Sequenom May Spot Single-Gene Birth Defects, like Cystic Fibrosis, in a Sample of Mother’s Blood

11/24/08Follow @xconomy

Sequenom has its sights on developing more than just the first non-invasive prenatal test for Down syndrome. Today, scientists affiliated with the San Diego-based biotech company are reporting how their methods of analyzing genes in a sample of blood from the mother can be used to detect whether a developing fetus has a single-gene defect, like cystic fibrosis, or inherited blood diseases like beta-thalassemia and sickle-cell anemia.

Researchers led by Dennis Lo, a professor at the Chinese University of Hong Kong, have shown that by using digital PCR technology, they can count abnormal gene sequences in samples of a mother’s blood that can determine whether an unborn fetus has an inherited disease. The findings are being reported online today in the Proceedings of the National Academy of Sciences.

The findings could potentially eliminate the need for more invasive tests used to spot such defects, like amniocentesis or CVS, which raise the risk of miscarriage. The technology developed by Lo and his colleagues is licensed exclusively to Sequenom (NASDAQ: SQNM), and is also used to screen a mother’s blood sample for evidence of Down syndrome. The test for Down’s was found in September to be 100 percent accurate in a study of 400 women, which sent Sequenom shares soaring more than 35 percent. The market for prenatal chromosomal disorders like Down’s could be worth $3 billion to $5 billion worldwide, and the business opportunity could be even larger when applied to tiny variations in genetic code that cause cystic fibrosis, heart ailments, and other birth defects, Sequenom CEO Harry Stylli said earlier this month at an investor conference.

“Sequenom is committed to developing the next-generation of prenatal diagnostic tools that will provide physicians with the capabilities they need to noninvasively diagnose genetic disorders early in a woman’s pregnancy,” Stylli said in a statement. “Dr. Lo and his team have made another important breakthrough in prenatal diagnostics with these findings. These unique, noninvasive digital technologies have the potential to dramatically impact the prenatal diagnostic market.”

Through using the “digital counting” method that looked for single-gene abnormalities in maternal blood, the scientists were able to diagnose beta-thalassemia and hemoglobin E disease—types of anemia that affect millions of people worldwide. About 10,000 different human diseases are thought to be caused by single-gene defects, Sequenom said.

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  • olga vaughn

    Being the mother of a child with cystic fibrosis I could see the benefit of prenatal screening, it would have helped prepare me to take care of his condition immediately and not a year later when he would be diagnosed.

    How much more beneficial would that information be if there would be fetal care or treatment. Sadly that is not the case.
    Instead it is creating anxiety for prostpective parents and new choices, pressures and “cultural pressures” to not carry the baby full term

    Unfortunately at this point the information is unuseable and detrimental.

    It is with great remorse that the number of full term pregnancies of babies with cystic fibrosis who are diagnosed in utero are terminated at a rate of 90%.