Sequenom, Illumina's ($ILMN) Verinata, Natera and Ariosa Diagnostics all debuted game-changing prenatal blood tests for Down syndrome and other genetic abnormalities in recent months. They generally screen for traces of fetal DNA in the mother's blood, a big advance over more invasive diagnostic procedures such as amniocentesis, which carry some risk of inducing miscarriage. But some experts worry that the new diagnostics aren't always being used the way they should, and need more specific guidelines to avoid marketplace confusion.
The Wall Street Journal reports at length about some of the new issues that have cropped up.
Some, such as the American College of Medical Genetics and Genomics, want the diagnostics tests to be recast as "screenings," with a focus on their ability to predict risk of disease rather than give patients a precise result. Others worry that higher-than-expected reports of inaccurate results could lead to the abortion of healthy fetuses, or at least an avoidance of other tests such as amniocentesis, something that is more invasive but also more precise as to test results.
It's not as if the test makers aren't making those recommendations. The Wall Street Journal notes as much, that the companies recommend a positive test result from their blood diagnostics should be a first step toward more invasive diagnostic follow-up procedures such as amniocentesis. But some observers worry that aggressive marketing of the new tests could confuse both patients and physicians, leading to an avoidance of those crucial next steps.
As the story notes, their concern comes from the rapid adoption of these prenatal tests since the first came online in 2011--less than two years ago. Sequenom ($SQNM), for example, booked 61,000 tests in 2012, and observers expect their use will multiply exponentially until they become standard.
These new tests have drawn worries outside of the U.S. as well. Japan delayed the launch of Sequenom's MaterniT21 test until recently, first making sure that detailed guidelines were in place to prevent misuse. Among the precautions recommended by the Japan Society of Obstetrics and Gynecology: having a certified genetic counselor on staff who would work with pregnant women both before and after the diagnostic test. Opponents have long feared that the lack of proper guidelines could lead to Down syndrome-related discrimination, or parents choosing to abort their pregnancies.
- read the WSJ story (sub. req)