News and Views
Editor’s note: Steven H. Kroft, MD, FASCP, is the president-elect of the American Society for Clinical Pathology (ASCP). With the United States Supreme Court expected to issue its ruling on the enormously important “Association for Molecular Pathology v. Myriad Genetics” later this month, MLO is pleased to print a letter that we received from Dr. Kroft outlining his and his organization’s perspective.
Dr. Kroft
“The case of “Association for Molecular Pathology v. Myriad Genetics” that is presently before the United States Supreme Court represents a landmark lawsuit that has dramatic implications for the field of laboratory medicine. The principle at issue in the case is whether human genes—not the methods and technologies for investigating these genes, but the genes themselves—can be patented. Can human genes (specifically BRCA1 and BRCA2 in this case) be considered “inventions” subject to patent protection? Or are they products or “laws” of nature that cannot be considered the property of an individual or a corporation?
“BRCA1 and BRCA2 are cancer susceptibility genes that are mutated in 0.5% to 2.5% of women in the Unites States; these mutations confer a 50% to 90% lifetime risk for breast cancer and 25% to 50% risk for ovarian cancer. Currently, Myriad Genetics, the holder of the patent, is the only laboratory providing testing for these mutations that have such a dramatic impact on the lives of affected women. This patent has been vigorously enforced, not only preventing other laboratories from developing tests for the mutations, but also limiting research on these genes that could lead to advances in diagnosis and treatment.
“The American Society for Clinical Pathology (ASCP), a co-plaintiff in the lawsuit against Myriad, takes the position that human genes should not be patentable because they are, in fact, products of nature. ASCP also believes that such patents, if enforced, are contrary to the public good. A moratorium on any activity related to particular genes, as in the case of BRCA1 and BRCA2, keeps the price of testing high, sometimes prohibitively so, limits transparency, prevents development of alternative (perhaps better or cheaper) methods of testing, and stymies scientific advances that could affect millions of women.
“Imagine being told by your doctor that you have a 50 % to 90% chance of developing a devastating disease that will change your life, but also being told that you cannot obtain a second opinion. This situation seems contrary to principles of unrestricted access to high-quality care that many healthcare professionals and patients consider to be an indispensable feature of healthcare delivery in this country. Similarly, restriction of research on these genes also violates time-honored principles of free exchange of information in the area of scientific inquiry.
ASCP hopes the Court rules in favor of the well-being of our patients, healthy progress in advancing the medical sciences, and plain common sense.”
Infectious Disease
SARS-like coronavirus reported in a patient in France. There is more ominous news about the new coronavirus, first identified last year, which has been reported in Saudi Arabia, Jordan, and the United Kingdom. Early last month, the World Health Organization (WHO) reported that a case of the disease had been confirmed in France; this news was soon followed by reports that two people with whom the patient had been in contact, a roommate and a physician, were being evaluated for the disease. The patient, who had recently returned from a visit to the United Arab Emirates, had been placed in isolation in an intensive care unit. Thirty-three cases have been confirmed by laboratory testing worldwide. The virus is known to be from the same family as the one that was responsible for the outbreak of Severe Acute Respiratory Syndrome (SARS) that began in Asia in 2003 and killed 774 people. WHO officials say that they know of two instances of probably human-to-human spread of the new coronavirus. As this issue of MLO went to press, WHO officials were visiting a hospital in Saudi Arabia where a cluster of cases may indicate healthcare-acquired transmission.
HIV
Danish researchers claim they are “within months” of an HIV breakthrough. Researchers at Aarhus University Hospital in Denmark have been working on an exciting new approach to HIV they believe could lead to a cure. The technique would involve flushing the virus from its “reservoirs” within human DNA to the surface of cells, enabling the host’s immune system to kill the virus. This promising research has led, unfortunately, to somewhat sensationalistic “AIDS cure near” headlines in some media—that is an overstatement. The Aarhus approach is, however, a potentially groundbreaking one. Researcher Ole Søgaard says, “I am almost certain that we will be successful in releasing the reservoirs of HIV. The challenge will be getting patients’ immune systems to recognize the virus and destroy it. That will depend on the strength and sensitivity of individual immune systems.” The technique has worked on human cells in a research lab; 15 patients with HIV are taking part in trials.
Regulation
COLA calls for more education for waived testing sites. Laboratory accreditor COLA recently released a white paper on “waived“ laboratory testing, detailing errors found in sites performing waived testing. COLA renewed its call for increased education for Certificate of Waiver site personnel to ensure quality testing. In the updated paper, COLA documents the growing role of waived testing. COLA says that evidence continues to mount that “significant quality problems exist in the largely unregulated labs relying on these tests, with the potential to contribute to errors and even patient harm.”
Research shows that since 1993, the number of CLIA-waived tests has increased from nine tests to more than 5,400 test systems and 119 analytes. During this same period, the number of laboratories issued a Certificate of Waiver has grown from 20% to 60% of the nearly 230,000 laboratory testing sites in the United States. The waived testing quality issue has been exacerbated by technology advances that enable many tests to now be performed using mobile devices by personnel with limited experience and training, COLA says.
“Studies conducted by the federal government have demonstrated that a persistent percentage of Certificate of Waiver sites do not meet minimal requirements, and are not aware of recommended practices to help ensure quality testing,” says Douglas Beigel, CEO of COLA. “More education is needed for Certificate of Waiver site directors and testing personnel about the importance of following manufacturers’ instructions, adhering to expiration dates, performing Quality Control testing, and proper documentation and recordkeeping.” Beigel notes that a variety of educational resources for waived labs are available, including COLA’s own voluntary waived testing program.
