Prenatal SNP array testing is faster and can uncover smaller anomalies than karyotyping can, report Erasmus Medical Center's Malgorzata Srebniak and her colleagues in Molecular Cytogenetics. The researchers analyzed 207 cases of fetal structural abnormalities using an array and found clinically relevant problems in 24 of those cases. They say only eight of those 24 anomalies would have been picked up by karyotyping. "We propose to perform genomic high resolution array testing assisted by pre-test counseling as a primary prenatal diagnostic test after amniocentesis in cases of [fetal] ultrasound abnormalities," Srebniak et al. write.

As they report in Science Translational Medicine, the Scripps Translational Science Institute's Eric Topol and his colleagues have found that circulating endothelial cells from blood vessel linings might be diagnostic for acute myocardial infarctions. Using a three-channel fluorescence assay, the researchers were able to find that circulating endothelial cells from heart attack patients — who had more circulating endothelial cells than controls — had distinct morphology. "These cells shouldn't be in the blood. If you have them, you have trouble lurking," Topol tells the Los Angeles Times.

The researchers also note in Science Translational Medicine that "these distinctive cell characteristics may be useful in developing a refined biomarker for arterial injury" and, perhaps, an assay to predict heart attack risk, particularly as they appear in the blood a few days before any MI event. "This could be especially helpful for the many patients who come into emergency rooms every day complaining of vague chest-tightening or tingling sensations, but show no signs of the elevated heart enzymes that would indicate a heart attack," adds Time magazine's Healthland.

The US Supreme Court unanimously invalidated two patents held by Prometheus Laboratories, saying that they covered laws of nature, which cannot be patented. As our sister publication GeneomeWeb Daily News reports, the Prometheus "patents cover methods of determining proper dosing of thiopurine drugs for autoimmune diseases by correlating dosage levels of the drugs with the levels of certain metabolites in a patient's blood."

The patents had "the potential to really inhibit the practice of medicine," says Michael Watson, executive director of the American College of Medical Genetics, at The Chronicle of Higher Education. His group, as well as Association of American Medical Colleges, the American Medical Association, and others filed a friend-of-the-court brief supporting the patents' rejection, the Chronicle adds. The Association for Molecular Pathology also welcomed the decision, according to a press release from the group.

Other groups are not as supportive of the ruling. The Biotechnology Industry Organization's Hans Sauer has a blog post at BIOTechNow saying that the organization was "surprised and disappointed" in the ruling. In addition, Gerald Flattmann from the law firm Paul Hastings tells the Associated Press that the decision could affect other companies with similar personalized medicine patents. "One danger ... will be that courts misapply the decision as broadly requiring the invalidation of any claim that recites a law of nature as one of its steps," Flattman says.

In Modern Pathology this week, a team of US researchers characterize the distribution of immunomodulatory cells in the lungs of idiopathic pulmonary fibrosis patients. The team analyzed lung tissue from 21 idiopathic pulmonary fibrosis patients and 21 healthy controls to check for immune cell and inflammation-related markers. "There were significantly greater numbers of CD68+ and CD80+ cells and significantly fewer CD3+, CD4+, and CD45RO+ cells in areas of relatively (histologically) normal lung in biopsy samples from idiopathic pulmonary fibrosis patients compared with controls," the researchers found. "In zones of active disease, characterized by epithelial cell regeneration and fibrosis, there were significantly more cells expressing CD4, CD8, CD20, CD68, CD80, chemokine receptor 6 (CCR6), S100, IL-17, tumor necrosis factor-α, and retinoic acid-related orphan receptors compared with histologically normal lung areas from idiopathic pulmonary fibrosis patients." In addition, inflammation was implicated in these active regions, and regenerating epithelial cells predominantly expressed pro-inflammatory molecules.

Also in Modern Pathology this week, a team led by investigators at Indiana University School of Medicine present their review of 35 cases of extrathoracic metastases originating in the thymus. "Thymic tumors are categorized as types A, AB, B1, B2, B3, and thymic carcinoma," the team writes. "Thymomas are typically slow growing tumors that predominantly involve the surrounding structures through direct invasion, while thymic carcinomas tend to be more aggressive." However, they add, "The exact incidence of extrathoracic metastases from thymoma is not known." For this study, the researchers looked at 35 cases of documented metastatic thymomas and thymic carcinomas, and analyzed the clinical data and the differential diagnoses of the patients. "Our study shows that all types of thymic tumors, regardless of histologic type, can be associated with invasion and metastases to thoracic and extrathoracic sites," the team concludes.

Reporting on a new study on the molecular diagnostics marketplace from industry research and consulting firm Frost & Sullivan, Dark Daily's Pamela Scherer McLeod says that, "true to past predictions, the spectacular growth rates in molecular diagnostic tests and genetic assays will continue well into the future." According to McLeod, "Frost & Sullivan predicts that, by 2014, those revenues [from molecular diagnostic tests and genetic assays] will exceed $6.2 billion," and that the "compound annual growth rate is projected at more than 11 percent."

The report signals molecular diagnostics is "the fastest-growing sector of clinical pathology laboratory testing," McLeod says. Nearly 800 medical laboratories currently perform "high-volume testing requiring automated molecular diagnostic testing platforms and systems for simplifying and accelerating specimen preparation," she adds, and "the rapidly changing and increasingly competitive landscape of diagnostics continues to stimulate increased demand for molecular testing, particularly in the area of infectious disease."

Researchers led by Emory University School of Medicine's Bradford Coffee describe in the Journal of Molecular Diagnostics their real-time methylation-sensitive PCR assay, which they used to determine the methylation status of the SNRPN gene located within the Prader-Willi/Angelman syndrome critical region, as well as the parent-of-origin for the Prader-Willi/Angelman allele. "Q-MSP requires only a small amount of DNA, is amenable to high-throughput analysis, and can be used in clinical testing as a reflex test to determine the parent of origin after identification of a gain of this region on chromosome 15," Coffee and colleagues write.

Researchers from The Netherlands compared three methods — high-resolution melting assay followed by cycle sequencing, multiplex PCR assay followed by SNaPshot analysis, and an assay using HRM followed by SNaPshot — on their ability to test for KRAS and BRAF mutations in FFPE samples. In their analysis, the researchers found "the analytical sensitivity of HRM-SNaPshot was two-fold to four-fold higher than HRM-sequencing and multiplex mutation assay, respectively," they write.