When couples or hopeful mothers turn to a sperm bank to help them conceive, they’re presented with a slew of choices about their preferences for a potential donor: Brown eyes or blue? What skills are desirable? What is his family medical history?
A Cambridge genetic technology firm is looking to add a new dimension of consideration to that selection process by looking inside of both the woman’s and the potential donors’ DNA for hidden disease risks. It digitally marries the genetic profiles of a woman with potential donors, to predict whether their hypothetical child would be at risk for hundreds of recessive conditions.
Sperm banks now screen donors for infectious disease and to see if they are carriers for a handful of genetic diseases, said GenePeeks CEO Anne Morriss. What her company does isn’t carrier testing but something with a more expansive breadth and scope.
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To put it simply, GenePeeks gathers raw, sequenced DNA data from a male and female and creates thousands of virtual gametes that represent potential genetic profiles of that couple’s hypothetical child. Then, an algorithm goes to work, probing NIH clinical databases and using protein modeling to calculate whether variants present in those genetic profiles would likely result in damaged protein production – in other words, whether they would actually be likely to cause disease in that child.
“We’re not looking at carrier status in the hypothetical child,” explained Lee Silver, the Princeton University molecular biology professor who invented the algorithm. “We’re actually simulating the gene expression in each child and looking at whether a hypothetical genome is likely to have a disease.”
The result is a personalized catalog delivered to the client that features the pool of donors whose DNA is, for lack of a better phrase, most compatible with hers in terms of low perceived disease risk for the child.
Silver said the first version of the test launching this spring will focus on 500 single-gene diseases. These are diseases like cystic fibrosis and spinal muscular atrophy that are extremely well-understood at the genetic level and are caused by mutations on a single gene.
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There are limitations to the test, of course. It can’t predict spontaneous mutations and can’t predict chromosomal anomalies, like Down syndrome, that develop during or after fertilization. And there’s the cost factor — Morriss said a personalized catalog of risk-reduced donors will come at a price tag of about $2,000, paid out-of-pocket by the client. “As we grow, we hope to engage payers,” she explained.
GenePeeks, which is backed by two East Coast venture firms, has just secured patents on its algorithm and is working on validating its technology through what Morriss called a “massive virtual clinical trial.” It’s using data from the 1,000 Genomes Project to create a million virtual children and explore the incidence that the algorithm predicts for each disease.
Meanwhile, the Cambridge company is working with Manhattan Cryobank and European Sperm Bank USA in Seattle to begin building a network of sperm donors. Once it creates a sizable database of donor DNA data, the company will be able to begin offering its service to couples and women who are looking for sperm donors. Morriss said she expects that will happen by April of this year.
The company’s mission hits close to home for Morriss, an entrepreneur and founder of the Concire Leadership Institute in Cambridge. Unbeknownst to her, Morriss was a silent carrier for a condition called MCADD deficiency. Unfortunately, so was the sperm donor she and her partner chose five years ago when planning for their first child. Their son, Alex, now lives with the rare and potentially fatal genetic disorder that prevents the body from converting certain fats into energy.
“We’re inviting people to go through a screening process that includes both potential mother and potential donor and looks at what happens when they come together,” she explained.
What it doesn’t do, Morriss and Silver clarified, is provide genetic analysis for individuals. Although the process for using GenePeeks’ services starts out like that of 23andMe’s, for example — customers return a DNA collection kit sent in the mail — it doesn’t return any of that traditional analytic information, like whether a woman is a carrier for a particular disease.
“We’re all carriers for diseases, but that doesn’t actually tell us much about reproductive risk,” Silver said. “It’s the combination of the woman and the man together that causes likelihood of a particular disease in a child. That’s one reason I believe this algorithm is so important. “
