Commercial landscape of noninvasive prenatal testing in the United States

Abstract

Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times, and reimbursement of recently launched commercial tests in the United States from the trade press, news articles, and scientific, legal, and business publications. We also describe the patenting and licensing landscape of technologies underlying these tests and ongoing patent litigation in the United States. Finally, we discuss how IP issues may affect clinical translation of NIPT and their potential implications for stakeholders. Fetal medicine professionals (clinicians and researchers), genetic counselors, insurers, regulators, test developers, and patients may be able to use this information to make informed decisions about clinical implementation of current and emerging noninvasive prenatal tests.

Figure 1. Patent landscape of cffDNA-based noninvasive prenatal testing in the United States

We first searched for United States patents and applications that contained at least one claim relevant to NIPT. For example, we constructed search algorithms that searched the United States Patent and Trademark Office (USPTO) database for all patents that contained the key words ”noninvasive OR non-invasive AND (prenatal OR fetal)“ in their claims. Additionally, we performed searches using the names of inventors (e.g. Dennis Lo, Stephen Quake) or the names of various institutions and companies (e.g. Sequenom, Stanford University), chosen from the scientific literature, trade press, and news articles, to identify patents and applications related to NIPT. We next read all the claims of issued patents and included only those patents with at least one claim directly covering uses of cffDNA obtained from a maternal sample (blood or urine) for genetic testing. All patent searches were performed in the Delphion database. Patent data are current as of 15 December 2012. Additional information about these patents is available in Table 2