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To Help Physicians and Patients, Medical Laboratories with BRCA Breast Cancer Tests Are Posting Mutation Data into ClinVar’s BRCA Database

Innovative use of crowdsourcing allows pathologists and genetic scientists to create a sizeable database of BRCA mutations that is accessible to clinicians and patients

There’s a new development in the longstanding battle over proprietary healthcare data versus public sharing of such information. Pathologists and clinical laboratory managers will be interested to learn that, when it comes to genetic testing of the BRCA mutation involved in breast cancer, a public data base of mutations is growing so rapidly that it may become the world’s largest repository of such information.

It was last year when the Supreme Court ruled in the gene patent case of Association of Molecular Pathology versus Myriad Genetics that human genes were not patentable. Following that decision, some financial analysts stated that Myriad Genetics, Inc. (NASDAQ:MYGN) retained a competitive advantage over other medical laboratories due to its huge database of mutations in the BRCA genes. (See Dark Daily, “Supreme Court Strikes down Myriad Gene Patents in Unanimous Vote; Decision Is Expected to Benefit Clinical Pathology Laboratories,”  July 1, 2013.)

Breast Cancer Patients are Building a Freely Accessible BRCA DataBase

That’s soon to change, however, thanks to a collaboration that includes the University of California-San Francisco; the biotech company Invitae Corporation; and the Genetic Alliance, a global nonprofit health advocacy group with 1,200 member organizations. This collaboration launched “Free the Data“ in 2013 to build ClinVar’s genetic information for BRCA genes.

ClinVar is a freely accessible, public genetic database maintained by the National Center for Biotechnology Information, which operates under the National Institutes of Health.

Free the Data Wants to Build a Publicly Accessible BRCA Database

Free the Data is a grassroots initiative. It aims to engage physicians and patients with the goal of building ClinVar’s BRCA database. Breast cancer patients are encouraged to upload their BRACAnalysis reports and to take an online survey, which asks questions, such as age, lifestyle factors, family medical history, if patient has ovarian or breast cancer, and so forth, noted a Slate.com blog.

The website provides privacy settings that allow patients to choose how much information they want to share. This information is entered into the ClinVar database to help clinicians diagnose patients and develop treatment plans. Patients and their family members can access information in the database to better understand what their mutation means. Researchers also use the site to match patients with clinical trials.

ClinVar Building Nation’s Most Robust, Consolidated BRCA Resource

What pathologists involved in genetic testing will find significant is how quickly ClinVar’s BCRA database has grown over the last year. It currently has about one-third as many entries as Myriad’s BRCA archive and is expected to soon surpass it, noted a report published by Nature.com.

“The thought is that the rest of the world has roughly the same amount of data as Myriad—and if we put it all together and make a concerted effort to try to use it, then we can be on equal footing,” stated David E. Goldgar, Ph.D., a genetic epidemiologist at the University of Utah’s Huntsman Cancer Institute in Salt Lake City. He was quoted by Nature.com.

Nature.com reported last month that “ClinVar now holds information on 5,752 BRCA variants, deposited by Sharing Clinical Reports, Myriad competitors, and academic labs, compared with Myriad’s 16,000.”

Building a More Robust Source of BRCA Genetic Mutations

“My guess is that within a year’s time, we would have a more robust data source for BRCA1 and BRCA2 than Myriad has by itself today,” said Geneticist Heidi Rehm, Ph.D., FACMG, Director of the Laboratory for Molecular Medicine at Partners Healthcare, a nonprofit organization that is participating in ClinVar’s BRCA database effort.

Geneticist Heidi Rehm (pictured above), Director of the Laboratory for Molecular Medicine at Partners Healthcare, predicts that ClinVar’s BRCA database information will surpass Myriad’s database of BRCA mutations within a year. Breast cancer patients are boosting BRCA information on ClinVar, a database of BRCA mutations that is accessible by clinicians and patients. ClinVar is maintained by the National Center for Biotechnology Information. Breast cancer patients are invited to upload their BRCA test reports on the Free the Data website. Myriad’s BRCA database has enabled the company to maintain a competitive advantage over other BRCA testing companies. (Photo copyright Partners Healthcare.)

Geneticist Heidi Rehm (pictured above), Director of the Laboratory for Molecular Medicine at Partners Healthcare, predicts that ClinVar’s BRCA database information will surpass Myriad’s database of BRCA mutations within a year. Breast cancer patients are boosting BRCA information on ClinVar, a database of BRCA mutations that is accessible by clinicians and patients. ClinVar is maintained by the National Center for Biotechnology Information. Breast cancer patients are invited to upload their BRCA test reports on the Free the Data website. Myriad’s BRCA database has enabled the company to maintain a competitive advantage over other BRCA testing companies. (Photo copyright Partners Healthcare.)

Noting that his company has spent $500 million developing its diagnostic tests and database for BRCA genes, Myriad company spokesperson Ronald Rogers contended that public databases are unreliable, expensive, and vulnerable to funding cuts that compromise their upkeep. “We have the highest-quality database in the world,” he claimed. “And that’s important because when the patient is given a result, they’re going to make a medical management decision based on that information.”

More Gene Mutation Data Is Better

When it comes to medical reference databases, “size does matter.” BRCA-mutation testing enables the physician to determine the mutation status when making treatment and prevention decisions for BRCA mutation carriers. The more entries in a gene database, the more useful that database is for helping physicians interpret results of an individual’s gene test, noted the Nature.com article.

That’s because there are thousands of possible variants on DNA bases that comprise BRCA genes and only some of these mutations will be linked to cancer. If a specific variant is significantly more frequent in women who develop cancer than in the general population, its contribution to disease risk can be calculated. Data collected from many people enables scientists to observe these variants frequently enough to make accurate calculations.

While Myriad still owns all the BRCA information it’s collected since the mid-1990s, noted the Slate.com blog, Myriad’s interpretations of mutations are scattered in millions of reports sent to women or clinical centers where they were tested. The ClinVar BRCA database is compiling mutation interpretations all in one place, thus providing a one-stop-shop where this information is accessible in the same place.

Price of BRCA Testing Falling after Supreme Court’s Decision

While the Supreme Court’s decision banned patenting naturally occurring genes, it maintained patenting of genes manipulated by biomedical laboratories—cDNA, with the “c” representing complementary, or not naturally occurring. This left 24 of Myriad’s patents related to its BRACAnalysis® test in tact. The company has also maintained a competitive advantage due to its BRCA database and reputation with physicians.

But the decision also opened the door for other laboratories to develop their own BRCA gene tests, noted a report published by the New York Daily News. As a result, other medical laboratories, have entered the market, including:

Six Medical Laboratories Are Contributing Data to ClinVar Database

In many respects, the Free the Data initiative and the ClinVar BRCA database effort show how the power of the Internet can be harnessed to the benefit of patients. Each is essentially a crowdsourcing approach to assembling medical information that has value to both physicians and patients. Free the Data’s website noted that currently only six of 78 labs offering BRCA testing worldwide have BRCA 1 and 2 data available in ClinVar. The group hopes that more clinical laboratories offering BRCA testing will decide to pool their data on BRCA mutations into ClinVar.

Meanwhile, other initiatives are being launched to encourage data sharing. Nature.com reported that the non-profit Global Alliance for Genomics and Health convened a meeting last month in London, England. Geneticists and physicians in attendance discussed an ambitious plan to widen access to data resources.

Under the name BRCA Challenge, the group wants to link important clinical genetic databases. Specifically mentioned were ClinVar and the Leiden Open Variation Database, which is funded by the European Union and operated by a team in The Netherlands.

—By Patricia Kirk

Related Information:

Cancer-gene data sharing boosted

Supreme Court issues compromise ruling on landmark BRCA gene patenting case

Free The Data

Consortium Launches Public Database of BRCA Data

A New High-Tech, Grass-Roots Effort to Fight Breast Cancer

Coalition Launches Open BRCA Sharing Site, Seeks to ‘Liberate’ Test Data

Undeterred by the Supreme Court, Myriad Starts Suing

Who Can Challenge Myriad’s Monopoly In Breast Cancer Gene Tests?

Myriad Back in Court Again — This Time as a Defendant

Supreme Court Strikes down Myriad Gene Patents in Unanimous Vote; Decision Is Expected to Benefit Clinical Pathology Laboratories

Invitae Responds to Myriad Genetics Lawsuit

Quest Sues Myriad in Advance of BRCA1/2 Assay Launch

Legal Fight over Gene Patents in AMP vs. Myriad Case to Be Subject of Oral Hearings at the Supreme Court, Just Months after Its Ruling

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