Recombine is part of a new wave of startups that marry computer science with the wealth of data that is emerging out of ultra-low-cost sequencing.
Carrier screening tests help parents understand whether they’re at risk of passing on genetic disorders to their children before they conceive. It’s considered the low-hanging fruit in this field. There is already a giant competitor in this space in Silicon Valley’s Counsyl, which is testing 4 percent of U.S. births every year and is on a run-rate of at least $80 million per year.
But Recombine is hoping to take this a step further by looking for more complex genetic disorders. With typical carrier screening, you’re looking for a condition that could be passed on with a match of two recessive genes from the mother and father.
“We want to focus on questions that aren’t about simple genetics or single-gene disorders. We want to understand how 60 genes might interact,” said CEO Alexander Bisignano.
Recombine’s tests, which cost $345, look for 180 recessive genetic disorders including cystic fibrosis and spinal muscular atrophy. They’re currently testing 8,000 sets of patients per year.
While they use Illumina sequencers (like everyone else), the secret sauce will be in Recombine’s software. They also elected not to reinvent the wet lab, unlike Counsyl, which refashioned car-making robots to handle lab trays.
That’s because wet lab work is becoming increasingly automated. (See the startup Transcriptic, which has a business model of handling wet lab research on behalf of other clients.)
Bisignano, who has a degree in molecular biology from Princeton, previously was in the finance world at Credit Suisse. His co-founder, Dr. Santiago Munne, developed the first pre-implantation genetic diagnosis tests in the 1990s.