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New Gene Tests Can Predict if a Drug Will Work for a Patient

New Gene Tests Can Predict if a Drug Will Work for a Patient
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United statesUniversity of floridaUniversity of pennsylvaniaSouth dakotaRhode islandStanford universitySan franciscoNew jerseyNorth chicagoEmilyj cicaliJessica wrightKristin wiisanenKelly caudleTeri kleinSciences at stClinical pharmacogenetics implementation consortium

New Tool Improves Classification of Inherited Disease Genes

New Tool Improves Classification of Inherited Disease Genes
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University of pennsylvaniaUnited statesSharonj diskinJung kimPathogenicity autoJo lynne rokitaDivision of cancer epidemiologyHealth informaticsNational institutes of healthDivision of neurosurgeryAmerican college of medical geneticsPerelman school of medicineNational cancer instituteIntramural researchChildren brain tumor networkJournal of the national cancer institute

Researchers develop new tool for better classification of inherited disease-causing variants

Researchers from Children s Hospital of Philadelphia (CHOP), the Perelman School of Medicine at the University of Pennsylvania, and the National Cancer Institute (NCI) of the National Institutes of Health have developed a new tool that allows scientists to annotate variant data from large-scale studies with clinically-focused classifications for risk of childhood cancer and other diseases. This new tool brings older applications in line with current guidelines and is available for use—for free—in the research community. The tool was described in a paper recently published in the journal Bioinformatics.

United statesUniversity of pennsylvaniaJung kimPathogenicity autoJo lynne rokitaSharonj diskinPerelman school of medicineAssociation for molecular pathologyAmerican college of medical geneticsHealth informaticsJournal of the national cancer instituteDivision of cancer epidemiologyChildren brain tumor networkDepartment of biomedicalNational cancer instituteNational institutes of health

FDA Finally Moves to Scrutinize Specialized Health Screenings

The agency issued a rule that brings new scrutiny to a range of critical lab-developed tests, including certain cancer and prenatal screenings. ProPublica previously reported how lab-test accuracy and marketing had skirted federal oversight.

United statesCara tenenbaumPeter lurieRobert califfLaurie menserWhile the centers for medicareVeterans health administrationAssociation for molecular pathologyDepartment of defenseDrug administrationMedicaid servicesPublic interestMolecular pathologyPew charitable trusts

AMP v Myriad Genetics: Do intellectual property protections really stifle innovation?

As the Supreme Court debates the patentability of human genes, the media argues about whether patents help or hinder genetic research. The Genetic Literacy Project asserts that when public access and private interests are balanced, intellectual property protection can play an important role in spurring innovation.

Glyn moodyCraig venterBrian fungDaniel fisherHeidi williamsOskar liivakSupreme courtNational journalAssociation for molecular pathologyCornell law schoolCelera genomicsMolecular pathologyMyriad geneticsHuman genome projectPolitical economyTech dirt