Published on 07/09/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Gene therapy for deafness: How close are we?
Moser Tobias, et al. Science translational medicine 2015 7 0. (295) 295fs28
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.
Botkin Jeffrey R et al. Am. J. Hum. Genet. 2015 Jul 2. 97(1) 6-21
Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients.
Sausen Mark, et al. Nature communications 2015 7 0. 7686
Decision-making impact on adjuvant chemotherapy allocation in early node-negative breast cancer with a 21-gene assay: systematic review and meta-analysis.
Augustovski Federico et al. Breast Cancer Res. Treat. 2015 Jul 1.
Glypican-1 identifies cancer exosomes and detects early pancreatic cancer.
Melo Sonia A et al. Nature 2015 Jun 24.
A perfect blood test for pancreatic cancer?
By Elaine Schattner, Forbes, Jul 6
American Thyroid Association Statement on Surgical Application of Molecular Profiling for Thyroid Nodules: Current Impact on Perioperative Decision Making.
Ferris Robert L et al. Thyroid 2015 Jun 24.
Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome.
Dashti Seyedeh Ghazaleh et al. JAMA 2015 Jul 7. 314(1) 61-71
Scientists lead consensus guidelines for thyroid cancer molecular tests,
Medical News Today, Jul 6
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 Fernando et al. Genet. Med. 2015 Jul 2.
Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda.
Baddams Emma L 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 Katherine E et al. PLoS ONE 2015 10(7) e0130754
Regulatory changes raise troubling questions for genomic testing.
Evans Barbara J et al. Genet. Med. 2014 Nov 16(11) 799-803
Looking for Trouble: Preventive Genomic Sequencing in the General Population and the Role of Patient Choice.
Lázaro-Muñoz Gabriel 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 Adam A et al. Curr Genet Med Rep 2014 Dec 1. 2(4) 201-211
Exploring researchers' experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study.
Campbell Megan M et al. BMC Med Ethics 2015 16(1) 45
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 Bruce R et al. Genet. Med. 2014 Nov 16(11) 804-9
Genetics in medicine--progress and pitfalls.
Lancet 2015 Jun 6. 385(9984) 2223
Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials.
Mega Jessica L et al. Lancet 2015 Jun 6. 385(9984) 2264-71
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
Shirts Brian H et al. J Am Med Inform Assoc 2015 Jul 3.
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.
Patient attitudes towards prenatal diagnostic testing for inherited retinal disease.
Ahmed Khuram et al. Prenat. Diagn. 2015 Jun 30.
Changing Trends in Carrier Screening for Genetic Disease in the United States.
Nazareth Shivani B et al. Prenat. Diagn. 2015 Jul 3.
A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States.
Walker Brandon S et al. PLoS ONE 2015 10(7) e0131402
Genetic counseling: Making genetics real,
by Michelle Fox, Huffington Post Blog, Jul 7
GM8: Looking across genomic medicine's gaps and opportunities,
by Steven Benowitz, NHGRI, Jul 6
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
ASHG position statement provides guidance for genetic testing in children and adolescents,
Genome Web, Jul 2 [by free subscription only]
Genetic Variation Determines PPAR? Function and Anti-diabetic Drug Response In Vivo.
Soccio Raymond E et al. Cell 2015 Jul 2. 162(1) 33-44
Genetic variation influences effectiveness of anti-diabetic drug,
Medical News Today, Jul 3
Genome researchers raise alarm over big data,
by Erika Check Hayden, Nature News, Jul 7
Big Data: Astronomical or Genomical?
Stephens Zachary D 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
Keep it limited, if possible,
Genome Web, Jul 6 [by free subscription only]
Varmus Returns to His Roots in Cancer Genetics.
Varmus Harold, et al. JAMA 2015 7 0. (1) 13-4
Psychiatric genomics - a double-edged sword?
Genomics Education Programme, Jul 6