College of American Pathologists
Printable Version

  A case of limited clinical access


CAP Today




February 2010
Feature Story

One reference laboratory’s experience with an inherited condition called long QT syndrome (LQTS) that causes sudden cardiac death, particularly in young people, bears forcefully on two assertions put forward by those who favor gene patenting. First, it refutes the notion that patent protection is necessary to ensure that genetic tests will be available. Second, it shows that, at least in this one instance, exclusive licensing made testing unavailable for a year and a half.

“In late 2000, we decided to offer testing for a number of genes that cause long QT syndrome,” says Sherri J. Bale, PhD, FACMG, co-president and clinical director of GeneDx, a national reference laboratory that specializes in rare genetic disorders. “We were approached several times by people saying, ‘You are the rare disorder guys; why don’t you offer this test?’ So we did. Then we got a cease-and-desist letter.”

A company named DNA Sciences held an exclusive license from the University of Utah for genes that caused LQTS. “However,” Dr. Bale continues, “DNA Sciences was not actively offering testing for those genes. So as soon as we stopped there was no genetic testing available for that disorder.” GeneDx’s offer to pay a licensing fee was unsuccessful. Six months later DNA Sciences was acquired by Genaissance Pharma. “At that point,” Dr. Bale says, “we went to Genaissance and asked them to license the test to us, but they said they were going to offer it themselves. We said, ‘How about if we do it until you get set up?’ They said ‘No.’”

Genaissance launched its Familion test for LQTS in May 2004, and Genaissance was acquired by PGxHealth in 2005. From November 2002 until the Familion test came to market in May 2004, there was no test available for long QT syndrome, Dr. Bale says. After that Genaissance, and then PGxHealth, was the sole provider of LQTS testing.

In mid-2009 GeneDx launched its own test for LQTS on a different platform. “We are certainly seeing uptake in the cardiology community,” Dr. Bale says. “We give pretty deep discounts to our long-standing institutional clients, and we have a very patient-friendly insurance policy. Cross-licensing is one way to get around patent thickets like this.”

“This case shows that gene patents can be used in ways that limit clinical access,” says Robert Cook-Deegan, MD, director of Duke University’s Center for Genome Ethics, Law and Policy. “Ironically, patent rights eventually broke the monopoly, but for 18 months, the effect of exclusive licensing was to eliminate clinical testing that had been available so some startups could pursue a business strategy and get into the market.”

—William Check, PhD


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