Non-Invasive Prenatal Diagnosis – AND Shameless Self-Promotion

New methods are being developed to allow testing of fetal DNA based on a simple blood draw from the pregnant woman’s blood. We have been able to do prenatal genetic diagnosis for about 40 years, but less than 2 percent of American pregnancies undergo genetic testing each year. By avoiding the invasive, expensive, annoying, and somewhat risky procedures of amniocentesis or chorionic villus sampling, this non-invasive prenatal diagnosis (NIPD) should greatly expand the number of fetuses that are tested – and should reduce the number of children born with various genetic conditions.

The Center for Law and the Biosciences, in conjunction with Stanford’s Center for Integrating Research in Genomics and Ethics (CIRGE) held a conference on NIPD in May 2010. The leading researchers in this field are Steve Quake at Stanford and Dennis Lo at the Chinese University of Hong Kong. Last month, Lo’s group published in BMJ the results of a successful 750 person clinical trial of NIPD for detecting aneuploidies. Several companies are seeking to commercialize this technology.

Also last month, I published a commentary in Nature on NIPD: “Get Ready for the Flood of Fetal Gene Screening.” Jaime King and I had earlier published many of the same thoughts in the AAAS’s Professional Ethics Report; Audrey Chapman and Peter Benn had already published one of the very first U.S. discussions in JAMA.

I believe this will be a very big, and very controversial, deal. I think it ultimately will be used for diagnosis (and not just screening) of aneuploidies and, in any one test, scores or hundreds of Mendelian diseases or traits. Our societies will need to decide

• whether to allow it
• whether to regulate its uses
• whether to pay for it
• how to assure its safe and effective use

This will raise concerns about abortion, about disability rights, about eugenics (state-sponsored or parental), and about the FDA’s regulation of genetic testing, among other things. And I think clinical use will come within one to five years. It is already being used clinically in Europe to detect Rh+ fetuses being carried by Rh- pregnant women; the aneuploidy uses are likely to be available in the US very soon with the Mendelian traits following shortly after.

But no one seems to be paying any attention. This post is an effort to get some conversation started. What do you think about uses of NIPD?


The May 2010 conference

The Lo group’s January 2011 BMJ paper

Greely January 2011 Nature commentary

Greely/King Professional Ethics Report article

Benn and Chapman JAMA article