Obama budget gets mixed reviews from lab organizations. Leading lab advocacy groups have both thumbs-ups and thumbs-downs for aspects of the Administration’s proposed Fiscal Year 2015 budget. The National Independent Laboratory Association (NILA), representing independent community and regional laboratories throughout the United States, has expressed deep concern over the proposal to make additional significant cuts to Medicare lab payments, particularly cuts that would affect the most vulnerable Medicare beneficiaries. The proposed budget would lower Medicare Part B payment rates to clinical laboratories by 1.75% per year from 2016 through 2023, for a cumulative cut of 14%.
The American Society for Clinical Pathology (ASCP) has applauded the Administration’s support for Stark reform, as expressed in the inclusion in the budget of a proposal that would amend the In-Office Ancillary Services (IOAS) exception to prohibit self-referrals for anatomic pathology, advanced imaging, radiation therapy, and physical therapy services. ASCP has especially commended the Administration for its commitment to protecting patients from the harmful byproducts of self-referrals for certain complex ancillary services that the organization sees as inappropriately included under the IOAS exception.
Protective mutations for type 2 diabetes identified. An international team led by researchers at the Broad Institute and Massachusetts General Hospital has found mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk factors such as obesity and old age. In the new study, researchers describe the genetic analysis of 150,000 patients showing that rare mutations in a gene called SLC30A8 reduce risk of type 2 diabetes by 65%. The results were seen in patients from multiple ethnic groups, suggesting that a drug that mimics the effect of these mutations might have broad utility.
The protein encoded by SLC30A8 had previously been shown to play an important role in the insulin-secreting beta cells of the pancreas, and a common variant in that gene was known to slightly influence the risk of type 2 diabetes. However, it was previously unclear whether inhibiting or activating the protein would be the best strategy for reducing disease risk.
In laboratory experiments, co-senior author David Altshuler, MD, PhD, and his team showed that the protective mutations disrupt the normal function of the protein encoded by SLC30A8, known as ZnT8. The ZnT8 protein transports zinc into insulin-producing beta cells, where zinc plays a key role in the crystallization of insulin.
Global Alliance for Genomics and Health (GA4GH) meets to advance genomics. Early last month the GA4GH, an alliance of 148 of the world’s leading biomedical research institutions, healthcare providers, information technology and life science companies, funders of research, and disease and patient advocacy organizations, held its first face-to-face partner meeting at the Wellcome Trust in London. The nonprofit partnership brings together organizations from Africa, Asia, Australia, Europe, and the Americas.
Technological advances have led to large-scale collection of data on genome sequences and clinical outcomes, with great promise for medicine. In recent years, the cost of genome sequencing has fallen one million-fold, while more and more people are choosing to make their genetic and clinical data available for research, clinical, and personal use. However, interpreting this data requires an evidence base for biomedicine that is larger than any one party alone can develop, and that adheres to the highest standards of ethics and privacy.
Stemming from an initial meeting held in January 2013, last June almost 70 organizations announced their intention to form a global alliance to tackle the challenges of genomic and clinical data sharing. They agreed to develop and promulgate international standards, both technical and regulatory, to share and interpret this wealth of information in a manner that is effective, responsible, and secure. Since then, the inclusive effort has doubled its membership.
Hospital introduces HLA typing by next-generation sequencing. Immunogenetics experts at The Children’s Hospital of Philadelphia (CHOP) have developed a laboratory test to characterize the genes that encode HLA molecules. The test relies on comprehensive gene sequencing technology to type human leukocyte antigens (HLAs)—highly variable proteins on cell surfaces that are essential to immune function.
The new test may improve transplantation outcomes through a more refined assessment of donor compatibility and may expedite the donor selection process from bone marrow registries. It also provides an advanced tool for research in immunological diseases, infectious diseases, and pharmacogenomics. CHOP will offer the HLA typing test for patient testing as a service to medical and academic centers.
According to Dimitri Monos, PhD, director of CHOP’s Immunogenetics Laboratory, the new test replaces preliminary and reflexive tests with a single test, covering the full HLA genomic region. It can currently distinguish among 10,500 different alleles of all known HLA types and can fully characterize new alleles yet to be discovered. Monos and colleagues developed a new protocol for HLA genotyping using an Illumina sequencing platform, the MiSeq.
Laboratorians prepare for next month’s CLMA conference.KnowledgeLab 2014 is just around the corner: the annual meeting of the Clinical Laboratory Management Association will be held from May 4 through May 7 in Las Vegas, NV. It is your opportunity to, in the words of CLMA, “connect with hundreds of laboratory leaders and exhibitors, grow your network and your knowledge with four days of education based on the ten domains of the Body of Knowledge, and lead your team and the laboratory profession through healthcare challenges and opportunities.”
General Sessions will cover such topics as reducing the use of unnecessary lab tests; Health Economics and Outcomes Research (HEOR); change initiatives; and value-added lab testing services. Breakout Sessions include such topics as succession planning, genomics and personalized medicine, disaster response, Meaningful Use Stage 2, reimbursement and regulatory issues, system budgeting for lab managers, the changing role of the pathologist in laboratory test utilization management, laboratory information systems, blood product utilization, and many more. In addition, the Exhibit Hall at the Rio All-Suite Hotel and Casino Pavilion will be open from 10:00 AM to 2:00 PM both Monday, May 5, and Tuesday, May 6, and MLO will be there; please come by and say hi at Booth 604.