Volume 35 Number 12 September 17-24, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
American Society of Human Genetics updates guidance on genetic testing in children: Group addresses predictive genetic testing, use of secondary findings from genomic sequencing tests.
Am. J. Med. Genet. A 2015 Oct 167(10) viii-ix
Am. J. Med. Genet. A 2015 Oct 167(10) viii-ix
Genetic testing for pediatric epilepsy can be complicated, but beneficial, Medical Xpress, September 9, 2015
Medical Xpress, September 9, 2015Genomic intensive care: should we perform genome testing in critically ill newborns?
Wilkinson DJ et al. Arch. Dis. Child. Fetal Neonatal Ed. 2015 Sep 14.
Wilkinson DJ et al. Arch. Dis. Child. Fetal Neonatal Ed. 2015 Sep 14.
Obtaining genetic testing in pediatric epilepsy.
Ream MA et al. Epilepsia 2015 Sep 8.
Ream MA et al. Epilepsia 2015 Sep 8.
Professionally responsible disclosure of genomic sequencing results in oediatric practice.
McCullough LB et al. Pediatrics 2015 Sep 14.
McCullough LB et al. Pediatrics 2015 Sep 14.
Cancer
A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project.
La Verde N et al. Tumori 2015 Sep 10. 0(0) 0
La Verde N et al. Tumori 2015 Sep 10. 0(0) 0
Certified genetic counselors: A crucial clinical resource in the management of patients with suspected hereditary cancer syndromes.
Ali-Khan CZ et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 653-66
Ali-Khan CZ et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 653-66
Discussing genetic testing with patients with breast cancer in developing countries: Should we be judicious?
Hafeez BAB et al. J. Clin. Oncol. 2015 Sep 14.
Hafeez BAB et al. J. Clin. Oncol. 2015 Sep 14.
Impact of genetic counseling in women with a family history of breast cancer in Italy.
Godino L et al. J Genet Couns 2015 Sep 10.
Godino L et al. J Genet Couns 2015 Sep 10.
Improving patient outcomes with cancer genomics: Unique opportunities and challenges in pediatric oncology.
Schnepp RW et al. JAMA 2015 Sep 1. 314(9) 881-3
Schnepp RW et al. JAMA 2015 Sep 1. 314(9) 881-3
Securing and documenting cancer family history in the age of the electronic medical record.
Venne VL et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 639-52
Venne VL et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 639-52
Chronic Diseases
Challenges in the diagnosis and treatment of homozygous familial hypercholesterolemia.
Ito MK et al. Drugs 2015 Sep 14.
Ito MK et al. Drugs 2015 Sep 14.
Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit.
Pang J et al. J Clin Lipidol 9(5) 703-8
Pang J et al. J Clin Lipidol 9(5) 703-8
Optimal treatment using statins from childhood in heterozygous familial hypercholesterolemia.
Nohara A et al. J. Atheroscler. Thromb. 2015 Sep 15.
Nohara A et al. J. Atheroscler. Thromb. 2015 Sep 15.
Universal screening for familial hypercholesterolemia in children.
Klancar G et al. J. Am. Coll. Cardiol. 2015 Sep 15. 66(11) 1250-7
Klancar G et al. J. Am. Coll. Cardiol. 2015 Sep 15. 66(11) 1250-7
Ethics, Policy and Law
21st-century healthcare policy and the regulation of laboratory-developed tests.
Caldwell L et al. Genet Test Mol Biomarkers 2015 Sep 19(9) 467-8
Caldwell L et al. Genet Test Mol Biomarkers 2015 Sep 19(9) 467-8
Confidentiality & the risk of genetic discrimination: What surgeons need to know.
Gammon A et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 667-81
Gammon A et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 667-81
Genetic testing of stored tissue from a deceased person to define a relative's disease risk: Legal and ethical viewpoints.
Skene L et al. J Law Med 2015 Jun 22(4) 864-70
Skene L et al. J Law Med 2015 Jun 22(4) 864-70
Patenting genetic diagnostic methods: NGS, GWAS, SNPs and patents.
Lawson C et al. J Law Med 2015 Jun 22(4) 846-63
Lawson C et al. J Law Med 2015 Jun 22(4) 846-63
Stability of attitudes to the ethical issues raised by the return of incidental genomic research findings in children: A follow-up study.
Fernandez CV et al. Public Health Genomics 2015 Sep 10.
Fernandez CV et al. Public Health Genomics 2015 Sep 10.
Genomics in Practice
Discussing the implications of genetic testing with patients.
Sorscher SM et al. J. Clin. Oncol. 2015 Sep 14.
Sorscher SM et al. J. Clin. Oncol. 2015 Sep 14.
Genetic counselors' perspectives and practices regarding expanded carrier screening after initial clinical availability.
Lazarin GA et al. J Genet Couns 2015 Sep 10.
Lazarin GA et al. J Genet Couns 2015 Sep 10.
Patients' attitudes towards disclosure of genetic test results to family members: The impact of patients' sociodemographic background and counseling experience.
Gilbar R et al. J Genet Couns 2015 Sep 14.
Gilbar R et al. J Genet Couns 2015 Sep 14.
Sequence variants of uncertain significance: What to do when genetic test results are not definitive.
Greenblatt MS et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 833-46
Greenblatt MS et al. Surg. Oncol. Clin. N. Am. 2015 Oct 24(4) 833-46
ASHG issues statement supporting licensure of genetic counselors, the American Society of Human Genetics, September 10, 2015
the American Society of Human Genetics, September 10, 2015Pharmacogenomics
A template for authoring and adapting genomic medicine content in the eMERGE infobutton project.
Overby CL et al. AMIA Annu Symp Proc 2014 2014944-53
Overby CL et al. AMIA Annu Symp Proc 2014 2014944-53
Metabolic phenotype prediction from genotyping data: a bottleneck for the implementation of pharmacogenetics in drug development and clinical practice.
LLerena Adrián et al. Drug Metabol Personal Ther 2015 Sep 1. 30(3) 143-5
LLerena Adrián et al. Drug Metabol Personal Ther 2015 Sep 1. 30(3) 143-5
PharmGKB summary: ibuprofen pathways.
Mazaleuskaya LL et al. Pharmacogenet. Genomics 2015 Feb 25(2) 96-106
Mazaleuskaya LL et al. Pharmacogenet. Genomics 2015 Feb 25(2) 96-106
Will personalized drugs for cardiovascular disease become an option? - Defining 'Evidence-based personalized medicine' for its implementation and future use.
de Denus S et al. Expert Opin Pharmacother 2015 Sep 15. 1-4
de Denus S et al. Expert Opin Pharmacother 2015 Sep 15. 1-4
Reproductive Health
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
Martin J et al. Fertil. Steril. 2015 Sep 3.
Martin J et al. Fertil. Steril. 2015 Sep 3.
First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing.
Kagan KO et al. Ultrasound Obstet Gynecol 2015 Jan 45(1) 42-7
Kagan KO et al. Ultrasound Obstet Gynecol 2015 Jan 45(1) 42-7
UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake.
Gil MM et al. Ultrasound Obstet Gynecol 2015 Jan 45(1) 67-73
Gil MM et al. Ultrasound Obstet Gynecol 2015 Jan 45(1) 67-73
Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing.
Williams J et al. Am. J. Obstet. Gynecol. 2015 Jul 213(1) 102.e1-6
Williams J et al. Am. J. Obstet. Gynecol. 2015 Jul 213(1) 102.e1-6
Reviews, News and Commentaries
Money matters: shaping the use of genomics in the NHS, by Dr Gurdeep Sagoo, PHG Foundation, September 17, 2015
by Dr Gurdeep Sagoo, PHG Foundation, September 17, 2015Undiagnosed Diseases Network launches online application portal, NIH News, September 16, 2015
NIH News, September 16, 2015Who should decide? The complex ethics of pediatric genome sequencing, by Bruce Agnew, NHGRI, September 14, 2015
by Bruce Agnew, NHGRI, September 14, 2015Screening all women for breast cancer genes not feasible: Study, Health Day, September 11, 2015
Health Day, September 11, 2015Why I'm sceptical about the idea of genetically inherited trauma, by Ewan Birney, the Guardian, September 11, 2015
by Ewan Birney, the Guardian, September 11, 2015Why you shouldn’t know too much about your own genes, by Carolyn Johnson, Washington Post, September 11, 2015
by Carolyn Johnson, Washington Post, September 11, 2015AGA recommends all patients with colorectal cancer get tested for Lynch syndrome, American Gastroenterological Association, September 10, 2015
American Gastroenterological Association, September 10, 2015CRISPR genome editing 'an important tool', BBC News, September 10, 2015
BBC News, September 10, 2015Pathway launches 'liquid biopsy' to find cancer in healthy people, by Julie Steenhuysen, Reuters, September 10, 2015
by Julie Steenhuysen, Reuters, September 10, 2015Secrets of longevity may lie in long-lived smokers, a ‘biologically distinct’ group with extraordinary gene variants, by Ariana Eunjung Cha, Washington Post, September 10
by Ariana Eunjung Cha, Washington Post, September 10Sifting DNA databases for the right diagnosis, by Michelle Cortez, Bloomberg, September 10, 2015
by Michelle Cortez, Bloomberg, September 10, 2015What is genome editing and how does it work? By Kate Arkless Gray, Wellcome Trust Blog, September 10, 2015
By Kate Arkless Gray, Wellcome Trust Blog, September 10, 2015What population genetic diversity can and can't tell us, by Anne Buchanan, Mermaid?s Tale, September 10, 2015
by Anne Buchanan, Mermaid?s Tale, September 10, 2015Human genetic diversity and social inequalities, Genes to Genomes Blog, September 9, 2015
Genes to Genomes Blog, September 9, 2015How privacy law affects medical and scientific research, by John Conley, Genomics Law Report, September 1, 2015
by John Conley, Genomics Law Report, September 1, 2015 
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