Fetal DNA tests: Will patents work against patients?

Los Angeles Times

Maybe you’ve been reading a lot lately about the development of fetal DNA tests based on a curious fact -- that the blood of a pregnant woman contains tiny bits of DNA of the fetus.

Several groups have recently used this fact to sequence the entire genome of a fetus and pick up the presence of extra chromosomes or even individual gene variants that would render the baby prone to health conditions.

It’s an important development with much promise, health researchers say, because it offers a way to detect genetic abnormalities very early, without the small but real risk of miscarriage that comes with today’s widely used screening technologies: amniocentesis and chorionic villus sampling.

But the promise of this science -- much of it developed with government funds -- could be stymied by the thorny issue of intellectual property rights, argues a group of Stanford scientists in the journal Science Translational Medicine. (And you’ll only get to read the abstract of the article unless you pay, because someone else owns the rights to it.)

Lauren Sayres and coauthors note that lots of patents have been granted for various slices of this technology. And one particular company, San Diego’s Sequenom, is the exclusive licensee of many of them, including a broad one based on work of scientists at the Chinese University of Hong Kong.


Sequenom has developed a test for trisomy 21 (three copies of chromosome No. 21, which causes Down syndrome), among other tests, but has been in litigation with and issued warnings to various other companies, including Ariosa Diagnostics Inc., arguing that they are infringing on its patent license agreements. Ariosa markets the “Harmony Prenatal Test” for trisomy 21.

The authors list all of the U.S. patents, inventors and licensees they’re aware of, and even they say it’s “unclear” which ones might trump which others. We shall see. Still, if Sequenom prevails and becomes a virtual monopoly in this area, would it matter?

The authors argue yes. They cite cost as one reason: Sequenom’s trisomy 21 test goes for $1,900, they say, “likely beyond the reach of most women and particularly the uninsured” -- even if insurance companies pick up the bulk of the tab. And, they add, monopolies can impede improvements: They point to a company, Verinata Health, which claims it has an improved method for detecting trisomy 21. “If Verinata Health or other companies are prevented from developing more accurate tests, patient care may suffer,” they write.

DNA patent fights have a way of dragging on ... and on ... and on. And then there’s the issue of whether genes themselves (versus technologies involving genes) can be patented. Read more about that in this blog post by my colleague Eryn Brown. The case centers on patents for genetic tests that use variants of the BRCA1 and BRCA2 genes to identify women at heightened risk for breast and ovarian cancer.