Connecticut Lab Developing $200 BRCA Test

Just a few years ago, it could cost upward of $4,000 to undergo a molecular test for the BRCA gene.

The prices began to drop following a 2013 U.S. Supreme Court decision that prohibited the patenting of a single gene, breaking a monopoly on the test. Other labs began offering the assay, but the price tag was still often more than $1,000.

Now, a pathologist has claimed in a new academic study that BRCA testing could be performed for as little as $200 as part of routine pap smears and HPV testing that is given to women in the U.S. tens of millions of times a year. This particular test would focus only on three “founder” genetic variants that point to an increased cancer risk. The testing would mostly extend the current capabilities of pap smear and HPV tests.

According to a study recently published in the International Journal of Molecular Sciences, “with a robust PCR mixture, crude proteinase K digestate of the fixed cervicovaginal cells in the ... pap cytology specimens can be used as the sample for target DNA amplification without pre-PCR DNA extraction, purification and quantitation.” Using a simplified template for such a BRCA test, the cost can be brought down to $200, the study claimed.

As a result, “selective patients in a high-risk population can be tested and each provided with a set of DNA sequencing electropherograms to document the absence or presence of these founder mutations in her genome to help assess inherited susceptibility to breast and ovarian cancer.”

The study was co-authored by Sin Hang Lee, M.D., director of the Connecticut-based Milford Molecular Diagnostics Laboratory and undertaken in collaboration with researchers in China.

Milford Molecular specializes in molecular-based tests for Lyme disease, a particular scourge in the Eastern U.S. The company said it was in the process for applying for a CLIA permit to begin marketing a Pap smear/HPV-based BRCA test.

A company spokesperson did not respond to a request seeking comment.

Takeaway: A small laboratory in Connecticut may have developed a low-cost test for BRCA genetic testing.