Volume 34 Number 21 May 28 - June 4, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Advances in muscular dystrophies.
Kang Peter B et al. JAMA Neurol 2015 May 18.
Kang Peter B et al. JAMA Neurol 2015 May 18.
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Rudnik-Schöneborn S et al. Eur. J. Hum. Genet. 2015 May 20.
Rudnik-Schöneborn S et al. Eur. J. Hum. Genet. 2015 May 20.
Neonatal diagnosis of Down syndrome in The Netherlands: suspicion and communication with parents.
de Groot-van der Mooren MD et al. J Intellect Disabil Res 2014 Oct 58(10) 953-61
de Groot-van der Mooren MD et al. J Intellect Disabil Res 2014 Oct 58(10) 953-61
The impact of chromosomal microarray on clinical management: a retrospective analysis.
Henderson LB et al. Genet. Med. 2014 Sep 16(9) 657-64
Henderson LB et al. Genet. Med. 2014 Sep 16(9) 657-64
Cancer
Barriers prevent patient access to personalized therapies identified by molecular tumor profiling of gynecologic malignancies.
Hillman RT et al. J Pers Med 5(2) 165-173
Hillman RT et al. J Pers Med 5(2) 165-173
Broad applicability of nivolumab in melanoma regardless of BRAF mutation status
Gangadhar TC et al. JAMA Oncol. May 21, 2015
Gangadhar TC et al. JAMA Oncol. May 21, 2015
Clinical utility of a novel urine-based gene fusion TTTY15-USP9Y in predicting prostate biopsy outcome.
Zhu Y et al. Urol. Oncol. 2015 May 22.
Zhu Y et al. Urol. Oncol. 2015 May 22.
Committee opinion no. 634: hereditary cancer syndromes and risk assessment.
Obstet Gynecol 2015 Jun 125(6) 1538-43
Obstet Gynecol 2015 Jun 125(6) 1538-43
Gene-panel sequencing and the prediction of breast-cancer risk
Easton DF, et al. New England Journal of Medicine 2015 May 27
Easton DF, et al. New England Journal of Medicine 2015 May 27
Efficacy and safety of nivolumab in patients with BRAF V600 mutant and BRAF wild-type advanced melanoma
Larkin J, et al. JAMA Oncol. May 21, 2015
Larkin J, et al. JAMA Oncol. May 21, 2015
Family history and outcome of young patients with breast cancer in the UK (POSH study).
Eccles BK et al. Br J Surg 2015 May 20.
Eccles BK et al. Br J Surg 2015 May 20.
Getting personal: Head and neck cancer management in the era of genomic medicine.
Birkeland AC et al. Head Neck 2015 May 20.
Birkeland AC et al. Head Neck 2015 May 20.
Integrative clinical genomics of advanced prostate cancer.
Robinson D et al. Cell 2015 May 21. 161(5) 1215-28
Robinson D et al. Cell 2015 May 21. 161(5) 1215-28
Lung cancer in the era of precision medicine.
Politi K et al. Clin. Cancer Res. 2015 May 15. 21(10) 2213-20
Politi K et al. Clin. Cancer Res. 2015 May 15. 21(10) 2213-20
OncoRep: an n-of-1 reporting tool to support genome-guided treatment for breast cancer patients using RNA-sequencing.
Meißner T et al. BMC Med Genomics 2015 8(1) 24
Meißner T et al. BMC Med Genomics 2015 8(1) 24
Public interest in and acceptability of the prospect of risk-stratified screening for breast and prostate cancer.
Koitsalu M et al. Acta Oncol 2015 May 20. 1-7
Koitsalu M et al. Acta Oncol 2015 May 20. 1-7
Socio-ethical issues in personalized medicine: A systematic review of English language health technology assessments of gene expression profiling tests for breast cancer prognosis.
Ali-Khan SE et al. Int J Technol Assess Health Care 2015 May 20. 1-15
.Ali-Khan SE et al. Int J Technol Assess Health Care 2015 May 20. 1-15
Trends in the cost and use of targeted cancer therapies for the privately insured nonelderly: 2001 to 2011.
Shih Ya-CT et al. J. Clin. Oncol. 2015 May 18.
Shih Ya-CT et al. J. Clin. Oncol. 2015 May 18.
Whole-genome characterization of chemoresistant ovarian cancer
Patch AM, et al. Nature 2015 May 28
Patch AM, et al. Nature 2015 May 28
Chronic Diseases
A detailed family history of myocardial infarction and risk of myocardial infarction - a nationwide cohort study.
Ranthe MF et al. PLoS ONE 10(5) e0125896
Ranthe MF et al. PLoS ONE 10(5) e0125896
Age-related macular degeneration: genome-wide association studies to translation
Black J, et al. Genetics in Medicine (2015) May 28
Black J, et al. Genetics in Medicine (2015) May 28
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Wiegman A et al. Eur. Heart J. 2015 May 25.
Wiegman A et al. Eur. Heart J. 2015 May 25.
Guidelines for presymptomatic testing for Huntington's disease: Past, present and future in France.
Clément S et al. Rev. Neurol. (Paris) 2015 May 19.
Clément S et al. Rev. Neurol. (Paris) 2015 May 19.
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement
Medeiros AM, et al. Genetics in Medicine (2015) May 28
Medeiros AM, et al. Genetics in Medicine (2015) May 28
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA et al. Genet Res (Camb) 2015 97e10
Rodríguez-Quiroga SA et al. Genet Res (Camb) 2015 97e10
Ethics, Policy and Law
Between personal and relational privacy: understanding the work of informed consent in cancer genetics in Brazil.
Goldim JR et al. J Community Genet 2015 May 22.
Goldim JR et al. J Community Genet 2015 May 22.
Timing and context: important considerations in the return of genetic results to research participants.
McBride KA et al. J Community Genet 2015 May 26.
McBride KA et al. J Community Genet 2015 May 26.
The 2014 Varsity Medical Ethics Debate: should we allow genetic information to be patented?
Metcalfe KHM et al. Philos Ethics Humanit Med 2015 May 20. 10(1) 8
Metcalfe KHM et al. Philos Ethics Humanit Med 2015 May 20. 10(1) 8
The FDA and genomic tests - getting regulation right
Evans BJ, et al. New England Journal of Medicine 2015 May 27
Evans BJ, et al. New England Journal of Medicine 2015 May 27
Genomics in Practice
ClinGen - the clinical genome resource
Rehm HL, et al. New England Journal of Medicine 2015 May 27
Rehm HL, et al. New England Journal of Medicine 2015 May 27
Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
Douglas MP et al. Genet. Med. 2015 May 21
Douglas MP et al. Genet. Med. 2015 May 21
Guidelines for audiologists on the benefits and limitations of genetic testing.
Mercer D et al. Am J Audiol 2015 May 20.
Mercer D et al. Am J Audiol 2015 May 20.
Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe.
Malentacchi F et al. Clin. Chem. Lab. Med. 2015 Apr 17.
Malentacchi F et al. Clin. Chem. Lab. Med. 2015 Apr 17.
Precision medicine - personalized, problematic, and promising
Jameson JL, et al. New England Journal of Medicine 2015 May 27
Jameson JL, et al. New England Journal of Medicine 2015 May 27
Newborn Screening
Diagnostic problems in cystic fibrosis - specific characteristics of a group of infants and young children diagnosed positive through neonatal screening, in whom cystic fibrosis had not been diagnosed.
Wos H et al. Dev Period Med 19(1) 25-31
Wos H et al. Dev Period Med 19(1) 25-31
Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.
Sands D et al. Dev Period Med 19(1) 16-24
Sands D et al. Dev Period Med 19(1) 16-24
Reproductive Health
Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing.
Walser SA et al. Prenat. Diagn. 2015 May 20.
Walser SA et al. Prenat. Diagn. 2015 May 20.
Look before you leap: genomic screening in obstetrics and gynecology.
Adams MC et al. Obstet Gynecol 2015 Jun 125(6) 1299-305
Adams MC et al. Obstet Gynecol 2015 Jun 125(6) 1299-305
Prenatal diagnosis of cystic fibrosis: 10-years experience.
Hadj FS et al. Pathol. Biol. 2015 May 19.
Hadj FS et al. Pathol. Biol. 2015 May 19.
Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis.
Fairbrother G et al. J. Matern. Fetal. Neonatal. Med. 2015 May 22. 1-5
Fairbrother G et al. J. Matern. Fetal. Neonatal. Med. 2015 May 22. 1-5
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus
Girardet A, et al. European Journal of Human Genetics 2015 May 27
Girardet A, et al. European Journal of Human Genetics 2015 May 27
Reviews, News and Commentaries
Information theory: Knowledge and know-how
Ball P, Nature 521, 420?421 (28 May 2015)
Ball P, Nature 521, 420?421 (28 May 2015)
The future of genomic medicine education in Africa
Geoffrey H Siw, et al. Genome Medicine 2015, 7:47
Geoffrey H Siw, et al. Genome Medicine 2015, 7:47
Epigenetics-A new frontier for alcohol research
Alcohol Alert Number 86. National Institute on Alcohol Abuse and Alcoholism
Alcohol Alert Number 86. National Institute on Alcohol Abuse and Alcoholism
The new genomic patient.
Rehmann-Sutter C et al. Swiss Med Wkly 2015 145w14089
Rehmann-Sutter C et al. Swiss Med Wkly 2015 145w14089
DNA Counseling In The Age of Genomics, by Yoni Maisel, CVID, Primary Immune and Rare Disease Blog, May 26
by Yoni Maisel, CVID, Primary Immune and Rare Disease Blog, May 26Genes and environment balance each other, by Tina Hesman Saey, Science News, May 26
by Tina Hesman Saey, Science News, May 26Targeting cystic fibrosis: Are two drugs better than one? By Dr. Francis Collins, NIH Director?s Blog, May 26
By Dr. Francis Collins, NIH Director?s Blog, May 26Diving in the gene pool: DNA, drosophila flies and adoptees' discoveries, by Kate Nancarrow, The Age, May 25
by Kate Nancarrow, The Age, May 25Ovarian cancer-specific markers set the stage for early diagnosis, personalized treatments, by Heather Buschman, May 25
by Heather Buschman, May 25Sequencing cancer DNA - what are the issues? NHS Genomics Education Programme, May 25
NHS Genomics Education Programme, May 25At big data in biomedicine, Stanford's Lloyd Minor focuses on precision health, by Becky Bach, Scope Blog, May 22
by Becky Bach, Scope Blog, May 22What if? Scottish Cancer Prevention Network Blog, May 11
Scottish Cancer Prevention Network Blog, May 11Tools and Databases
The Lausanne Institutional Biobank: a new resource to catalyse research in personalised medicine and pharmaceutical sciences.
Mooser V al. Swiss Med Wkly 2014 144w14033
Mooser V al. Swiss Med Wkly 2014 144w14033
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