GenePeeks Looks to Shake up Preconception Testing With "Digital Babies"

6/18/14Follow @benthefidler

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.”

GenePeeks CEO Anne Morriss

GenePeeks CEO Anne Morriss

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 a business? In baby steps. GenePeeks is first trying to build up credibility, and business, by offering its service at sperm banks, where it feels it has a clear advantage over standard practices—and doesn’t face competition from conventional carrier testing. Morriss says currently, most sperm banks just screen donors for a “handful” of diseases, 10 or so based on the ethnicity of the donor. Silver adds that conventional carrier testing “has no utility” in sperm banks, because every single person carries recessive gene mutations, and the industry standard is to reject donor applicants who come up positive on any genetic test—meaning, if carrier screening were widely implemented, they’d have no donors.

GenePeeks is trying to form partnerships with sperm banks to keep expanding the catalogue of donors that it can match with clients. There are no economics involved in these partnerships: the sperm banks just get another service to offer, and GeenPeeks gets access to more data and potential clients.

While Morriss says GenePeeks can break even selling to sperm bank clients, the much bigger opportunity is offering their service to everyday couples looking to have children. GenePeeks’ challenge is first to get there by amassing credibility and building a sustainable business, and then differentiate itself in a market where a slew of companies—startups and heavyweights alike—are duking it out with various versions of carrier tests.

GenePeeks Chief Science Advisor and co-founder Lee Silver

GenePeeks Chief Science Advisor and co-founder Lee Silver

Silver argues, however, that the company’s technology has the capability to do a few things conventional carrier screening can’t. For one, he says, conventional screening looks for a finite set of the most common mutations, but doesn’t screen for the other, less common ones that can also cause a disease. GenePeeks can, because it’s sequencing the whole genome of each parent and combining them. This means that GenePeeks’ test might reveal carriers of, say, cystic fibrosis who wouldn’t show up in other tests, Silver says.

Secondly, Morriss adds that the technology could eventually enable the company to look at more complex diseases that involve multiple mutations.

“That’s something that the carrier testing world will never able to do,” she says. “And the limit there is just how quickly the research can go in terms of uncovering the genetic origins of those diseases.”

GenePeeks has a lot of work to do to get there, of course— it’s a very early-stage company at this point. The startup is only partnered with two sperm banks so far, and its database only consists of about 100 donors. GenePeeks, which just launched Matchright at the end of May, also has yet to see if these sperm bank clients will be willing to pay $2,000 apiece to help alleviate the real—but low—risk of passing on an inherited genetic disease. As of now, seven people have received a personalized GenePeeks catalogue in test runs; the company hasn’t made a sale yet.

And Morriss notes two of the big strategic challenges GenePeeks is facing right off the bat: creating awareness, and deciding just how long to stay in the sperm donor market before trying to make the leap. The company is currently raising a “few million” dollars of venture debt, but Morriss knows GenePeeks will need much more capital if it wants to expand and take on carrier testing more broadly. For now, it’s treading cautiously.

“The thinking is, let’s build [this company], let’s provide a fantastic service for this community…and then earn the right to think about expansion,” Morriss says. “We definitely want to walk before we run.”

Ben Fidler is Xconomy's Deputy Biotechnology Editor. You can e-mail him at Follow @benthefidler

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