Sequenom is looking to its deal with Quest Diagnostics and a new noninvasive prenatal test, VisibiliT, which it will launch in Europe for trisomies 21 and 18, to help drive new revenue growth, company officials said this week. The San Diego-based firm’s testing volumes in the third quarter of 2014 declined more than 3 percent compared to the third quarter of 2013 to 46,600 patient samples. MaterniT21 Plus tests remained stable year over year at around 38,500, although they declined by 2,300 tests sequentially. During a conference call discussing Sequenom’s third quarter earnings, CEO Bill Welch also provided an update on the firm’s VisibiliT test, which is geared toward women at average risk for fetal aneuploidy, as well as its patent lawsuits, and its agreement with Quest. Read more.
New Article: Chromosome Abnormalities Detected by Current Prenatal Screening and Noninvasive Prenatal Testing
OBJECTIVE: To estimate how many additional chromosomal abnormalities can be detected by diagnostic testing compared with noninvasive prenatal testing in a high-risk prenatal population.
METHODS: All karyotype results of invasive prenatal testing in singleton pregnancies performed in response to a positive prenatal screen through the California Prenatal Screening Program from April 2009 through December 2012 were examined. Abnormal karyotypes were categorized as to whether the abnormality is detectable by current noninvasive prenatal testing methods.
RESULTS: Of 1,324,607 women who had traditional screening during the study period, 68,990 (5.2%) were screen-positive. Of screen-positive women, 26,059 (37.8%) underwent invasive diagnostic testing and 2,993 had an abnormal result (11.5%). Of these, 2,488 (83.1%) were predicted to be detectable with current noninvasive prenatal testing methods, and 506 (16.9%) were considered not currently detectable. Trisomy 21 accounted for 53.2% of the abnormal results (n=1,592). Common aneuploidies, detectable by noninvasive prenatal testing, comprised a higher percentage of abnormal results in older women (P<.01).
CONCLUSION: For pregnant women with a positive aneuploidy screen who pursued diagnostic testing, 16.9% of chromosome abnormalities are not currently detectable by noninvasive prenatal testing. Undetectable aneuploidies range from relatively mild to those associated with significant disability. This is important information to be considered by patients, health care providers, and screening programs in evaluating the use of traditional screening and invasive prenatal diagnosis compared with noninvasive prenatal testing.
Developments in global non-invasive prenatal testing (NIPT) market
Commercial non-invasive prenatal testing (NIPT) company Sequenom has acquired new global intellectual property from Isis Innovation, the University of Oxford’s technology transfer entity. The transaction, which gives Sequenom ownership of methods for ‘non-invasive prenatal genetic diagnostic testing on paternally inherited fetal nucleic acids derived from maternal plasma or serum’, carried a $14.55 million (over £9m million) price tag. This included $3.2 million in outstanding license payments from Sequenom to Isis for previous exclusive rights to the use of key NIPT intellectual property. Read more.
BGI is granted patent in 16 countries for non-invasive prenatal genetic test technology
The European Patent Office has issued patent number EP2561103B1 for invention to BGI for its independently researched non-invasive prenatal genetic test (NIPT) technology. This technology has been developed by BGI in connection with the provision of its market leading NIPT, the NIFTY® test. The patent is effective in 15 member countries including England, Belgium, Spain, Slovenia, Hungary, Sweden, Turkey, Switzerland, Italy, France, Denmark, Germany, Czech Republic, Poland and Romania.
This patent was granted by the European Patent Office. This is the first patent for non-invasive prenatal genetic testing technology approved by the Europe Patent Office to a mainland Chinese registered company.
Meanwhile, the State Intellectual Property Office of China also issued a Notice of Grant of Patent Right to BGI, meaning that this patent has been granted domestically as well as internationally. Read more.
New Article: Personalized Genomic Medicine and Prenatal Genetic Testing
Just 30 years ago, Merkatz et al1 reported an association between low maternal serum alpha-fetoprotein and trisomy 18, proving in principal that information about a fetus could be learned prenatally. Today, genetic testing directly on fetal cells can provide a complete karyotype, and use of chromosomal microarray analysis (CMA) can generate information regarding more than 80 syndromes caused by microdeletions and microduplications.2 Noninvasive prenatal testing on cell-free fetal DNA in maternal serum is also being integrated into prenatal care, providing, as early as the first trimester, highly sensitive screening for the common trisomies, sex chromosome aneuploidies, and syndromes such as velocardiofacial syndrome (22q11 deletion).3 Read more.
More Women Skip Some Prenatal Tests After Learning About Risks
For decades, OB-GYNs have offered prenatal tests to expectant moms to uncover potential issues, including Down syndrome, before they give birth. However, sometests, such as amniocentesis and chorionic villus sampling, carry health risks, including miscarriage. For some women, the risks can be greater than the potential benefits from information they would gain.
Evidence now suggests that women who are well-informed about the pros and cons are more likely to decline testing, even when the tests are free, indicating that the average mother-to-be might not have all the facts.
In a study published in JAMA, the Journal of the American Medical Association, researchers worked with 710 women at medical centers around San Francisco. Half of them received standard care, including a focus on testing for women over age 35. The others were offered a computerized guide to prenatal testing and presented with the choice of having prenatal tests free of charge.
Legal blow to Sequenom as global NIPT market expands
Claims that a key US patent no. 6,258,540 held by Sequenom, the molecular diagnostic testing company that began the now the increasingly contested non-invasive prenatal testing (NIPT) commercial market, have been largely upheld.
The patent, which underpins Sequenom’s MaterniT21 Plus test, wasinvalidated last year by the District Court for the Northern District of California as a ruling against Sequenom, who had been seeking a summary judgement against rival company Ariosa for patent infringement. This decision, currently on appeal with the Court of Appeals for the Federal Circuit, stated that the patent was ineligible on the basis that it pertains to a naturally occurring phenomenon (the presence of cell-free fetal DNA in the maternal bloodstream) despite the fact that it claims a method of testing for paternally inherited nucleic acids of fetal origin and various applications. Read more.
Pa. law mandates giving parents information on Down syndrome
Pennsylvania has joined a small but growing number of states requiring that a Down syndrome diagnosis be accompanied by useful, accurate information about the genetic disorder.
The Down Syndrome Prenatal and Postnatal Education Act, effective Oct. 1, mandates that medical practitioners give expectant or new parents “informational publications,” to be provided online by the state health department.
The Down syndrome advocates behind such state laws — five in the last two years, including in Delaware and Maryland — promote them as a way to give unbiased information to pregnant women at a momentous, stressful juncture.
“This isn’t a partisan law. It’s not a pro-choice or pro-life law. It’s a pro-information law,” Kurt Kondrich, 51, of Upper St. Clair, said of the Pennsylvania bill he helped craft. Read more…
LabCorp Announces the Availability of InformaSeqSM Non-Invasive Prenatal Test
Laboratory Corporation of America® Holdings (LabCorp®) (NYSE: LH) announced today the availability of the informaSeq Prenatal Test.
The informaSeq Prenatal Test is an advanced, non-invasive, next-generation prenatal screening assay that can assess risk for multiple fetal chromosomal aneuploidies, or abnormalities in the number of chromosomes, from a single maternal blood draw. There are testing options for several additional common sex-related aneuploidies. The test is offered through Integrated Genetics, part of the LabCorp Specialty Testing Group of laboratories that offer advanced esoteric and genomic testing. Read more…
Sequenom Laboratories Expands International Noninvasive Prenatal Testing Services To Broader Population With VisibiliT™ Test
Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that its wholly owned subsidiary, Sequenom Laboratories, will soon launch the VisibiliT™ laboratory-developed test in international markets. The VisibiliT test utilizes maternal age, fetal fraction and the relative amount of chromosomal material for chromosomes 21 and 18 to generate a highly accurate, personalized risk score. The VisibiliT test is for pregnant women who want information about common fetal trisomies (Down syndrome and Edwards syndrome), have a single gestation pregnancy, and whose pregnancies are considered to be at average risk. The test can also report fetal gender. With the VisibiliT test, Sequenom Laboratories fulfills its goal to expand its noninvasive prenatal testing (NIPT) menu with the development of a low-cost test by year-end to facilitate international access.
“This is an important development because it makes an excellent test much more affordable and accessible to a wider spectrum of pregnant women throughout the world,” said Professor Kypros Nicolaides, M.D., director of the Fetal Medicine Foundation and the Harris Birthright Research Centre for Fetal Medicine at King’s College Hospital in London. Read more.
Prenatal Information Research Consortium 