It did not take us long to welcome the arrival of what many have expected from Sequenom (SQNM) and many have doubted. The expected has, indeed, begun to show, and the doubt that should disappear will stay as long as the skeptics of Wall street are ideologists whose ideology is cynicism. Nevertheless Sequenom has, indeed, launched its first laboratory test, SensiGene™ Cystic Fibrosis (CF) Carrier Screening test.
Carrier screening tests rule in or out an increased risk of having a baby with a genetic disorders. It is important to recognize the fact that healthy individuals with no family history of a genetic diseases and have healthy children, may still be carriers of a genetic disorder like cystic fibrosis. Children would suffer from cystic fibrosis if they have two mutations in the gene that causes CF, inheriting one mutation from the mother and the other from the father.
For Sequenom, the commercial launch of this test is an important milestone, as it marks the first test launched by its own lab, the Sequenom Center for Molecular Medicine. Harry Stylli, PhD, Sequenom's president and chief executive officer said, "This screening tool offers an outstanding testing option for patients and their care providers. We are developing and plan to offer a menu of superior women's health related molecular tests, including proprietary, cell free fetal nucleic acid based tests such as fetal sex determination, fetal RHD genotyping, trisomy 21 and others."
So, the firm is confident that it will fulfill its promises, bringing a battery of cell free fetal nucleic acid based tests to the medical practice.
The Market: Approximately 1 in 30 Americans are carriers of a cystic fibrosis gene mutation, making it one of the most common genetic disorders in the United States. According to the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG), cystic fibrosis carrier screening should be offered to all Caucasian couples who are expecting a baby or are considering pregnancy, and further, the test should be made available to all patients regardless of ethnicity. About 1.1 million cystic fibrosis carrier screening tests are performed each year in the U.S. With an average reimbursement rate of $200-$400 per test; the U.S. market is estimated to be in excess of $300 million per year.
If the tests for cystic fibrosis already exist, why the enthusiasm for Sequenom Test?
SensiGene™ test offers superior detection rates and broader ethnic coverage than the standard ACMG 23 recommended mutations panel. More important is that in the world we live in now, assigning a single ethnicity to an individual has become difficult, if not impossible. Lee P. Shulman MD, Professor in Obstetrics and Gynecology and Chief of the Division of Reproductive Medicine at the Feinberg School of Medicine at Northwestern University explains this fact stating, "As the world's population becomes more of a melting pot in terms of ethnicity and diversity, a more comprehensive test like the SensiGene Cystic Fibrosis Carrier Screening test is essential in the world of genetic testing.”
Indeed, the expanded CF panels can provide increased sensitivity for CF carrier screening for many individuals. It is a recognized fact that 1 in 17 CF carriers may be missed using the standard ACMG 23 CF carrier screening panel.
The test employs Sequenom's proprietary MassARRAY® system, which allows direct and label-free analysis of nucleic acids. This test is available exclusively through the Sequenom Center for Molecular Medicine, a next-generation CLIA (Clinical Laboratory Improvement Amendments, 1988) molecular diagnostic laboratory and a wholly-owned subsidiary of Sequenom, Inc.
Disclosure: Long SQNM