Sequenom CEO Harry Stylli doesn’t put much faith in the volatile stock market. It’s a ‘very fickle’ friend, he says. But analysts say his company is the next Google of prenatal diagnostics. | Photo by Michael S. Domine

During the worst financial crisis since the Great Depression, San Diego-based Sequenom watched as its stock shot up more than 100 percent last year to stake a claim as the region’s top performer.

CEO Harry Stylli, who came to America from England in the early 1990s to help jump-start Aurora Biosciences, which later became Vertex Pharmaceuticals, said he doesn’t put his faith in the volatile market, however.

“The stock market can love us, hate us, find reasons to short us, invent reasons to short us, invent reasons to love us,” he said. “They’re very fickle friends.”

Instead, he said the fast-growing, 250-person biotech aims to create value by appealing to medical practitioners in need of an alternative to invasive prenatal tests, which come with risk of miscarriage.

Its first-generation Down syndrome screening test, which fishes for RNA shed by the fetus in a woman’s bloodstream, ultimately aims to change the way medical practitioners test for chromosomal abnormalities in unborn babies.

“I believe our tests are going to be practice-changing within the standard of care within the next two or three years,” Stylli said.

Currently, maternal-fetal specialists rely on invasive procedures, such as amniocentesis, in which a small amount of amniotic fluid is extracted, and chorionic villus sampling, which removes a small piece of placental tissue. Sequenom’s test relies on a 10 millimeter blood draw from pregnant women, no bigger than the amount of blood required for a standard donation.

A few weeks ago, the company said its SEQureDx test could determine with 96.6 percent accuracy the chances a newborn child would be born with Down syndrome. It studied 858 women.

“The unmatched accuracy and specificity seen to date for Sequenom’s SEQureDx test exceeded most expectations,” wrote Elemer Piros, a senior biotechnology analyst with Rodman & Renshaw, in an investor report.

Independent Tests

Before the company can convince medical practitioners to switch over, however, it will rely on independent tests involving 10,000 women at risk for giving birth to a baby with Down syndrome. Stylli said the company aims to publish those results in a peer-reviewed scientific journal by the end of the year.

One major limitation of its first-generation test was its ability to detect Down syndrome in certain ethnic populations such as Asians. About 10 percent of the samples in its most recent 459-patient study turned up inconclusive. Its second-generation test, which relies on DNA, is intended to change that. Besides Down syndrome, the new test also checks for Edwards syndrome, which has a very low survival rate and can cause heart defects, Patau syndrome, which can result in a whole host of physical abnormalities, and gender.