Geneticists on Both Coasts Issue 'Call to Action' On Need to Share DNA Data

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In the new issue of Evidence-Based Oncology, Ellen T. Matloff, MS, CGC, and Rachel E. Barnett, MS, CGC, of the Yale Cancer Center and Robert Nussbaum, MD, of UC San Francisco write that efforts by some genetic testing laboratories to grab market share in the lucrative BRCA testing market may put patients at risk, while violating ethical standards issued by the American Medical Association.


Geneticists on Both Coasts Issue “Call to Action” On Need to Share DNA Data

PLAINSBORO, N.J. — Geneticists from both coasts have issued a “call to action” over what they say are unethical actions by some genetic testing laboratories, which seek to gain or retain market share among patients trying to understand their cancer risk.

Ellen T. Matloff, MS, CGC, and Rachel E. Barnett, MS, CGC, of Yale Cancer Genetic Counseling at the Yale Cancer Center, and Robert Nussbaum, MD, of the University of California at San Francisco, are authors of a commentary appearing in the May-June 2014 issue of Evidence-Based Oncology, a news publication of The American Journal of Managed Care.

Their commentary, “Choosing a BRCA Genetic Testing Laboratory: A Patient-Centric and Ethical Call to Action for Clinicians and Payers,” decries what they say are efforts by some doctors to steer patients to laboratories, or even “demand” that tests by done by a certain lab. “In several instances it was discovered that these clinicians were either paid consultants for such laboratories, or received speaking fees or research funding from those entities,” the authors write.

This comes nearly a year after the U.S. Supreme Court, in a June 13, 2013, ruling, stripped away Myriad Genetics Inc.’s long-held patent protection for BRCA1 and BRCA2 testing. For years, Myriad held a monopoly on testing for patients’ risk of having breast or ovarian cancer, or, for men, of passing along those risks to daughters.


Matloff has said previously that the ruling, coupled with Angelina Jolie’s announcement that she had both breasts removed due to BRCA risk, caused interest in genetic testing to soar. The ruling set off competition in the genetic testing market, with a resulting drop in prices.

Since that time, however, the authors say that Myriad has moved to retain market share in two ways: first, the company continues its decade-long practice of not sharing patients’ DNA sequences with public research databases; and, second, company officials have made statements questioning the integrity of public databases, while telling investors that the quality of its privately held DNA data represents an edge over competitors.

The authors quote Myriad’s recent third-quarter investment call, which included the statement, regarding the cancer therapy PARP inhibitors, “Our competitors’ reliance on public databases with high VUS and error rates will further restrict patient access to this life-saving medicine.”

VUS, or variant of unknown significance, is a mutation in the BRCA1 or BRCA2 gene that may or may not result in cancer, and for which further study is needed. Mature data sets with more patients’ DNA sequences are less likely to report a VUS for which cancer risk has later been determined. However, the authors assert that Myriad is overstating its superiority. In reality, they write, Myriad’s reported 3% variant rate is only slightly lower than other labs — Ambry Genetics’ rate of 4.4% is cited – so the vast majority of patients would be unaffected.

Matloff told Evidence-Based Oncology that Myriad’s decision to withhold 11 years’ worth of BRCA testing data, a period in which it had market monopoly, means that patients who are tested elsewhere may not learn their true risk level, and could be denied life-saving cancer treatment as a result.

Matloff and her co-authors write that this decision runs afoul of an AMA resolution that considers unethical any decision to use “patents, trade secrets … or other means to limit the availability of medical procedures.”

The authors and others in the field have argued that withholding DNA data from public use is wrong for the following reasons:

  • It puts patients at risk
  • It denies use of the data for public benefit, even though many tests that allowed the gathering of DNA were paid for by Medicare or Medicaid
  • It risks ongoing market concentration of certain genetic tests, which will keep prices high for patients, insurers, employers, and taxpayers. Conversely, the authors write, “sharing of genetic data will benefit patient care and clinical research, which may lead to lower healthcare costs for all.”

The authors write that broadening access to DNA data “is particularly relevant for publicly funded insurers that could create incentives or make data sharing a stipulation of coverage.”

The commentary appears in Evidence-Based Oncology with two related stories: a look at efforts to reform the reimbursement system for molecular diagnostic testing, which includes Myriad’s assertion of “rights” to intellectual property; and a portrait of GenBank, the public data-sharing initiative of the National Institutes of Health (NIH).

About the Journal

The American Journal of Managed Care, now in its 20th year of publication, is the leading peer-reviewed journal dedicated to issues in managed care. In December 2013, AJMC launched The American Journal of Accountable Care, which publishes research and commentary devoted to understanding changes to the healthcare system due to the 2010 Affordable Care Act. AJMC’s news publications, the Evidence-Based series, bring together stakeholder views from payers, providers, policymakers and pharmaceutical leaders in the areas of oncology, diabetes management, respiratory care, and immunology and infectious disease.

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