Tag Archives: BRCA1

BRCA1: A Race Still Not Finished

All the talk over the past couple of days about the patentability of the BRCA1 gene got me thinking about the heady, headline-making days 16 years ago when the story began, a story of a multi-year race to claim a gene.

It was September 1994 that researchers from the University of Utah and Myriad Genetics announced that they had cloned and sequenced the BRCA1 gene. Their paper appeared in the Oct. 7, 1994, issue of Science, but according to an account in the Sept. 15 issue of The New York Times by Natalie Angier, the embargo had broken via a television news report (a quaint footnote of its own, a time when news still broke on TV).

Angier’s write up describes the BRCA1 gene as a “ferociously coveted” “genetic trophy,” and the culmination of an “international, race.” An editorial on the news from the October 1994 issue of Nature Genetics called it “the glittering prize.”

Angier quoted the leader of the 45-member Utah/Myriad research team, geneticist Dr. Mark Skolnick, as saying that it felt “very, very good” to have captured the gene. The Times’ article also cited the gracious loser of the race, Mary-Claire King. Ph.D., then at the University of California at Berkeley, now at the University of Washington, who had these kind words for her rivals: ” This is beautiful work…these guys deserve their success.”

image courtesy National Library of Medicine

Dr. King began pursuing breast cancer genes in the late 1970s, had narrowed down the search to human chromosome 17 in 1990, and had a key role in coining the BRCA designation a year later. (She said it was in part inspired by Paul Broca, a 19th century French pathologist who pioneered recognition of breast cancer pedigrees.)

I recall seeing her walk to the podium to give a talk at the annual meeting of the American Society of Human Genetics in Montreal in October 1994, just after the Myraid paper came out. She received a standing ovation from the large, packed audience, and began by saying that she was okay with the outcome, with the fact that the guys from Utah had beaten her to the gene.

Now, 16 years later, the news is that the prize may not have been so commercially glittering after all.

—Mitchel Zoler (on Twitter @mitchelzoler)

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Filed under IMNG, Internal Medicine, Medical Genetics, Oncology, Practice Trends, Primary care

Whose Genes Are They?

Image courtesy of NCI

Yesterday a federal court ruled that the breast/ovarian cancer genes BRCA1 and BRCA2 are not patentable, invalidating seven patents for the only diagnostic test for mutations of these genes (BRACAnalysis). [See the New York Times story.]

The ruling has been long awaited and the implications are far reaching. At the heart of the matter is the question of whether patents for the identification of specific gene sequences stifles or promotes genetic research and development.

The case pitted the American Civil Liberties Union and the Public Patent Foundation (a not-for-profit organization affiliated with Benjamin N. Cardozo School of Law in New York) and individual cancer patients against Myriad Genetics and the University of Utah Research Foundation, which holds the patents for these gene sequences.

The ACLU—with amici curiae from the American Medical Association, the American Society of Human Genetics, the American College of Obstetricians and Gynecologists, the American College of Embryology, and the Medical Society of the State of New York—argued that genes cannot be patented and that such patents  restrict both scientific research and patients’ access to medical care. In particular, the plaintiffs argued that the patents constituted a monopoly and prevented women from independently confirming their test results.

Image courtesy of NIH

Myriad argued that without the ability to patent genetic sequences, there is no incentive to genetic investigation and the development of new diagnostic tests.  In the promised age of personalized medicine, such research and development represents not only improved patient care but also a burgeoning industry, in which millions of dollars are at stake. 

This story is far from over yet.  The company plans to appeal the ruling, in the meantime leaving other existing gene-based patents in limbo.

—Kerri Wachter ( @knwachter on Twitter)
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Filed under Genomic medicine, Health Policy, IMNG, Medical Genetics, Obstetrics and Gynecology, Oncology, Polls