Lasker award winner shines spotlight on breast cancer gene testing

In a bold move, Mary-Claire King, discoverer of the first gene identified as predisposing women to breast cancer, BRCA1, issued a public call for expanding breast cancer gene screening beyond the narrow group now considered at risk. King, currently at the University of Washington, Seattle, was awarded the 2014 Lasker Foundation award for her achievements in biomedical research. She seized the moment to suggest that population-wide screening in the United States could result in identifying more than a quarter million women at risk. In an opinion piece published in JAMA [2014;312(11):1091–1092] in conjunction with her award, King drew attention to a population-based study in which she and an Israeli research team screened an Ashkenazi Jewish population and found that the risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers identified through screening were as high as those identified through family history. “Women do not benefit by practices that ‘protect’ them from information regarding their own health,” King wrote in her editorial. “They should have the choice to learn if they carry an actionable mutation in BRCA1 or BRCA2.” Any change in the screening recommendations of current guidelines—which advise that women be screened only if they have already had a diagnosis of cancer or a family history of breast and ovarian cancer—would result in a dramatic expansion of the need for counseling and education on risk. —Karyn Hede, News Editor

Laboratory-developed tests face FDA scrutiny

In late July 2014, the US Food and Drug Administration (FDA) signaled that it is readying a regulatory framework that would cover laboratory-developed tests (LDTs), a category of testing that has escaped the more stringent standards that apply to many commercial medical tests. While announcing 60 days’ notice for the proposed new rules, the FDA explained that the rise of genomic testing, as well as the commercial marketing of such tests, prompted the agency to act. It is estimated that more than 10,000 such tests are currently being marketed and sold, some in direct competition with tests that have undergone rigorous clinical testing. According to FDA Commissioner Margaret A. Hamburg, “Inaccurate test results could cause patients to seek unnecessary treatment, or delay and sometimes forgo treatment altogether. Today’s action demonstrates the agency’s commitment to personalized medicine, which depends on accurate and reliable tests to get the right treatment to the right patient.” However, the announcement has not been popular with many organizations, including a group of 23 academic labs that sent a letter to the Obama administration in July in an effort to stave off regulatory changes. They argue that LDTs constitute testing services, not devices, and should not be regulated as such. Furthermore, they maintain that FDA regulation would stifle innovation. The regulatory change also faces opposition within Congress, as FDA officials were called to testify in September before a congressional committee skeptical of its regulatory authority. The FDA responded that the new requirements would not apply to tests for rare diseases or those that have no equivalent falling under current FDA scrutiny. But the agency is expected to propose that tests competing with FDA-approved tests will be required to submit data proving validity under the anticipated new rules. —Karyn Hede, News Editor

Genetics in Medicine | Mission Statement

Genetics in Medicine is a monthly journal committed to the timely publication of:

  • Original reports which enhance the knowledge and practice of medical genetics

  • Strategies and innovative approaches to the education of medical providers at all levels in the realm of genetics

As the official journal of the American College of Medical Genetics and Genomics (ACMG), the journal will:

  • Provide a forum for discussion, debate and innovation concerning the changing and expanding role of medical genetics within the broader context of medicine

  • Fulfill our responsibility to the College membership through the publication of guidelines, policy statements and other information that enhances the practice and understanding of medical genetics

Finally, as genetics becomes increasingly important in the wider medical arena, we will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to providers outside of the genetics community through appropriate reviews, discussions, recommendations and guidelines.