June 12, 2013 | by Nicole White
The discovery of genes that may increase a woman’s risk of developing breast cancer has resulted in potentially powerful tools to guide care – but like all new technologies, there’s a learning curve.
Many physicians surveyed for a newly released City of Hope study said that, although they feel confident ordering tests that look at a commonly known single gene (for example, the BRCA1 or BRCA2 mutations linked to hereditary breast cancers), they’re less likely to use more sophisticated panels that examine multiple genes.
“Here’s the snapshot: Clinicians are trying to use this technology and they’re desperately in need of some background, learning and teaching about how to do this,” said Jeffrey Weitzel, M.D., director of Clinical Cancer Genetics at City of Hope and an author on the study. “We’re very rapidly being thrust into having these tools, but not really knowing how to use them effectively.”
Beyond the BRCA mutations, researchers have identified about 20 other genes that may be implicated in causing cancer, many of them rare or with more discrete effects. Often, clinicians test gene by gene in their search for a cancer-causing connection, a strategy that is time-consuming, expensive and trying for the patient.
Next-generation sequencing technology has allowed for an array of genes to be examined with a single test, which is more expedient, and more cost-effective, but also more difficult to interpret. With so many genes on one test, some anomalies are likely to be found – and often the significance of these anomalies is simply unknown.
For the study, researchers developed a 27-item survey and administered it online to 325 members of nationwide clinical cancer genetics community of practice. The poll received 94 responses.
The top reasons physicians surveyed said they did not order multigene or whole genome tests included concerns about how useful they would be in a clinical setting; the challenge of interpreting and communicating results; lack of knowledge about them; and the potential costs of these broader tests. In fact, only about 2 percent of the physicians ordered whole genome or exome tests, according to the study led by Kathleen Blazer, Ed.D., M.S., L.C.G.C., a cancer risk counselor and assistant director of the Cancer Genetics Education Program at City of Hope.
Obviously more education in how to use new genetic screening tools is necessary, Weitzel and Blazer said. Only then will physicians be able to make fully informed clinical decisions on behalf of their patients.
The researchers have made this kind of education their life’s work. Already, they’ve provided training to community hospitals around the world on how to establish genetic counseling programs. To date, more than 400 clinicians from 47 states and 13 countries have completed the training program.
Weitzel is furthering his work every chance he gets. He was recently part of a special educational session, offered at the American Society of Clinical Oncology’s annual meeting in Chicago, on using next generation gene sequencing to assess cancer risk.
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