Published on 08/20/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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The prevalence of sickle cell disease and its implication for newborn screening in Germany (Hamburg metropolitan area).
Grosse Regine et al. Pediatr Blood Cancer 2015 Aug 14. -
Sehgal index: A new index and its comparison with other complete blood count-based indices for screening of beta thalassemia trait in a tertiary care hospital.
Sehgal Kunal et al. Indian J Pathol Microbiol 58(3) 310-5 -
DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide.
Peprah Emmanuel K et al. Glob Heart 2015 Aug 11. -
Paediatric endocrinology: Paradigm shift in genetic testing for neonatal diabetes mellitus-new framework for clinical care.
Holmes David et al. Nat Rev Endocrinol 2015 Aug 18. -
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Valencia C Alexander et al. Front Pediatr 2015 367 -
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu Jonas et al. PLoS ONE 10(8) e0135189
Cancer
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Usefulness of Multigene Testing: Catching the Train That's Left the Station.
Swisher Elizabeth M et al. JAMA Oncol 2015 Aug 13. -
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
Currás-Freixes Maria et al. J. Med. Genet. 2015 Aug 12. -
The effect of personal medical history and family history of cancer on the uptake of risk-reducing salpingo-oophorectomy.
van der Aa Jessica E et al. Fam. Cancer 2015 Aug 12. -
Cost-effectiveness analysis of EGFR mutation testing and gefitinib as first-line therapy for non-small cell lung cancer.
Narita Yusuke et al. Lung Cancer 2015 Jul 26. -
Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch-like syndrome.
Katz Lior H et al. Clin. Genet. 2015 Aug 14. -
An internally and externally validated nomogram for predicting the risk of irinotecan-induced severe neutropenia in advanced colorectal cancer patients.
Ichikawa W et al. Br. J. Cancer 2015 May 12. 112(10) 1709-16 -
Clinical utility of a blood-based BRAF(V600E) mutation assay in melanoma.
Panka David J et al. Mol. Cancer Ther. 2014 Dec 13(12) 3210-8 -
Acceptability of, and Information Needs Regarding, Next-Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study.
Meiser Bettina et al. J Genet Couns 2015 Aug 12. -
Is There a Role for Oncotype Dx Testing in Invasive Lobular Carcinoma?
Conlon Niamh et al. Breast J 2015 Aug 14. -
Identification of Patients with Family History of Pancreatic Cancer - Investigation of an NLP System Portability.
Mehrabi Saeed et al. Stud Health Technol Inform 2015 216604-8 -
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Song Honglin et al. J. Clin. Oncol. 2015 Aug 10. -
Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
Desmond Andrea et al. JAMA Oncol 2015 Aug 13. -
The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers.
Cavanagh Helen et al. Hered Cancer Clin Pract 2015 13(1) 16
Chronic Disease
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Clinical Application of WHF-MOGE(S) Classification for Hypertrophic Cardiomyopathy.
Agarwal Anushree et al. Glob Heart 2015 Aug 11. -
Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.
Nalls Mike A et al. Lancet Neurol 2015 Aug 10. -
PTX3-based genetic testing for risk of aspergillosis after lung transplantation.
Cunha Cristina et al. Clin. Infect. Dis. 2015 Aug 10. -
Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy: A Nationwide Family Study in a Cohort of 3.9 Million Persons.
Ranthe Mattis F et al. Circulation 2015 Aug 14. -
Cascade screening of familial hypercholesterolemia must go on.
Galema-Boers J M H et al. Atherosclerosis 2015 Jul 11. 242(2) 415-417 -
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
Bu Fengxiao et al. J. Am. Soc. Nephrol. 2015 Aug 17.
Ethics/Policy/Law
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Extending the surrogacy analogy: applying the advance directive model to biobanks.
Solomon Stephanie et al. Public Health Genomics 2015 18(1) 1-10
Practice
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Implementation of health risk assessments with family health history: barriers and benefits.
Wu R Ryanne et al. Postgrad Med J 2015 Aug 12. -
Explaining, not just predicting, drives interest in personal genomics.
Meisel Susanne F et al. Genome Med 2015 7(1) 74 -
How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.
Mendes Álvaro et al. Eur. J. Hum. Genet. 2015 Aug 12. -
A Critical Need for Clinical Context in the Genomic Era.
MacRae Calum A et al. Circulation 2015 Aug 14. -
Preparing the next generation of genomicists: a laboratory-style course in medical genomics.
Linderman Michael D et al. BMC Med Genomics 2015 847 -
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.
Arora Shubhangi et al. J Genet Couns 2015 Aug 19. -
The effect of genetic test-based risk information on behavioral outcomes: A critical examination of failed trials and a call to action.
Austin Jehannine et al. Am. J. Med. Genet. A 2015 Aug 18. -
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health.
Guo Lining et al. Proc. Natl. Acad. Sci. U.S.A. 2015 Aug 17. -
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer Sarah L et al. Clin. Genet. 2015 Aug 18. -
Social determinants of family health history collection.
Hughes Halbert Chanita et al. J Community Genet 2015 Aug 18. -
Genetic professionals' views on genetic counsellors: a French survey.
Cordier Christophe et al. J Community Genet 2015 Aug 18. -
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Yanqiu et al. PLoS ONE 2015 10(8) e0133636 -
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Berg Jonathan S et al. Genet. Med. 2015 Aug 13. -
The Cancer Genomics Resource List 2014.
Zutter Mary M et al. Arch. Pathol. Lab. Med. 2015 Aug 139(8) 989-1008 -
Precision medicine: Beyond the inflection point.
Hawgood Sam et al. Sci Transl Med 2015 Aug 12. 7(300) 300ps17
Newborn Screening
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Governing population screening in an age of expansion: The case of newborn screening.
Miller Fiona Alice et al. Can J Public Health 106(4) e244-e248
Pharmacogenomics
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Evidence for Clinical Implementation of Pharmacogenomics in Cardiac Drugs.
Kaufman Amy L et al. Mayo Clin. Proc. 2015 Jun 90(6) 716-29
Reproductive Health
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Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
Westerfield Lauren E et al. Prenat. Diagn. 2015 Aug 15. -
Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection.
Wax Joseph R et al. J Clin Ultrasound 2015 Jan 43(1) 1-6 -
Non-invasive, serum DNA pregnancy testing leading to incidental discovery of cancer: A good thing?
Prasad Vinay et al. Eur. J. Cancer 2015 Aug 13. -
National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell-free DNA aneuploidy screening.
Robson Stephen J et al. Aust N Z J Obstet Gynaecol 2015 Aug 11.
Tools/Databases
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One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies.
Yuan Shuai et al. PLoS Comput. Biol. 2015 Aug 11(8) e1004448
News/ Reviews/Comments
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Why Public Health England should make the most of genomics,
by Dr Hilary Burton, PHG Foundation, Aug 17, 2015 -
Omic personality: implications of stable transcript and methylation profiles for personalized medicine.
Tabassum Rubina, et al. Genome medicine 2015 8 0. 88 -
In a former first family, cancer has a grim legacy,
by Denise Grady, New York Times, Aug 7, 2015 -
The growing importance of genomics for rare disease,
Genomics Education Programme, Aug 10, 2015 -
Could the DNA-editing CRISPR revolutionize medicine?
By Carina Storrs, CNN, Aug 12, 2015 -
Breast cancer genetic tests, beyond BRCA, can help personalize treatment plan,
by Kathryn Doyle, Genetic Literacy Project, Aug 14, 2015 -
We'll see you, anon,
The Economist, Aug 15, 2015 -
Anthem BCBS changes policy, deems NIPT medically necessary for average-, low-risk pregnancies,
Genome Web, Aug 12, 2015 [by free subscription only] -
REALIZE: Anacetrapib as a lipid-modifying therapy in patients with heterozygous familial hypercholesterolemia,
by Erin D. Michos, American College of Cardiology, Aug 14, 2015 -
Jimmy Carter's cancer: What a family history of cancer means for you,
by Elizabeth Cohen, CNN, Aug 18, 2015 -
Lung Cancer Drug and Companion Diagnostic Test Are Approved.
Voelker Rebecca et al. JAMA 2015 Aug 18. 314(7) 662 -
The many considerations of 'one health' genomics,
by Dr Chris Rands, PHG Foundation, Aug 18, 2015 -
Center for Medical Technology Policy Releases Reimbursement Guidelines for NGS Oncology Testing,
Genome Web, Aug 17, 2015 [by free subscription only] -
Special issue looks at whatÂ’s ahead in precision medicine,
PR Web, Aug 18, 2015 -
Defining the role of a medical geneticist,
by Liz Harley, Front Line Genomics, Aug 18, 2015 -
Our obsession with hereditary cancers didn't start when we discovered the breast cancer gene,
the Conversation, Aug 19, 2015