Whole-exome sequencing emerges as clinical diagnostic tool von Levenson, Deborah

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GTEx project maps wide range of normal human genetic variation

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Study Points to Value of Genetic Testing in Epilepsy: But genetic testing guidelines and insurance coverage are lacking

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Genome-wide cell free fetal DNA screening spots variations standard screening doesn't: Diagnostic testing data needed to validate results and prove accuracy

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Infants with cystic fibrosis still lag on some growth measures

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Few direct‐to‐consumer test users receive genetic counseling

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23andMe resumes giving consumers genetic health information: Company's tests for rare and common diseases aren't diagnostic

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Proposed federal legislation could compromise genetic privacy

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First drug to treat spinal muscular atrophy gets FDA approval: Costly injectable shown to stall debilitating muscle-wasting effects of rare genetic disorder

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Resolving different interpretations of gene variants boosts effective use of test results

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The U.S. FDA focuses on next-generation sequencing: Draft guidance proposals address potential standards for demonstrating analytical validity and criteria for FDA-recognized genet...

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Genetic discrimination lawsuit raises broader concerns about testing, privacy

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Genetic discrimination lawsuit raises broader concerns about testing, privacy: Case involves middle school student impacted by results of genetic screening test as newborn

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New Fragile X tests may improve research on the disorder

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Need for greater racial, ethnic diversity in genetic research

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Testing cell-free fetal DNA emerges as trisomy screen of choice: Informing women about selective use of test beyond fetal sex and common aneuploidies is encouraged

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Role of inherited variants in nonsyndromic heart defects confirmed: Broad study identifies variants that cause syndromic disease

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Genetic Discrimination Lawsuit Raises Broader Concerns About Testing, Privacy: Case Involves Middle School Student Impacted by Results of Genetic Screening Test as Newborn von Levenson, Deborah

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Gene therapy for severe combined immune deficiency poised for European approval

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23andMe markets carrier screening service directly to consumers: Service offers results on carrier status, raises concerns among geneticists von Levenson, Deborah

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