ePolicy News September 2012
Wednesday, September 5, 2012
Federal Appeals Court Upholds Earlier Gene Patent Ruling
Last month, a divided U.S. Federal Circuit Court of Appeals upheld its ruling that gives Myriad Genetics the right to patent BRCA 1 and BRCA2, two genes that are linked to increased rates of breast and ovarian cancer. The patents allow Myriad to be the exclusive U.S. commercial provider of screening assays for these genes, and permit the company to determine the terms and price for testing, making it impossible for women to access alternate tests or obtain a second opinion about their results. The patents also give Myriad the authority to prohibit researchers from investigating these genes without first gaining permission.
The ruling is part of an ongoing legal battle regarding the legality of gene patents. In 2009, the American Civil Liberties Union (ACLU) filed suit against Myriad Genetics and the United States Patent and Trademark Office (USPTO) on behalf of numerous clients, including medical societies, researchers, patient advocates, and patients. The plaintiffs, which include the American Society for Clinical Pathology (ASCP), argue that patents on human genes, which are “products of nature,” violate the First Amendment and patent law. Furthermore, such patents interfere with medical treatment and stifle scientific research.
The appeals court issued a similar ruling last year, but was ordered by the U.S. Supreme Court earlier this year to reconsider the Myriad case in light of its recent ruling against patents on a different, non-genetic diagnostic test. In this case, patents were rendered invalid because they reiterated “laws of nature.” While the appeals court ruled that Myriad's patents on the genes are valid "because each of the claimed molecules represents a nonnaturally occurring composition of matter," it invalidated the company's claims on testing for cancer risk by comparing or analyzing DNA sequences. The court ruled that these methods are based on "abstract, mental steps" of logic that are not "transformative."
Several major medical organizations, including the American Medical Association (AMA), the March of Dimes, and the American Society for Human Genetics, have filed friend-of-the-court briefs in support of the plaintiffs’ challenge to the patents on the BRCA genes. In addition, the United States Department of Justice filed a brief for the second time, arguing that many of the gene patents issued by the USPTO are invalid.
The plaintiffs are considering their options. They may petition for a full bench appellate court review or appeal directly to the U.S. Supreme Court.
ICD-10 Conversion Delayed for One Year
The Department of Health and Human Services (HHS) last month approved a one-year delay in the compliance date for nationwide conversion to the International Classification of Diseases, 10th Edition diagnosis and procedure codes (ICD-10). The new compliance deadline is October 1, 2014. The ICD-10 code sets will include codes for new procedures and diagnoses that improve the quality of information available for quality improvement and payment services. The delay is intended to allow healthcare organizations, particularly small organizations, adequate time to prepare for the conversion. HHS included the change in a
208-page final rule (PDF), which establishes a unique health plan identifier for all insurers. According to HHS, the identifier, along with other administrative simplification regulations included in the Affordable Care Act, will save the healthcare system an estimated $6 billion over the next decade.
ASCP Attends the Clinical Laboratory Improvement Advisory Committee (CLIAC) Meeting
The Clinical Laboratory Improvement Advisory Committee (CLIAC) held its meeting at the Center for Disease Control and Prevention’s campus last month. This year marks the 20th year since the Committee was formed in 1992; ASCP has attended these meetings since CLIAC’s inception. The agenda included updates from the Centers for Disease Control and Prevention (CDC) on the Cytology Workload Workgroup meeting, proficiency testing update, and genetic testing guidance; the Food and Drug Administration (FDA) on actions to improve the pre-market programs; and the Centers for Medicare and Medicaid Services (CMS) on the CLIA data, status of CMS/CDC regulations and ICQP Implementation.
Provider-performed microscopy procedures, clinical laboratory integration into healthcare collaboratives, and laboratory medicine best practices were also among the topics discussed. The CLIAC provided the attendees with copies of the CDC’s Morbidity and Mortality Weekly Report on “Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders.”
Communication informatics was thoroughly addressed at the meeting. The Committee formed the following recommendations: “CLIAC recognizes that serious patient safety risks can arise from errors in the order, transmission, display, and interpretation of lab data in emergency health records (EHRs). Display and use of nonnumerical lab information is an under-appreciated critical issue. Interoperability with laboratory information systems (LIS), as well as correct transmission of data across multiple interfaces, is also critical. The lab community can provide important input and solutions to these challenging problems.”
CLIAC made the following recommendations:
- Laboratory experts with experience in hospital, ambulatory, or public health settings should be members of key ONC and other agency groups that are setting standards and policies for laboratory information in EHRs.
- Provider usability is an important strategy for mitigation of these patient safety risks. Further work in this area should be supported.
- A national system for reporting EHR lab-related safety events and near misses should be established to clearly define the prevalence, understand the underlying causes, and stimulate the design of broad-based solutions.
- A catalogue of various solutions using work that has already been done should be created. Areas of expertise that may not have been previously engaged should be considered for inclusion.
ASCP continues to monitor developments on the topics discussed at the meeting. For information on CLIAC’s upcoming meetings, notes, and agenda, please see link:
Report on Increasing the Supply of Forensic Pathologists in the United States Released for Public Comments
The System Infrastructure Committee of the Scientific Working Group on Medicolegal Death Investigation (SWGMDI)
has prepared a draft document entitled, “Increasing the Supply of Forensic Pathologists in the United States: A Report and Recommendations.” The report reviewed the reasons for the shortage of forensic pathologists, and makes recommendations to increase their supply in the United States. According to the document, the field of forensic pathology is decreasing in popularity among medical students. Some of the issues include: no direct path for forensic pathology training in all of the states with medical schools; little or no exposure to forensic pathology in the medical school curriculum; lack of funding for the Accreditation Council for Graduate Medical Education (ACGME)-approved forensic pathology fellowship positions; cumbersome (ACGME) requirements for the program; drop-out of forensic pathologists; and inadequate compensation.
The SWGMDI made the following recommendations:
- The specialty of forensic pathology and death investigation needs to be made more visible in medical school (as does exposure to general pathology) and pathology residency curricula.
- The exposure to autopsy, forensic pathology, and death investigation needs to be improved and made more positive in pathology residency programs. Nonforensic pathology faculty need to be more supportive of forensic pathology as a legitimate medical and academic discipline.
- Financial incentives need to be provided to attract medical students and pathology residents into the field of forensic pathology.
- The salaries of forensic pathologists need to be made competitive with other medical specialties requiring similar years of training.
- State-centered initiatives need to be developed to attract forensic pathologists to selected states.
- Forensic pathology training programs need to be increased in number along with an increase in funded forensic pathology fellowship positions.
- Forensic pathology training programs need to be proactive in teaching their fellows about the profession and factors, such as burnout, that may cause dropout from the specialty SWGMDI’s.
- The ACGME requirements for training programs in forensic pathology need to be revised to better reflect the unique aspects of forensic pathology training and practice.
- Forensic pathology training programs need to have more formal relationships with medical schools and pathology departments.
- Novel mechanisms of death investigation system funding need to be developed.
This draft document was made available to the general public last month for an opportunity to obtain and provide comments.
Link to the Federal Register announcement:
The link to the report can be found here.
Self Referral Law Repeal Veto Request Efforts Continue
ASCP, in partnership with the College of American Pathologists (CAP) and the American Clinical Laboratory Association (ACLA), is continuing its efforts to persuade New York Gov. Andrew M. Cuomo to veto legislation approved by the New York State Assembly to repeal the state’s Self-Referral Law. The measure, AB3551A, would re-write New York’s current state law to follow the federal Stark Law with regard to the self referral of physician services. The Legislature approved AB 3551 in June. The bill has not yet been sent to the Governor for approval, although it is expected this could happen any day.
Currently, New York State is served by a self-referral prohibition that is much stronger than federal law—barring many activities allowed under federal law. The federal Stark Law is replete with loopholes that allow ordering providers to profit on the anatomic pathology, clinical laboratory, advanced imaging, radiation oncology, and other services ordered as part of patient care that is provided in the ordering physician’s office. Interestingly, the state’s current Physician Self-Referral Law was signed into law by then-Gov. Mario Cuomo, the current governor’s father.
In addition to working with CAP and ACLA, ASCP has been working on the veto request with the New York State Clinical Laboratory Association, the New York State Society of Pathologists, and a number of independent laboratories. ASCP has also been working with the Alliance for Integrity in Medicare, a diverse collection of medical specialty organizations interested in ending the practice of physician self referral.
Canadian Researchers Develop New Method for BRCA1 and BRCA2
Researchers in Vancouver have developed a new, more effective method for analyzing BRCA1 and BRCA2 mutations. Mutations of these genes are associated with elevated risk for breast and ovarian cancers, and mutation carrier status can influence both treatment and prognosis. The standard method of direct sequencing is labor-intensive and costly, and it targets only a part of the BRCA1 and BRCA2 genes.
The new method uses “long range PCR” to generate amplified BRCA1 and BRCA2 fragments, called amplicons, from the DNA of familial breast cancer patients. Amplicons are screened using next generation sequencing or “deep sequencing,” which simultaneously screens millions of DNA molecules, dramatically increasing both speed and throughput. Current methods target only small portions of the BRCA genes, while deep sequencing can screen the entire genomic region.
The new method successfully identified all of the expected BRCA1/2 variants, including one genetic variant that was missed due to human error. The test was done at a very low cost, and had a turnaround time of 12 days. "One of the key advantages of workflow of long-range PCR is the ability to visually detect large genomic duplications, deletions, and insertions," wrote lead investigator Hilmi Ozcelik, PhD, of the Fred A. Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, in
The Journal of Molecular Diagnostics. "When combined with next generation sequencing, long-range PCR can be a powerful tool in the detection of BRCA variants in the clinical setting. Our method confirmed the presence of variants with very high accuracy, and without false-positive results." The study is published in the September issue of
The Journal of Molecular Diagnostics.
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