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Put It on the Board, 4/15

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Door opens on direct access to genetic tests

BRCA mutation type affects cancer risks

Bruker’s MALDI lands additional FDA clearance

Quest, Quintiles join to offer clinical trial lab services

Policy Meeting to begin May 4; registration open


Door opens on direct access to genetic tests

The FDA’s recent move to give 23and­Me permission to market this country’s first direct-to-consumer genetic test, for Bloom syndrome, goes beyond the one in 107 Jews of Ashkenazi descent who are carriers of the rare disorder. At the same time as the agency gave the Mountain View, Calif.-based personal genetics company the go-ahead on its Bloom syndrome carrier test, the FDA also moved to classify autosomal recessive carrier status tests as class II medical devices and exempt them from premarket review.

“We’re excited that they have created a regulatory path forward for direct-to-consumer genetic testing,” 23andMe chief medical officer Jill M. Hagenkord, MD, tells CAP TODAY. “Historically, this kind of model hasn’t existed. We’ve had other over-the-counter, home-use tests like the HIV test. This is the first time we’re doing it for genetic testing.”

Dr. Hagenkord, a member of the CAP/American College of Medical Genetics and Genomics Biochemical and Molecular Genetics Resource Committee, says 23andMe does not intend to market the Bloom syndrome carrier test—or any other autosomal recessive carrier tests—as standalone options. Instead, she says, these tests will be rolled into a broader health-related portfolio of information offered as an option to 23andMe customers, probably within the year.

“Our service, when your kit is delivered to you, the subject line is, ‘Welcome to you.’ It’s information about you. You wanted to look at your DNA and it can tell you lots of things—fun things, serious things, information about your relatives,” she says. “It’s really an experience in finding out more about yourself, not necessarily about finding out actionable, preventable health information.”

To secure the FDA approval, 23andMe conducted several studies to demonstrate the accuracy of its test and show that patients could perform the necessary saliva collection and understand the results.

“It’s done in a CAP-accredited, CLIA-certified lab, with greater than 99 percent accuracy,” Dr. Hagenkord says. “Because it’s done in that setting, this test could be used in clinical decision-making. If you were concerned about this or had a family medical history of this disease, you would want to talk to your doctor about it.”

While the test can determine carrier status for Bloom syndrome among adults of reproductive age, it cannot determine whether a person has two copies of the BLMAsh variant. The FDA approval of the 23andMe genetic test comes less than a year and a half after the agency ordered the company to stop marketing its Personal Genome Service. The agency said 23andMe had not provided the data needed for the FDA to assess the accuracy, reliability, and clinical meaningfulness of the testing involved in that service.

In the U.S., the company only provides ancestry information and raw, uninterpreted genetic data.

One of Dr. Hagenkord’s key goals since joining 23andMe about a year ago has been to improve communication with stakeholders in the world of medical genetics and genomics, bioethics, and laboratory medicine. She helped organize a meeting of more than two dozen leaders in the space.

“We all sat down and had a fantastic meeting of the minds,” Dr. Hagenkord says. “We had a really productive back-and-forth.”

One of the changes to come out of that meeting was an effort to improve the health-related services available at the 23andMe website.

“We’ve always offered a link to genetic counseling. Now we’re working on ways to make that more accessible than we have in the past,” she says. “We’re putting together research projects with key opinion leaders in medical genetics and genetic counseling to find out things that hopefully the whole community can learn from. We want to offer more video vignettes or online or on-demand counseling, and find some way to get people’s questions answered in a more streamlined way.”

Not surprisingly, Dr. Hagenkord sees a big upside to direct access to genetic testing.
“I don’t think we in pathology or molecular pathology should be afraid of, or threatened by, direct-to-consumer testing. We should embrace this as a new way to practice our trade,” she says. “It’s a new way to practice pathology and to be a pathologist.”

—Kevin B. O’Reilly


BRCA mutation type affects cancer risks

In a study involving more than 31,000 women with cancer-causing mutations in the BRCA1 or BRCA2 genes, researchers identified mutations that are associated with significantly different risks of breast and ovarian cancers.

Researchers evaluated cancer diagnoses for 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations (JAMA. 2015;313 [13]:1347–1361. doi:10.1001/jama.2014.5985). The team then analyzed whether the BRCA1 and BRCA2 mutation type or location was correlated to breast and/or ovarian cancer risk. The investigators identified regions of both BRCA1 and BRCA2 that, when mutated, confer higher risks of ovarian cancer, and other regions that confer higher risk of breast cancer.

For example, a woman with a BRCA1 mutation would previously have been thought to have a 59 percent risk of breast cancer and a 34 percent risk for ovarian cancer, up until age 70. The new research suggests that women who carry a specific subset of BRCA mutations most commonly present in the Ashkenazi Jewish population have a higher risk of breast cancer (69 percent) and a lower risk of ovarian cancer (26 percent).


Bruker’s MALDI lands additional FDA clearance

Bruker has received 510(k) clearance for library and methods expansion for the MALDI Biotyper CA System, sold in the U.S. for clinical microbiology. In November 2013, Bruker’s system initially cleared as an IVD solution, including instrumentation, software, reagents, standard operating procedures, and a library of 40 aerobic Gram-negative bacterial species or species groups covering 100 clinically relevant species.

The clearance of a second, expanded claim adds 170 species and species groups representing 180 clinically relevant species of aerobic Gram-positive, fastidious Gram-negatives, Enterobacteriaceae, anaerobic bacteria, and yeasts. Customers also will have more specimen preparation options to optimize workflows. The system can now in total identify 210 species or species groups representing more than 98 percent of the typical bacterial identification workflow of clinical microbiology labs, the company said.
“This latest clearance allows an even larger segment of U.S. hospitals and clinical microbiology laboratories to adopt this revolutionary technology for serving their infectious disease physicians and patients, and opens the door for making it the new standard of care,” Bruker CEO Frank H. Laukien, PhD, said in a statement.

As part of its continued, recent clinical trials, Bruker had submitted to the FDA data from multicenter studies, consisting of more than 10,000 spectra. Results generated by the MALDI Biotyper CA System were compared with 16s rRNA molecular sequencing for bacteria and ITS sequencing for yeasts. This was supplemented by protein gene sequencing, which showed that 98.9 percent of the isolates tested yielded correct identifications to the genus or species level, with only 0.9 percent of isolates unidentifiable.


Quest, Quintiles join to offer clinical trial lab services

Quest Diagnostics and contract research organization Quintiles have announced a definitive agreement to form a global clinical trials laboratory services business. The joint venture will offer an industry-leading test menu to its customers across all segments of the biopharmaceutical industry—a group that includes each of the 20 largest biopharma companies. Upon closing of the transaction, Quintiles will own 60 percent and Quest will own 40 percent of the new joint venture.
Both companies boast diverse experience and data access. Quest draws from 20 billion test results, and Quintiles’ assets include electronic health records representing more than 60 million patient lives and a network of 250,000 clinical investigators.

The joint venture will be led by a global management team appointed from Quintiles and Quest.
“We’re thrilled to partner with the world’s leading biopharmaceutical services provider to help customers succeed with their clinical trials and support the pursuit of precision medicine,” Quest CEO Steve Rusckowski said. “The joint venture model will enable us to generate growth and value from our clinical trials assets while simultaneously strengthening our focus on our core diagnostic information services business.”

The transaction is expected to close in the third quarter of this year.


Policy Meeting to begin May 4; registration open

The May 4–6 CAP Policy Meeting in Washington, DC, will feature health policy influencers in the regulatory and legislative arenas and provide CAP members with an opportunity to meet with their elected officials. Pathologists will visit with lawmakers during the CAP’s Annual Hill Day on May 6.

In one of two keynote addresses, former Centers for Medicare and Medicaid Services administrator Don Berwick, MD, will present a vision of how—through continual improvement, innovations in providing health care, stronger leadership, and smarter policy—the country can forge a system that satisfies patients, achieves better outcomes, respects limited resources, and cares for the disadvantaged.
The other keynote speaker is Pulitzer Prize-winning columnist George Will, who will provide CAP members with commentary on politics, the economy, and American society.

Marc Hartstein, director of the CMS Hospital and Ambulatory Payment Group, will speak also. Hartstein has been with the CMS for more than two decades. He worked on the original Medicare physician fee schedule and later as a CMS hospital payment policy analyst. He manages four divisions that set payments for more than $260 billion of Medicare expenditures.

Registration information is at www.cap.org by clicking “Advocacy” under the Get Involved section tab.


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Quest acquires PhenoPath
November 2018—Quest Diagnostics has acquired PhenoPath Laboratories, which provides immunophenotyping, hematopathology, and molecular pathology services. The PhenoPath business, in Seattle, will operate as part of AmeriPath, a wholly owned business of Quest. Steve Rusckowski, Quest chairman, president, and CEO, said in a statement: “PhenoPath has a strong record of innovation and provides several capabilities that complement and extend our own, particularly in pathology and molecular oncology. It also deepens our presence in the Pacific Northwest.” PhenoPath founder Allen Gown, MD, tells CAP TODAY that continued consolidation in the laboratory industry and insurance reimbursement challenges have posed significant risks to PhenoPath’s future growth. “In Quest/AmeriPath,” he says, “we found an organization that realized not only the excellence of PhenoPath’s past and present but also the extraordinary future that, with their assistance, we can have.” Dr. Gown founded PhenoPath in 1998.