“March 7, 2005 Intelligence: Late Breaking Lab News”

It was good news for the nine-year old boy with the rare brain tumor he named “Frankstein.” On midnight, Monday, February 14, 2005, the family received a telephone call from the surgeon who performed the biopsy on February 2, 2005. He confirmed that the biopsy was negative for cancer. What is interesting about the lengthy delay in reporting this to the family is that the pathology department of Cedars-Sinai Medical Center decalcified the specimen and completed the diagnosis in just 48 hours. It had e-mailed the pathology results to the referring physician on February 4, 2005. This story had become national news because, following chemotherapy, the family lacked funds to pay for a conclusive, specialized biopsy. To raise the money, the boy’s parents were selling a bumper sticker on E- Bay that read “Frank Must Die.” (See TDR, Feb. 14, 2005.)


Bio-Rad Laboratories, Inc. has received FDA clearance to market a rapid test that can detect both HIV-1 and HIV-2 viruses. This is the first rapid test for both HIV types to receive clearance in the U.S.


“HapMap” is an international effort involving research scientists in many organizations with a common goal: to create a haplotype map of human genetic variation. Haplotype describes a pattern of associated SNPs (single nucleotide polymorphisms). SNPs are expected to account for many differences between individuals. SNPs are genetic variations between individuals that may involve just one base pair in a sequence of DNA. As happened in the mapping of the human genome, new technologies are making it faster and cheaper to scan genomes and identify SNPs and haplotypes. The leading firm in this effort is Perlegen Sciences, Inc., based in Mountain Park, California. Over five years, it has produced a proprietary data base of 1.6 million SNPs.

ADD TO: HapMap

Now, in a move evocative of Celera Inc. during the race to map the human genome, Perlegen has offered to integrate its own SNP into the HapMap project. Further, by years-end it expects to con- tribute a total of four million SNPs to HapMap. The company is scanning 270 genomes used as a reference by HapMap researchers. These scans reveal the frequency with which various SNPs appear across populations. This data is needed to then conduct disease studies. This data is expected to open up the field of personalized medicine, including pharmacogenomics and theranostics. It will lead to a new generation of diagnostic tests.


It’s a startling prediction. Health analysts at the Centers for Medicare and Medicaid Services (CMS) recently published a study that projects that, by 2014, the government will be paying 49% of all healthcare costs in the United States. Published in Health Affairs, actuaries at CMS attribute a significant part of increased costs to Medicare’s new program to cover prescription drugs. Currently, government pays 46%. The share government paid was 43% in 1980 and 38% in 1970.


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