Non-invasive prenatal screening (NIPS) is currently offered in over 80 countries, covering over 80 million annual births, with an estimated volume of over one million screening tests performed annually. First offered in 2011, there has been rapid adoption of these genomic tests in the marketplace.
A personal story of an expectant father intersects with the complex problem of testing specificity and sensitivity
Sometimes a single remark can effectively summarize a very complex problem. While the November 12, 2015 FDA Public Workshop on “Standard Based Approach to Analytical Performance Evaluation of Next Generation Sequencing In Vitro Diagnostic Tests” focused primarily on tests that look for germline and somatic variants, a comment made by Jared Maguire – Counsyl’s Director of Computational Biology – about 1 hour 14 minutes into the workshop explained a lot about the current state of non-invasive prenatal testing (NIPT) and what patients, physicians and insurers are experiencing; more on that later.
Interview with Dr. Seth Harkins, Principal R&D Scientist
A brief review of fetal aneuploidy testing
Fetal aneuploidy affects about 9 in 1,000 live births. The definition of aneuploidy is an abnormal number of chromosomes ; with 23 pairs of chromosomes in humans, 46 is the normal number, while aneuploidy individuals will have 45 or 47. In trisomy, there is one additional chromosome, typically chr21, 18 or 13 (it is not a coincidence that these are the smallest chromosomes in humans). Historically, the invasive methods amniocentesis and chorionic villus sampling (CVS) were used with risk to the pregnancy, with about a 1% chance of miscarriage due to the procedure. Non-invasive methods based upon ultrasound and serum biomarkers are useful screening tests, but were of limited reliability as they were indirect measures of chromosomal abnormalities1.Photograph courtesy of Flickr user Can H.
The 2015 Association for Molecular Pathology (Austin TX) posters about Reference material stabilization technology, recombinant virus, fetal trisomy patient-like material, and somatic tumor mutation profiling.
The Association for Molecular Pathology (AMP) was founded 'to provide structure and leadership to the emerging field of molecular diagnostics', and publishes the Journal of Molecular Diagnostics.
With the theme "Realizing the Promise of Precision Medicine" in Austin, Texas
The annual meeting of the Association for Molecular Pathology will be held this year in Austin Texas from November 4-7, 2015. Laboratory Directors, Medical Directors and Pathologists worldwide will be hearing about the latest in clinical laboratory practices as well as the latest translational research being applied in the clinical setting.