When a couple finds out they’re at risk of having a child with a serious, debilitating genetic disease, it’s usually when a woman is already several months pregnant.
“It’s a difficult position for a woman to be in,” said Shivani Nazareth, a genetic counselor and director of women’s health at Bay Area startup Counsyl. “They should be planning baby showers at that point in their pregnancy.”
Instead, she says, it can be a scramble to find a specialist who can help an expecting couple navigate what it means to have a child with a serious, inherited disorder.
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Counsyl is taking aim at this market — bringing carrier screening to the mainstream, to offset the stress of finding out about genetic risks mid-pregnancy, or after a baby’s born.
Currently, the practice of screening a couple for genetic disease tends to be offered to those preparing for infertility treatments. But Counsyl wants to spread the practice to any woman preparing to have a child — rolling out its “family prep” tests that screen parents-to-be for about 100 genetic diseases. The idea is to offer the test to women during their standard health checkup and, if she’s a carrier, extend that test to her partner.
“When you look at genetic diseases collectively, they’re a lot more common,” Nazareth said. “We find that when people do screening, a little over 3 percent are at risk for a condition on our panel.”
That’s why the company’s advocating that more parents-to-be should be armed with the right information. That way, they can consider using, say, an egg or sperm donor to reduce the chance of a baby having a serious genetic disorder.
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“Carrier screening won’t capture every rare disease, but it does provide some level of assurance,” Nazareth said.
Typically, those who get screened are either prepping for IVF treatment or belong to specific ethnicities, uch as Ashkenazi Jews, who are prone to certain genetic disease. And there’s long been options to screen mothers, at their request, for diseases like Tay-Sachs and cystic fibrosis.
But as next-gen sequencing costs continue to drop, it’s a little more feasible to consider this as a widespread pregnancy planning tool. Nazareth recently wrote a whitepaper on the topic.
The self-paid price of carrier screening through Counsyl is $349, though several insurers will cover this testing, Nazareth said. Patients need a prescription from their physician to get the test, however.
The company’s raised $102 million in equity, and has screened some 450,000 patients for a variety of genetic diseases – from such carrier screening to determining a person’s risk for cancer. It also offers “informed pregnancy” screening for women to learn if their child has chromosomal disorders like Down syndrome. The company offers on-demand genetic counseling to help patients understand what their next steps are.
“So much of pregnancy is unknown – you can’t control everything,” Nazareth said. “But for those who want the information, it’s so much better to have it before you conceive rather than at the first prenatal visit.”
Photo: BigStock Photo
