A Medical Device Daily

Personalized medicine is on the march, and recent discoveries in the genetic factors leading to diabetes mellitus may soon allow doctors and patients to detect a propensity toward Type II (insulin-resistant) diabetes before symptoms surface.

A team of researchers from Finland and the U.S. collaborated with two other groups to map out four new genetic variants that display a strong correlation with Type II diabetes, and confirmed the validity of six others. One group, led by Michael Boehnke, PhD, of the University of Michigan School of Public Health (Ann Arbor), includes members of the National Human Genome Research Institute and a researcher at the University of Helsinki (Helsinki Finland). The other collaborating institutions are the Broad Institute of Harvard and MIT (Cambridge, Massachusetts) and the Wellcome Trust Case Control Consortium/UK (Oxford, UK).

One of the new genes under scrutiny is either the gene responsible for manufacture of insulin-like growth factor 2 binding protein 2 (IGF2BP2) or is in the immediate vicinity of that gene. The protein that is the subject of IGF2BP2's work, which is insulin-like growth factor 2 (IGF-2), is thought to affect the regulation of insulin action, but this link is not universally assumed. IGF-2 is widely known to mediate the effects of human growth hormone, which is secreted by the pituitary.

The other genetic components now on the radar screen include CDKAL1, a gene that codes for cyclin-dependent kinase 5, or CDK5, which is partly responsible for stimulating insulin production. Excess activity on the part of CDK5, in turn, is suspected of causing degeneration in pancreatic beta cells, which make insulin.

Two other protein kinase regulators, CDKN2A and CDKN2B, are also on the roster for diabetes suspects. These two genes turn out proteins that down-regulate cyclin-dependent kinases, and have been the subject of some interest in melanoma and pancreatic cancer, but researchers had noticed no link between these two genes and diabetes up to now.

Perhaps the most interesting finding was a correlation between what was thought to be a genetic dead zone on chromosome 11 and diabetes. This area was thought to present no genes, and the speculation is that some factor in this area influences genes in other locations.

NIH director Elias Zerhouni, MD, said that this research is part of the overall advances toward personalized medicine and that "our current one-size-fits-all approach will soon give way to more individualized strategies based on each person's unique genetic make-up."

New emergency care guidance from CMS

The Centers for Medicare & Medicaid Services issued a new guidance designed to clarify rules regarding emergency services at hospitals that draw on the Medicare buck. Such hospitals will no longer be allowed to "rely on 9-1-1 services as a substitute for the hospital's own ability to provide theses services," according to the guidance.

The April 26 guidance reminds hospital administrators that "all hospitals are required to appraise medical emergencies, provide initial treatment and referral when appropriate, regardless of whether the hospital has an emergency department." However, this does not apply to critical access hospitals, which are typically located in rural areas and must comply with a separate set of regulations.

CMS requires that any Medicare-participating hospital have either a physician on site or on call 24 hours a day for emergency services, a requirement paralleled by one for registered nursing staff. However, the guidance allows hospitals to fulfill the staffing requirement for doctors by means of "medical direction of on-site staff [who are] conducting appraisals."

Acting CMS administrator Leslie Norwalk said in a prepared statement that all hospitals "participating in Medicare, regardless of the type of hospital and apart from whether the hospital has an emergency department, must have the capability to provide basic emergency care interventions." She described the guidance as "part of an overall strategy to ensure quality care by assuring the rapid response to emergencies for all people with Medicare." The guidance is in force immediately.

HHS to promote SNOMED CT

Alphabet soup lives on, and information technology (IT) produces as much as any industry. Combine IT with government, and you get SNOMED.

Last week, Health and Human Services (HHS) Secretary Mike Leavitt reported that the U.S. will take part in an effort to arrive at and promote a set of standards for clinical terminology for electronic health records. As a charter member of the new International Health Terminology Standards Development Organization (IHT SDO), the U.S. government will put its considerable weight behind development and adoption of the Systemized Nomenclature of Medicine Clinical Terms (SNOMED CT), which was assembled by the College of American Pathologists (CAP; Northfield, Illinois).

Among the other charter members of IHT SDO are nations whose citizens are proficient in the English language, including Australia, Canada, New Zealand and the UK. The remainder, Denmark, Lithuania, the Netherlands and Sweden, will present translational challenges to any such system.

In a prepared statement, Leavitt said that the standardized terminology "will enable the use of health information across borders, facilitate public health surveillance and support evidence-based research."

Since 2003, CAP licensed its SNOMED standards free of charge by means of an agreement with the National Library of Medicine (NLM), which will continue to distribute the software. NLM pays an annual fee of about $5.5 million to CAP for SNOMED CT.

Robert Kolodner, MD, National Coordinator for Health Information Technology for HHS, said that a single-site license "will cover all types of use in both member and non-member countries, with fees applying only to some types of distribution or use in non-member countries."