By Benjamin Ross
February 15, 2017 | GenePeeks is hoping to empower parents with knowledge of what the future may hold. That is, the awareness and security that comes from understanding what diseases two hypothetical parents may carry, and the probability of those parents passing a disease on to their yet-conceived child. GenePeeks has recently launched their new preconception screening service, powered by their patented Virtual Progeny Analytics (VPA) technology.
“What the world now knows is that we are all carriers for rare diseases,” Anne Morriss, CEO of GenePeeks, told Diagnostics World. “In a perfect carrier test, everyone would test positive for a disease. One of the premises of GenePeeks is, ‘What’s a more rational way to do this, in a world where we’re all carriers?’”
GenePeeks’s preconception screening service currently screens for more than 1,000 serious diseases, though there are no technical limits to how high that number could go.
GenePeeks was founded by Morriss and Princeton University geneticist Lee Silver in 2013 with the goals of improving the screening process for sperm banks, which would have potential parents make informed decisions about the potential diseases that could affect their child. In 2014, GenePeeks launched Matchright, a sperm donor matching service that provided for families who are planning to use a sperm donor to conceive.
Morriss has skin in the game as well, which motivates her to provide parents with information on potential genetic diseases their child may have. “My first-born son, Alec, was born with a rare genetic disease called MCADD deficiency,” she said. “One of the interesting thing about Alec’s disease is that it’s really binary in terms of outcomes in the sense that if you know there’s a risk, and you manage the disease, then your child gets to live a, God-willing, long and healthy life… Historically, we know there’s a real risk that if you don’t know about the disease, and the disease is not managed, then there’s a chance that, particularly in infancy, that children with MCADD won’t wake up.”
Fortunately, MCAAD is manageable once parents are aware and informed about what the disease is and how to treat it. Morriss holds firmly that GenePeeks empowers patients and clinicians with this information before the child is even conceived.
“In most cases you really need to look at what happens when two people decide to reproduce because most of the risk, generally with the diseases we’re looking at, is not going to be passed on by one person; it’s going to be passed on by two,” said Morriss. “So we simulate that process computationally, of what happens in reproduction, genetically, when two parental genomes comes together.”
GenePeeks is a preconception screening service, unlike the prenatal carrier screening service. The interest of the VPA is not focused on the genome of the parents, but rather on the future child. This fundamental difference allows clinicians to see risk and analyze data that is perhaps not possible using the traditional “plus-minus” carrier framework.
The VPA looks at how damaging a variant is on a spectrum, and then it looks ahead at the disease genotype. When two prospective parents come together, the VPA then looks at the combined functionality of a given genotype.
GenePeeks uses a variant gene dysfunction approach, which uses clinical data if and when available (“the gold standard,” as Morriss puts it) in a neural-networking approach that analyzes things like population frequency, evolutionary history, and all of the tools of modern molecular biology in order to distinguish how damaging on a 0-1 scale is a variant likely to be to the underlying function of a gene and how effective is a genotype going to be in supporting the health of a future child.
“Practically, there are ways carrier screening is used today. Clinically, most medical practices will look for a relatively limited number of diseases, and they’ll carrier test parents, and if a parent tests positive as a full blown carrier that test gets reflexed to the second partner,” Morriss said. “We bypass that intermediate step of parental carrier status, and we also think beyond what we see as a relatively limited framework of pathogenic or benign variants, for carrier or non-carrier, to a more spectrum view of variant impact.”
What the parents do with this information is up to them, but GenePeeks uses their service to provide the awareness of disease potential, only sounding an alarm when a couple is truly at risk for passing a disease on to a future child. This is tallied as a major advantage for GenePeeks. “At the end of the day, we’ll tell our families, ‘We believe you do have a material risk, or the risk that we’re seeing is not significant,’” Morriss explained. “We’ll have that same kind of conversation, but we can have it with more nuanced data, we can bring a more comprehensive approach to answering that question.”
Currently, GenePeeks is in an anchor partnership with Pacific Northwest Fertility and IVF Specialists, as well as four or five other partner clinics to be announced formally in the next couple of weeks. But GenePeeks does not feel the pressure to rush their screening service furiously, opting to roll out their product softly to parents and clinicians who want access to their technology.
Morriss is optimistic, not just for her company, but for the future as a whole, saying, “I think we are standing, as a society, at a really incredible moment scientifically when we can begin to protect future generations from diseases that we’ve never been able to manage before.”