Ikonisys Inc., of New Haven, Connecticut, and Sequenom Inc. of San Diego, California, have each announced that that they are evaluating new testing processes for the early prenatal detection of Down syndrome. Both companies are seeking to assess the accuracy of measuring circulating fetal genetic material in the mother’s bloodstream to detect Down syndrome during the first three months of pregnancy. Sequenom is publicly traded and Ikonisys is privately held.

The race for an accurate first-trimester blood test has become highly competitive, experts say, and promises to be very lucrative for the company that crosses the finish line first. In materials prepared for investors, Sequenom estimates that the worldwide market for prenatal diagnosis of Down syndrome screening exceeds $3 billion. The company estimates that more than 2.7 million American women spend in excess of a billion dollars to undergo prenatal screening and testing for Down syndrome each year.

In announcing the Ikonisys plan, the company said a clinical trial led by Prof. Kypros Nicolaides of King’s College Hospital in London is already underway. Sequenom said its plan to evaluate an early testing method has received the approval of authorities at San Diego-based Sharp HealthCare, clearing the way for a “screening study” to assess the company’s detection technology.

Both companies say they aim to provide pregnant women with fast and accurate solutions that eliminate false positives and thus reduce the need for followup invasive testing like amniocentesis or chorionic villus sampling (CVS). Both amnio and CVS carry the risk of miscarriage.

The announcements come at a time of heightened public controversy over prenatal testing for Down syndrome. Advocacy groups have stepped up efforts to educate doctors, pregnant women and their partners about the condition since the American College of Obstetricians and Gynecologists recommended last year that all pregnant women regardless of age should be offered both prenatal screening and invasive testing for the condition.

The National Down Syndrome Society and National Down Syndrome Congress cite research saying that doctors have not been providing accurate, up-to-date information to prospective parents, and that they also paint an unduly negative picture about life with the condition. Advocacy groups say educational, social and medical advancements over the last generation have brought improvements in quality of life that should be acknowledged and discussed within the context of prenatal diagnosis.

Currently pending in the U.S. Senate is Senate bill 1810, sponsored by Sens. Edward M. Kennedy (D-Mass.) and Sam Brownback (R-Kan.) that would provide funding for efforts to increase access to accurate information and referrals for parents and prospective parents.

Among other companies pursuing first-trimester blood tests for Down syndrome are Ravgen, of Columbia, Maryland, and Biocept of San Diego, CA. See earlier post here.

This entry was posted on Wednesday, February 13th, 2008 at 5:21 pm and is filed under Down syndrome, NOT2BEMISSED, abortion, advocacy, business, law, prenatal diagnosis. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.  Email This Post