Volume 35 Number 2 July 9-16, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Gene therapy for deafness: How close are we?
Moser T. Science Translational Medicine 08 Jul 2015: Vol. 7, Issue 295, pp. 295fs28
Moser T. Science Translational Medicine 08 Jul 2015: Vol. 7, Issue 295, pp. 295fs28
Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents.
Botkin JR et al. Am. J. Hum. Genet. 2015 Jul 2. 97(1) 6-21
Botkin JR et al. Am. J. Hum. Genet. 2015 Jul 2. 97(1) 6-21
Keep it limited, if possible, Genome Web, Jul 6 [by free subscription only]
Genome Web, Jul 6 [by free subscription only]Don't get your kids' genes sequenced just to keep up, by Nancy Shute, NPR, Jul 2
by Nancy Shute, NPR, Jul 2Cancer
American Thyroid Association statement on surgical application of molecular profiling for thyroid nodules: Current impact on perioperative decision making.
Ferris RL et al. Thyroid 2015 Jun 24.
Ferris RL et al. Thyroid 2015 Jun 24.
Scientists lead consensus guidelines for thyroid cancer molecular tests, Medical News Today, Jul 6
Medical News Today, Jul 6Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients
Sausen M, et al. Nature Communications 7686, 2015 July 7
Sausen M, et al. Nature Communications 7686, 2015 July 7
Decision-making impact on adjuvant chemotherapy allocation in early node-negative breast cancer with a 21-gene assay: systematic review and meta-analysis.
Augustovski F et al. Breast Cancer Res. Treat. 2015 Jul 1.
Augustovski F et al. Breast Cancer Res. Treat. 2015 Jul 1.
Female hormonal factors and the risk of endometrial cancer in Lynch syndrome.
Dashti SG et al. JAMA 2015 Jul 7. 314(1) 61-71
Dashti SG et al. JAMA 2015 Jul 7. 314(1) 61-71
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Bellido F et al. Genet. Med. 2015 Jul 2.
Bellido F et al. Genet. Med. 2015 Jul 2.
Glypican-1 identifies cancer exosomes and detects early pancreatic cancer.
Melo SA et al. Nature 2015 Jun 24.
Melo SA et al. Nature 2015 Jun 24.
A perfect blood test for pancreatic cancer? By Elaine Schattner, Forbes, Jul 6
By Elaine Schattner, Forbes, Jul 6Chronic Diseases
Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda.
Baddams EL et al. Ann. Clin. Biochem. 2014 Jul 51(Pt 4) 499-502
Baddams EL et al. Ann. Clin. Biochem. 2014 Jul 51(Pt 4) 499-502
Clinical utility of a coronary heart disease risk prediction gene score in UK healthy middle aged men and in the Pakistani population.
Beaney KE et al. PLoS ONE 2015 10(7) e0130754
Beaney KE et al. PLoS ONE 2015 10(7) e0130754
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)
Porto G, et al. European Journal of Human Genetics 2015 July 8
Porto G, et al. European Journal of Human Genetics 2015 July 8
Ethics, Policy and Law
Exploring researchers' experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study.
Campbell MM et al. BMC Med Ethics 2015 16(1) 45
Campbell MM et al. BMC Med Ethics 2015 16(1) 45
Looking for trouble: preventive genomic sequencing in the general population and the role of patient choice.
Lázaro-Muñoz G et al. Am J Bioeth 2015 Jul 15(7) 3-14
Lázaro-Muñoz G et al. Am J Bioeth 2015 Jul 15(7) 3-14
Pragmatic and ethical challenges of incorporating the genome into the electronic medical record.
Nishimura AA et al. Curr Genet Med Rep 2014 Dec 1. 2(4) 201-211
Nishimura AA et al. Curr Genet Med Rep 2014 Dec 1. 2(4) 201-211
Regulatory changes raise troubling questions for genomic testing.
Evans BJ et al. Genet. Med. 2014 Nov 16(11) 799-803
Evans BJ et al. Genet. Med. 2014 Nov 16(11) 799-803
Genomics in Practice
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
Shirts BH et al. J Am Med Inform Assoc 2015 Jul 3.
Shirts BH et al. J Am Med Inform Assoc 2015 Jul 3.
Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics.
Korf BR et al. Genet. Med. 2014 Nov 16(11) 804-9
Korf BR et al. Genet. Med. 2014 Nov 16(11) 804-9
Genetics and the placebo effect: the placebome.
Hall Kathryn T et al. Trends Mol Med 2015 May 21(5) 285-94
Hall Kathryn T et al. Trends Mol Med 2015 May 21(5) 285-94
Genetics in medicine--progress and pitfalls.
Lancet 2015 Jun 6. 385(9984) 2223
Lancet 2015 Jun 6. 385(9984) 2223
Pharmacogenomics
Pharmacogenetic testing prior to carbamazepine treatment of epilepsy: patients' and physicians' preferences for testing and service delivery.
Powell G et al. Br J Clin Pharmacol 2015 Jul 3.
Powell G et al. Br J Clin Pharmacol 2015 Jul 3.
Reproductive Health
A cost-effectiveness analysis of first trimester non-invasive prenatal screening for fetal trisomies in the United States.
Walker BS et al. PLoS ONE 2015 10(7) e0131402
Walker BS et al. PLoS ONE 2015 10(7) e0131402
Changing trends in carrier screening for genetic disease in the United States.
Nazareth SB et al. Prenat. Diagn. 2015 Jul 3.
Nazareth SB et al. Prenat. Diagn. 2015 Jul 3.
Patient attitudes towards prenatal diagnostic testing for inherited retinal disease.
Ahmed K et al. Prenat. Diagn. 2015 Jun 30.
Ahmed K et al. Prenat. Diagn. 2015 Jun 30.
Reviews, News and Commentaries
Big data: Astronomical or genomical?
Stephens ZD et al. PLoS Biol. 2015 Jul 13(7) e1002195
Stephens ZD et al. PLoS Biol. 2015 Jul 13(7) e1002195
Sequencing the genome creates so much data we don't know what to do with it, by Robert Gebelhoff, The Washington Post, July 7
by Robert Gebelhoff, The Washington Post, July 7Genetic variation determines PPARγ function and anti-diabetic drug response in vivo.
Soccio Raymond E et al. Cell 2015 Jul 2. 162(1) 33-44
Soccio Raymond E et al. Cell 2015 Jul 2. 162(1) 33-44
HEALTH CARE POLICY. Ten things we have to do to achieve precision medicine.
Kohane Isaac S et al. Science 2015 Jul 3. 349(6243) 37-8
Kohane Isaac S et al. Science 2015 Jul 3. 349(6243) 37-8
Varmus returns to his roots in cancer genetics
Kuehn B JAMA 2015;314(1):13-14
Kuehn B JAMA 2015;314(1):13-14
Genetic counseling: Making genetics real, by Michelle Fox, Huffington Post Blog, Jul 7
by Michelle Fox, Huffington Post Blog, Jul 7Genome researchers raise alarm over big data, by Erika Check Hayden, Nature News, Jul 7
by Erika Check Hayden, Nature News, Jul 7 GM8: Looking across genomic medicine's gaps and opportunities, by Steven Benowitz, NHGRI, Jul 6
by Steven Benowitz, NHGRI, Jul 6Psychiatric genomics - a double-edged sword? Genomics Education Programme, Jul 6
Genomics Education Programme, Jul 6For first time, gene therapy shows promise in cystic fibrosis, by Kate Kelland, Reuters, Jul 3
, by Kate Kelland, Reuters, Jul 3Genetic variation influences effectiveness of anti-diabetic drug, Medical News Today, Jul 3
Medical News Today, Jul 3ASHG position statement provides guidance for genetic testing in children and adolescents,Genome Web, Jul 2 [by free subscription only]
Genome Web, Jul 2 [by free subscription only]Genomic medicine in the real world: 'Hope' and 'hype', Harvard T.H. Chan School of Public Health, Jul 2015
Harvard T.H. Chan School of Public Health, Jul 2015DNA tests for infectious diseases, by Aimee Swartz, Genome Magazine, Jun 29
by Aimee Swartz, Genome Magazine, Jun 29When cancer runs in the family, by Sonya Collins, Genome Magazine, Jun 29
by Sonya Collins, Genome Magazine, Jun 29
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