Sperm banks only screen their donors for a handful of genetic diseases. Unfortunately, there are many more than that a donor could carry without having any telltale symptoms—and which could be passed on to a child. A startup called GenePeeks is looking to improve peoples’ odds of having a healthy baby—and beat a path towards the ultra-competitive carrier testing market in the process.
The road ahead will be tough. New York- and Boston-based GenePeeks is only weeks removed from introducing its first product, “Matchright”—a service that combines insights gleaned from DNA sequencing tools with a computerized platform to assess the risk of passing on one of around 500 genetic diseases via a sperm donor pregnancy. GenePeeks doesn’t have a base of customers yet, so it doesn’t really know what the market thinks of Matchright.
But GenePeeks’ CEO Anne Morriss and its chief scientific advisor, Princeton University professor Lee Silver, believe that they’ve got a product that won’t just become a standard feature in sperm banks, but will also eventually differentiate itself in the growing, and very competitive, market for carrier screening—blood or saliva tests that look for specific genetic mutations. That’s because, among other things, Matchright combines data from the mother and the father, rather than just looking at each one individually.
“Looking at your mother [for] whether you’re at risk of a rare disease, and your mother alone, is not a good proxy for you,” Silver says. “You need both your mother and your father. Essentially, that’s what we’re doing.”
The idea behind Matchright hits home for Morriss, whose first child, conceived via a sperm donor, was born with a rare, genetically-triggered metabolic disease called MCAD deficiency—in which the body, missing a key enzyme, doesn’t properly convert fats to energy. Morriss says, looking back, that while she was in Boston with some of the best healthcare in the world, no one suggested that she should look at the disease risk embedded in her own DNA, or that of a donor. That, along with the explosion of DNA sequencing technology, got her interested in trying to apply some new ideas to the clinical space.
“I was a silent carrier for MCAD [deficiency] and I was perfectly healthy, and I chose a donor who was perfectly healthy and he was also a silent carrier for this same condition,” Morriss says. “We’re all walking around with these silent mutations like this. In most cases, luck is on your side, the odds work out, but in 3 to 5 percent of live births, the odds don’t work out.”
A mutual friend hooked Morriss up with Silver, a molecular biologist at Princeton who had spent more than two decades researching mouse genetics. The two raised around $5.25 million from Columbus Nova Technology Partners and Selway Capital and came up with a computerized system for screening the potential offspring of sperm donors for genetic diseases.
Here’s how it works. A prospective mother looking for a donor gives GenePeeks a saliva sample, which is then be shipped to a vendor—Wheeling, IL-based DNA sequencing contractor ACGT—and sequenced. ACGT sends a raw report of the data to GenePeeks, which uses a proprietary, patented computational process to “match” that genomic information with the DNA of a catalogue of sperm donors. GenePeeks gets access to these donors through partnerships with sperm banks.
The matching process creates what GenePeeks calls thousands of “digital babies”—virtual genomes of hypothetical children—that are screened for their risk of inheriting around 500 severe pediatric diseases. Those diseases, like cystic fibrosis and beta-thalassemia, are similar to the ones on Illumina’s TruSight inherited disease panel. Silver says that for any particular pairing of client and donor, GenePeeks will create anywhere from 1,000 to 10,000 virtual genomes.
GenePeeks then provides the prospective mother with a personalized catalog of screened matches—excluding the pairings where there is “material risk” for one of the screened diseases, according to Silver. The whole process costs a client $1,995, Morriss says.
So, how to turn this idea into
