s genetics and really determine whether they’re going to get something as complex as schizophrenia. “I think it’s really quite disturbing that the company would suggest, let alone actually perform, screening on the basis of these very sort of qualitative measures and very weak associations.”
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 them in the clinic,” says Pachter.
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.