Clinical OMICs - Issue 4 - (Page 7)

Jury's Still Out on Large Panel Genetic Testing cientists at the University of Pennsylvania's Abramson Cancer Center (ACC) say that the increasing use of large genetic testing panels is actually producing more questions than answers. In a study of 278 women with early onset breast cancer who did not have BRCA genes, the researchers found that only 2.5% of the patients had inherited mutations that were clinically actionable. The results indicate that experts don't yet know how to interpret most of the mutations discovered by massively parallel gene sequencing. Large genetic testing panels sometimes reveal mutations in genes that are associated with an increased risk in developing cancer. BRCA 1 and BRCA 2 genes are prime examples, where women can opt for mastec- at the University of Pennsylvania. tomies and ovary removal surgery. "It's crucial that we figure out the However, there is not yet guidance for right way to counsel women on these clinicians on how to care for patients issues, because it can really provoke a who exhibit other types of mutations, lot of anxiety for a patient when you such as CHEK2 and tell them, 'We found a ATM, which are called change in your DNA We found a change variants of unknown and we don't know in your DNA, and we don't what it means.'" significance. know what it means. "We're in a time The breast cancer where the testing patients studied by technology has outpaced what we the ACC team were all under the age know from a clinical standpoint. of 40 and not carriers of the BRCA1 There's going to be a lot of unknown or BRCA2 mutations. They also had variants that we're going to have to no family history of ovarian cancer. deal with as more patients undergo The researchers performed massively large genetic testing panels," said parallel gene sequencing to detect 22 Kara Maxwell, M.D., Ph.D., a fellow in known or proposed breast cancer susthe division of hematology-oncology ceptibility genes in each woman. in the Perelman School of Medicine (continued on p. 25) Urine Test Screens Patients for Blood Clots of California, San Diego, FPB has the potential for greater specificity. These findings were reported at the American Thoracic Society's 2014 International Conference, which took place May 16-21. The researchers, led by Timothy Fernandes, M.D., M.P.H., described how they conducted a pilot trial and evaluated FPB as a screening test for venous thromboembolism. The researchers used stored urine samples taken from 344 patients who participated in the Pulmonary Embolism Diagnosis Study (PEDS), a multicenter study of 1,417 patients considered likely to have an acute pulmonary embolism. For all urine samples, the researchers measured A potential complement to existing biomarkers of venous thromboembolism, fibrinopeptide B (FPB) is readily available in urine, unlike D-dimer, which must be obtained from blood. Besides helping patients avoid extra blood draws, FPB can give physicians a more complete picture of clot activity. FPB, a small peptide, is released when a thrombosis forms, whereas D-dimer, a protein fragment generated via fibrinolysis, is present in the blood only after a clot starts to degrade. Also, as demonstrated by researchers based at the University www.clinicalomics.com Photo © Darren Baker-Fotolia.com S Researchers at the University of California, San Diego have developed a urine-based test to measure for the presence and activity of venous thromboembolism. FPB concentration by competition the ELISA and evaluated the sensitivity and specificity of the test at various cut-off points in relation to its ability to predict the presence of venous thromboembolism. (continued on p. 26) May 29, 2014 Clinical OMICs 7 http://www.Fotolia.com http://www.clinicalomics.com

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Clinical OMICs - Issue 4