Published on 05/27/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Longitudinal investigation of the relationship between family history of psychosis and affective disorders and Child Behavior Checklist ratings in clinical high-risk adolescents.
Simeonova Diana I et al. Schizophr. Res. 2015 May 14. -
Utility of a Paediatric Bleeding Questionnaire as a screening tool for von Willebrand disease in apparently healthy children.
Mittal N et al. Haemophilia 2015 May 16. -
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
Dai Yi et al. Neuromuscul. Disord. 2015 Mar 17. -
ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents.
Rubio-Cabezas Oscar et al. Pediatr Diabetes 2014 Sep 15 Suppl 2047-64 -
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
Wainwright Claire E, et al. The New England journal of medicine 2015 0 0. (3) 220-31
Cancer
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Is the current diagnostic algorithm reliable for selecting cases for EGFR- and KRAS-mutation analysis in lung cancer?
Vincenten Julien P L et al. Lung Cancer 2015 Apr 20. -
Experiences of Women Who Underwent Predictive BRCA 1/2 Mutation Testing Before the Age of 30.
Brunstrom Kate et al. J Genet Couns 2015 May 19. -
A Follow-Up Community Survey of Knowledge and Beliefs About Cancer and Genetics.
Sweeney Shannon M et al. J Cancer Educ 2015 May 15. -
Family risk discussions after feedback on genetic risk of melanoma.
Hay Jennifer L et al. JAMA Dermatol 2015 Mar 151(3) 342-3 -
Psychological distress related to BRCA testing in ovarian cancer patients.
Bjornslett Merete et al. Fam. Cancer 2015 May 16. -
Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry.
Menes Tehillah S et al. Breast Cancer Res. Treat. 2015 May 15. -
Recent Enhancements to the Genetic Risk Prediction Model BRCAPRO.
Mazzola Emanuele et al. Cancer Inform 2015 14(Suppl 2) 147-57 -
Gene Mutation Profiling of Breast Cancers for Clinical Decision Making: Drivers and Passengers in the Cart Before the Horse.
Stearns Vered, et al. JAMA oncology 2015 8 0. (5) 569-70
Chronic Disease
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Perception of Genetic Testing for Deafness and Factors Associated with Interest in Genetic Testing Among Deaf People in a Selected Population in Sub-Saharan Africa.
Adedokun Babatunde O et al. J Genet Couns 2015 May 19. -
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Waldmüller Stephan et al. Mol. Cell. Probes 2015 May 12.
Ethics/Policy/Law
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Understanding of research, genetics and genetic research in a rapid ethical assessment in north west Cameroon.
Kengne-Ouafo Jonas A et al. Int Health 2015 May 12.
Practice
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Personalized decision support system based on clinical practice guidelines.
Douali Nassim et al. Stud Health Technol Inform 2015 211308-10 -
Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool.
Sohani Zahra N et al. BMC Genet. 2015 16(1) 50 -
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor Jenny C et al. Nat. Genet. 2015 May 18. -
Project brings whole genome sequencing into the clinic,
NHS, May 18 -
To every disease there is a season? What our genes tell us,
by David Warmflash, Genetic Literacy Project, May 18
Newborn Screening
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[New recommendations for the Dutch neonatal screening programmeA report from the Health Council of the Netherlands].
Cornel M C et al. Ned Tijdschr Geneeskd 2015 159(0) A9115 -
Biomedicine. Newborn screening collides with privacy fears.
Couzin-Frankel Jennifer et al. Science 2015 May 15. 348(6236) 740-1
Pharmacogenomics
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Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.
Hicks J Kevin et al. Clin. Pharmacol. Ther. 2015 May 13. -
To the Editor: Clinical utility of warfarin pharmacogenomics.
Smith D Max et al. Cleve Clin J Med 2015 May 82(5) 268-9 -
Cost-effectiveness of one-time genetic testing to minimize lifetime adverse drug reactions.
Alagoz O et al. Pharmacogenomics J. 2015 May 19.
Reproductive Health
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Effectiveness of Prenatal Screening for Hemoglobinopathies in a Developing Country.
Choudhuri Soumita et al. Hemoglobin 2015 May 13. 1-4 -
Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.
Benn Peter et al. Prenat. Diagn. 2015 May 13. -
Predictive performance of a seven-plex antibody array in prenatal screening for down syndrome.
Pennings Jeroen L A et al. Dis. Markers 2015 2015519851
News/ Reviews/Comments
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Two women, two results: The agonizing wait for cancer gene tests,
by Kate Snow, NBC News, May 19 -
Israel mulls setting up a population-scale genetic database,
by Nick Paul Taylor, Fierce Biotech IT, May 19 -
CRISPR battles on two fronts,
by Rebecca Burbidge, PHG Foundation, May 20 -
Weighing the promises of big genomics,
by David Dobbs, Buzz Feed, May 21 -
Precision medicine is here, break out your wallet.
Hafez Nabil, et al. Applied & translational genomics 2015 3 0. 14-5 -
Nutrigenomics: A controversy.
Pavlidis Cristiana, et al. Applied & translational genomics 2015 3 0. 50-3 -
Gene therapy for eye disease shows benefits and limitations,
NIH Research Matters, May 18 -
CMS unveils draft LCD for BRCA1 and BRCA2 genetic tests,
GEN News, May 18 -
David Sackett, the father of evidence-based medicine, dies at 80,
by Julia Belluz, Vox, May 15 -
U.S. introduces new DNA standard for ensuring accuracy of genetic tests,
by Robert Pearmay, New York Times, May 14 -
Rise of the superbugs?
By Dr Laura Blackburn, PHG Foundation, May 15 -
Doctors, parents try to unravel SCN8A gene's role in epilepsy,
by Michael Halpern, Scientific American Blog , May 18 -
I love them, I love them not?.. proposed revised medicare guidelines for coverage of BRCA testing,
by Robert Resta, The Eexchange, May 17 -
Human ingenuity takes on cancer?s Darwinian ways,
by George Johnson, New York Times, May 18 -
Hidden Errors: A watchdog report - Weak oversight allows lab failures to put patients at risk,
by Ellen Gabler of the Journal Sentinel staff -
Study looks at diagnostic utility of clinical whole-genome sequencing,
Genome Web, May 18 [by free subscription only]