Volume 35 Number 8 August 20-27, 2015
Birth Defects and Child Health
Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: A pediatric center's experience.
Valencia CA et al. Front Pediatr 2015 367
Valencia CA et al. Front Pediatr 2015 367
DMD mutations in 576 dystrophinopathy families: A step forward in genotype-phenotype correlations.
Juan-Mateu J et al. PLoS ONE 10(8) e0135189
Juan-Mateu J et al. PLoS ONE 10(8) e0135189
DS-Connect: A promising tool to improve lives and engage Down syndrome communities worldwide.
Peprah EK et al. Glob Heart 2015 Aug 11.
Peprah EK et al. Glob Heart 2015 Aug 11.
Paediatric endocrinology: Paradigm shift in genetic testing for neonatal diabetes mellitus-new framework for clinical care.
Holmes D et al. Nat Rev Endocrinol 2015 Aug 18.
Holmes D et al. Nat Rev Endocrinol 2015 Aug 18.
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 K et al. Indian J Pathol Microbiol 58(3) 310-5
Sehgal K et al. Indian J Pathol Microbiol 58(3) 310-5
The prevalence of sickle cell disease and its implication for newborn screening in Germany (Hamburg metropolitan area).
Grosse R et al. Pediatr Blood Cancer 2015 Aug 14.
Grosse R et al. Pediatr Blood Cancer 2015 Aug 14.
Cancer
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.
Meiser Bettina et al. J Genet Couns 2015 Aug 12.
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
Ichikawa W et al. Br. J. Cancer 2015 May 12. 112(10) 1709-16
Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment.
Desmond A, et al. JAMA Oncol. 2015 Aug 13.
Desmond A, et al. JAMA Oncol. 2015 Aug 13.
Clinical utility of a blood-based BRAF(V600E) mutation assay in melanoma.
Panka DJ et al. Mol. Cancer Ther. 2014 Dec 13(12) 3210-8
Panka DJ et al. Mol. Cancer Ther. 2014 Dec 13(12) 3210-8
Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population.
Song H, et al. J Clin Oncol. 2015 Aug 10. pii: JCO.2015.61.2408.
Song H, et al. J Clin Oncol. 2015 Aug 10. pii: JCO.2015.61.2408.
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.
Narita Yusuke et al. Lung Cancer 2015 Jul 26.
Identification of patients with family history of pancreatic cancer - investigation of an NLP system portability.
Mehrabi S et al. Stud Health Technol Inform 2015 216604-8
Mehrabi S et al. Stud Health Technol Inform 2015 216604-8
Is there a role for Oncotype Dx testing in invasive lobular carcinoma?
Conlon N et al. Breast J 2015 Aug 14.
Conlon N et al. Breast J 2015 Aug 14.
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
Currás-Freixes M et al. J. Med. Genet. 2015 Aug 12.
Currás-Freixes M et al. J. Med. Genet. 2015 Aug 12.
Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch-like syndrome.
Katz LH et al. Clin. Genet. 2015 Aug 14.
Katz LH et al. Clin. Genet. 2015 Aug 14.
The effect of personal medical history and family history of cancer on the uptake of risk-reducing salpingo-oophorectomy.
van der Aa JE et al. Fam. Cancer 2015 Aug 12.
van der Aa JE et al. Fam. Cancer 2015 Aug 12.
The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers.
Cavanagh H et al. Hered Cancer Clin Pract 2015 13(1) 16
Cavanagh H et al. Hered Cancer Clin Pract 2015 13(1) 16
Usefulness of multigene testing: Catching the train that's left the station.
Swisher EM JAMA Oncol. 2015 Aug 13.
Swisher EM JAMA Oncol. 2015 Aug 13.
Chronic Diseases
Cascade screening of familial hypercholesterolemia must go on.
Galema-Boers JMH et al. Atherosclerosis 2015 Jul 11. 242(2) 415-417
Galema-Boers JMH et al. Atherosclerosis 2015 Jul 11. 242(2) 415-417
Clinical application of WHF-MOGE(S) classification for hypertrophic cardiomyopathy.
Agarwal A et al. Glob Heart 2015 Aug 11.
Agarwal A 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 MA et al. Lancet Neurol 2015 Aug 10.
Nalls MA et al. Lancet Neurol 2015 Aug 10.
High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies.
Bu F et al. J. Am. Soc. Nephrol. 2015 Aug 17.
Bu F et al. J. Am. Soc. Nephrol. 2015 Aug 17.
PTX3-based genetic testing for risk of aspergillosis after lung transplantation.
Cunha C et al. Clin. Infect. Dis. 2015 Aug 10.
Cunha C 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 MF et al. Circulation 2015 Aug 14.
Ranthe MF et al. Circulation 2015 Aug 14.
Ethics, Policy and Law
Extending the surrogacy analogy: applying the advance directive model to biobanks.
Solomon S et al. Public Health Genomics 2015 18(1) 1-10
Solomon S et al. Public Health Genomics 2015 18(1) 1-10
Genomics in Practice
A critical need for clinical context in the genomic era.
MacRae CA et al. Circulation 2015 Aug 14.
MacRae CA et al. Circulation 2015 Aug 14.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Berg JS, et al. Genet Med. 2015 Aug 13.
Berg JS, et al. Genet Med. 2015 Aug 13.
Clinical and counseling experiences of early adopters of whole exome sequencing.
Arora S et al. J Genet Couns 2015 Aug 19.
Arora S et al. J Genet Couns 2015 Aug 19.
Explaining, not just predicting, drives interest in personal genomics.
Meisel SF et al. Genome Med 2015 7(1) 74
Meisel SF et al. Genome Med 2015 7(1) 74
Genetic professionals' views on genetic counsellors: a French survey.
Cordier C et al. J Community Genet 2015 Aug 18.
Cordier C et al. J Community Genet 2015 Aug 18.
How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.
Mendes Á et al. Eur. J. Hum. Genet. 2015 Aug 12.
Mendes Á et al. Eur. J. Hum. Genet. 2015 Aug 12.
Implementation of health risk assessments with family health history: barriers and benefits.
Wu RR et al. Postgrad Med J 2015 Aug 12.
Wu RR et al. Postgrad Med J 2015 Aug 12.
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health.
Guo L et al. Proc. Natl. Acad. Sci. U.S.A. 2015 Aug 17.
Guo L et al. Proc. Natl. Acad. Sci. U.S.A. 2015 Aug 17.
Precision medicine: Beyond the inflection point.
Hawgood S et al. Sci Transl Med 2015 Aug 12. 7(300) 300ps17
Hawgood S et al. Sci Transl Med 2015 Aug 12. 7(300) 300ps17
Preparing the next generation of genomicists: a laboratory-style course in medical genomics.
Linderman MD et al. BMC Med Genomics 2015 847
Linderman MD et al. BMC Med Genomics 2015 847
Social determinants of family health history collection.
Hughes HC et al. J Community Genet 2015 Aug 18.
Hughes HC et al. J Community Genet 2015 Aug 18.
Targeted next-generation sequencing for clinical diagnosis of 561 Mendelian diseases.
Liu Y, et al. PLoS One. 2015 Aug 14;10(8):e0133636.
Liu Y, et al. PLoS One. 2015 Aug 14;10(8):e0133636.
The cancer genomics resource list 2014.
Zutter MM et al. Arch. Pathol. Lab. Med. 2015 Aug 139(8) 989-1008
Zutter MM et al. Arch. Pathol. Lab. Med. 2015 Aug 139(8) 989-1008
The effect of genetic test-based risk information on behavioral outcomes: A critical examination of failed trials and a call to action.
Austin J et al. Am. J. Med. Genet. A 2015 Aug 18.
Austin J et al. Am. J. Med. Genet. A 2015 Aug 18.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL et al. Clin. Genet. 2015 Aug 18.
Sawyer SL et al. Clin. Genet. 2015 Aug 18.
Newborn Screening
Governing population screening in an age of expansion: The case of newborn screening.
Miller FA et al. Can J Public Health 106(4) e244-e248
Miller FA et al. Can J Public Health 106(4) e244-e248
Pharmacogenomics
Evidence for clinical implementation of pharmacogenomics in cardiac drugs.
Kaufman AL et al. Mayo Clin. Proc. 2015 Jun 90(6) 716-29
Kaufman AL et al. Mayo Clin. Proc. 2015 Jun 90(6) 716-29
Reproductive Health
It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.
Wilfond BS, et al. Mol Genet Genomic Med. 2015 Jul;3(4):239-42.
Wilfond BS, et al. Mol Genet Genomic Med. 2015 Jul;3(4):239-42.
National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell-free DNA aneuploidy screening.
Robson SJ et al. Aust N Z J Obstet Gynaecol 2015 Aug 11.
Robson SJ et al. Aust N Z J Obstet Gynaecol 2015 Aug 11.
Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection.
Wax JR et al. J Clin Ultrasound 2015 Jan 43(1) 1-6
Wax JR 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 V et al. Eur. J. Cancer 2015 Aug 13.
Prasad V et al. Eur. J. Cancer 2015 Aug 13.
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
Westerfield LE et al. Prenat. Diagn. 2015 Aug 15.
Westerfield LE et al. Prenat. Diagn. 2015 Aug 15.
Reviews, News and Commentaries
Lung cancer drug and companion diagnostic test are approved.
Voelker R et al. JAMA 2015 Aug 18. 314(7) 662
Voelker R et al. JAMA 2015 Aug 18. 314(7) 662
Omic personality: implications of stable transcript and methylation profiles for personalized medicine
Tabassum R, et al. Genome Medicine 2015, 7:88 Aug 13
Tabassum R, et al. Genome Medicine 2015, 7:88 Aug 13
Our obsession with hereditary cancers didn’t start when we discovered the breast cancer gene, the Conversation, Aug 19
the Conversation, Aug 19
Defining the role of a medical geneticist, by Liz Harley, Front Line Genomics, Aug 18
by Liz Harley, Front Line Genomics, Aug 18
Jimmy Carter's cancer: What a family history of cancer means for you, by Elizabeth Cohen, CNN, Aug 18
by Elizabeth Cohen, CNN, Aug 18
Special issue looks at what’s ahead in precision medicine, PR Web, Aug 18
PR Web, Aug 18
Center for Medical Technology Policy releases reimbursement guidelines for NGS oncology testing,Genome Web, Aug 17 [by free subscription only]
Genome Web, Aug 17 [by free subscription only]
The many considerations of 'one health' genomics, by Dr Chris Rands, PHG Foundation, Aug 18
by Dr Chris Rands, PHG Foundation, Aug 18
Why Public Health England should make the most of genomics, by Dr Hilary Burton, PHG Foundation, Aug 17
by Dr Hilary Burton, PHG Foundation, Aug 17
Peering into my own genome —Genomic sequencing held a surprise or two, but no scares, by Michael Smith, Medpage Today, Aug 16
by Michael Smith, Medpage Today, Aug 16
We’ll see you, anon, The Economist, Aug 15
The Economist, Aug 15
Breast cancer genetic tests, beyond BRCA, can help personalize treatment plan, by Kathryn Doyle, Genetic Literacy Project, Aug 14
by Kathryn Doyle, Genetic Literacy Project, Aug 14
REALIZE: Anacetrapib as a lipid-modifying therapy in patients with heterozygous familial hypercholesterolemia, by Erin D. Michos, American College of Cardiology, Aug 14
by Erin D. Michos, American College of Cardiology, Aug 14
Anthem BCBS changes policy, deems NIPT medically necessary for average-, low-risk pregnancies,Genome Web, Aug 12 [by free subscription only]
Genome Web, Aug 12 [by free subscription only]
Could the DNA-editing CRISPR revolutionize medicine? By Carina Storrs, CNN, Aug 12
By Carina Storrs, CNN, Aug 12
New method improves detection of causal genes, by Rebecca Burbidge, PHG Foundation, Aug 11
by Rebecca Burbidge, PHG Foundation, Aug 11
Obesity gene? Gene discovered that could be an important cause of obesity, Science Daily, Aug 10
Science Daily, Aug 10
The growing importance of genomics for rare disease, Genomics Education Programme, Aug 10
Genomics Education Programme, Aug 10
In a former first family, cancer has a grim legacy, by Denise Grady, New York Times, Aug 7
by Denise Grady, New York Times, Aug 7
Maximizing your health data, by Katy Human, Genome, Summer 2015
by Katy Human, Genome, Summer 2015Tools and Databases
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 S, et al. PLoS Comput Biol. 2015 Aug 12;11(8):e1004448.
Yuan S, et al. PLoS Comput Biol. 2015 Aug 12;11(8):e1004448.
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