Birth Defects & Child Health
Clinical management of pediatric genomic testing
Holm IA Curr Genet Med Rep 2014 Dec;2(4):212-5
Clinical utility gene card for: Alport syndrome - update 2014
Hertz JM, et al. Eur J Hum Genet 2014 Nov
Health-related quality of life in children with sickle cell anemia: Impact of blood transfusion therapy.
Beverung LM, et al. Am J Hematol. 2014 Oct 27.
Personalized medicine approaches in epilepsy.
Walker LE, et al. J Intern Med. 2014 Oct 23.
Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects.
Giugliani R et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:152-8.
Clinical decisions: Screening an asymptomatic person for genetic risk--polling results
Schulte J, et al. N Engl J Med 2014 Nov;371(20):e30
Combined associations of genetic and environmental risk factors: implications for prevention of breast cancer
Garcia-Closas M, et al. J Natl Cancer Inst 2014 Nov;106(11)
Health professionals' evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer
Douma KF, et al. Fam Cancer 2014 Nov
How can next-generation sequencing (genomics) help us in treating colorectal cancer?
Ciombor KK, et al. Curr Colorectal Cancer Rep. 2014 Dec 1;10(4):372-379.
How many etiological subtypes of breast cancer: two, three, four, or more?
Anderson WF, et al. J Natl Cancer Inst. 2014 Aug 12;106(8).
Personalized cocktails vanquish resistant cancers. Tailored approach uses cultured tumor samples to find effective drug combinations.
Heidi Ledford Nature News 13 November 2014
Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk
Rahman B, et al. Fam Cancer 2014 Nov
Randomized controlled trial of a telephone-based peer-support program for women carrying a BRCA1 or BRCA2 mutation: Impact on psychological distress
Victoria M. White, et al. J Clinical Oncology, November 17, 2014
Tumour genomic and microenvironmental heterogeneity for integrated prediction of 5-year biochemical recurrence of prostate cancer: a retrospective cohort study
Emilie Lalonde, et al. Lancet Oncology 2014 Nov 13
Prostate cancer researchers develop personalized genetic test to predict recurrence risk, Medical Xpress, Nov 12
Association of sickle cell trait with chronic kidney disease and albuminuria in African Americans.
Rakhi P. Naik et al. JAMA, November 13, 2014
Atenolol versus losartan in children and young adults with Marfan's syndrome
Ronald V. Lacro, et al. NEJM, November 18, 2014
MYOC mutations in black South African patients with primary open-angle glaucoma: Genetic testing and cascade screening.
Williams SE, et al. Ophthalmic Genet. 2014 Oct 20:1-8.
Ethics, Policy & Law
Disclosing genetic information to family members about inherited cardiac arrhythmias: An obligation or a choice?
Vavolizza RD, et al. J Genet Couns 2014 Nov
Ethical and professional challenges encountered by laboratory genetic counselors
Groepper D, et al. J Genet Couns 2014 Nov
Ethical considerations in biobanks: How a public health ethics perspective sheds new light on old controversies.
Virani AH, Longstaff H. J Genet Couns. 2014 Oct 29
Ethical issues in the export, storage and reuse of human biological samples in biomedical research: perspectives of key stakeholders in Ghana and Kenya.
Tindana P, et al. BMC Med Ethics. 2014 Oct 18;15(1):76.
Why information alone is not enough: behavioral economics and the future of genomic medicine.
Blumenthal-Barby JS, et al. Ann Intern Med. 2014 Oct 21;161(8):605-6.
Genomics in Practice
An index of barriers for the implementation of personalised medicine and pharmacogenomics in Europe
Horgan D, et al. Public Health Genomics 2014 Nov:287-98
Disclosure of genetic information and change in dietary intake: A randomized controlled trial
Nielsen DE & El-Sohemy A PLoS One 2014;9(11):e112665
Genetic counseling for indigenous Australians: an exploratory study from the perspective of genetic health professionals.
Kowal E, et al. J Genet Couns. 2014 Oct 28.
Reporting genomic secondary findings: ACMG members weigh in
Scheuner MT, et al. Genet Med 2014 Nov
The cost-effectiveness of returning incidental findings from next-generation genomic sequencing
Bennette CS, et al. Genet Med 2014 Nov
Future opportunities for genome sequencing and beyond: A planning workshop for the National Human Genome Research Institute, workshop report and recommendations (2014)
Guidelines & Recommendations
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
Hampel H, et al. Genet Med 2014 Nov
International guidelines for the management and treatment of Morquio A syndrome.
Hendriksz CJ, et al. Am J Med Genet A. 2014 Oct 24.
Genetics professionals' opinions of whole-genome sequencing in the newborn period.
Ulm E, et al. J Genet Couns. 2014 Oct 28.
Newborn screening for SCID: where are we now?
Buelow BJ, et al. Expert Rev Clin Immunol 2014 Nov:1-9
Universal state newborn screening programs can reduce health disparities
Brosco JP, et al. JAMA Pediatr 2014 Nov
Evidence required to demonstrate clinical utility of pharmacogenetic testing: the debate continues
Gillis NK & Innocenti F Clin Pharmacol Ther 2014 Dec;96(6):655-7
Meaningful use of pharmacogenetics
M J Ratain and J A Johnson Clinical Pharmacology & Therapeutics (2014); 96 6, 650–652.
Useless until proven effective: The clinical utility of preemptive pharmacogenetic testing
A C J W Janssens and P A Deverka Clinical Pharmacology & Therapeutics (2014); 96 6, 652–654.
Prenatal and preconception population carrier screening for cystic fibrosis in Australia: Where are we up to?
Massie J, et al. Aust N Z J Obstet Gynaecol. 2014 Oct 28.
Reviews, News & Commentaries
Population and personalized medicine in the modern era
Jessica L. Mega et al. JAMA November 17, 2014
Promoting healthy dietary behaviour through personalised nutrition: technology push or technology pull?
Stewart-Knox B, et al. Proc Nutr Soc. 2014 Oct 24:1-6.
The area under the ROC curve: Is it a valid measure of screening performance?
Wald NJ1, Bestwick JP2. J Med Screen. 2014 Dec;21(4):220.
What do all the (human) micro-RNAs do?
Alfred Ultsch and Jörn Lötsch BMC Genomics 2014, 15:976
Is the gene-editing revolution finally here? A DNA-editing technique based on bacterial “memories” could revolutionize medicine. But some worry it could get out of control, by Margaret Knox, Scientific American, December 2014
Data-access practices strengthened, Nature News, Nov 19
The search for exceptional genomes, by Anonio Regalado, MIT Technology Review, Nov 19
Questions for Thomas Insel: Paths to treatments for autism, byJessica Wright , SFARI Nov 18
'Platinum' genome takes on disease, by Ewen Callaway, Nature News, Nov 18
Alzheimer’s test detects disease decade ahead of onset, by Megan Scudellari, Bloomberg News, Nov 17
Public attitudes toward genetic risk testing and its role in healthcare, Medscape, Nov 17 [by free subscription only]
Why we should resist the lure of home genetic tests, by Carly Weeks, The Globe and Mail, Nov 16
Pharmacogenetics helps fine-tune warfarin dosing in kidney, by Kari Oakes, HCP Live, Nov 16
It’s not always the DNA, by Diana Lutz, Washington University, Nov 13
Traversing the cancer biomarker labyrinth: Cancer cells have distinctive molecular architectures full of twists and turns. Biomarkers, however, can reveal the floor plans needed to guide healthcare decisions, by Kathy Liszewski, GEN Bio, Nov 15
IBM's Watson will give you health advice based on your DNA, by Francie Diep, Popular Science, Nov 12
Tools and Databases
COSMIC: exploring the world's knowledge of somatic mutations in human cancer
Simon A. Forbes, et al. Nucleic Acid Research, October 29, 2014
The autism simplex collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses
Buxbaum JD, et al. Mol Autism 2014;5:34
The UCSC Cancer Genomics Browser: update 2015
Goldman M, et al. Nucleic Acids Res 2014 Nov