Genomics|Update|Current: Non-Communicable Diseases

Genomics|Update|Current

Non-Communicable Diseases

Birth Defects & Child Health

Clinical utility gene card for: Zellweger syndrome spectrum 
Rosewich H, et al. Eur J Hum Genet 2014 Nov

Long-term safety and efficacy of factor IX gene therapy in hemophilia B. 
Amit C. Nathwani et al. NEJM November 19, 2014

Cancer

A genetic lung cancer susceptibility test may have a positive effect on smoking cessation 
Kammin T, et al. J Genet Couns 2014 Nov

Cancer genomic research at the crossroads: realizing the changing genetic landscape as intratumoral spatial and temporal heterogeneity becomes a confounding factor 
Li SC, et al. Cancer Cell Int 2014;14(1):115

Cost estimates and economic implications of expanded RAS testing in metastatic colorectal cancer 
Kircher SM, et al. Oncologist 2014 Nov

Having a child and PND/PGD access in women with a BRCA1/2 mutation? Different approach whether ill or healthy 
Pellegrini I, et al. Bull Cancer 2014 Nov;101(11):1001-8

Prostate cancer risk prediction based on complete prostate cancer family history 
Albright F, et al. Prostate 2014 Nov

Randomized controlled trial of a telephone-based peer-support program for women carrying aBRCA1 or BRCA2 mutation: Impact on psychological distress 
White VM, et al. J Clin Oncol 2014 Nov

Tumour screening: making resistance futile? By Rebecca Bazeley, PHG Foundation, Nov 24

Chronic Diseases

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes) 
Witsch-Baumgartner M & Touitou I Eur J Hum Genet 2014 Nov

Congruence-incongruence patterns in alpha-1 antitrypsin deficiency couples' genetic determinist beliefs and perceived control over genes: Implications for clinical and public health genomic communication 
Parrott RL, et al. J Genet Couns 2014 Nov

Prognostic serum miRNA biomarkers associated with Alzheimer’s disease shows concordance with neuropsychological and neuroimaging assessment. 
L Cheng et al. Molecular Psychiatry 28 October 2014

Alzheimer’s test detects disease decade ahead of onset, by Megan Scudellari, Bloomberg News, Nov 17

New blood-based Alzheimer's biomarker panel uses exosomal miRNA, by Madeleine Johnson, GenomeWeb, Nov 21 [by free subscription only]

Ethics, Policy & Law

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders 
Skirton H, et al. Eur J Hum Genet 2014 Nov

Consenting for current genetic research: is Canadian practice adequate? 
Jaitovich Groisman I, et al. BMC Med Ethics 2014 Nov;15(1):80

Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions 
Christenhusz GM, et al. Med Health Care Philos 2014 Nov

The hidden harm behind the return of results from personal genome services: a need for rigorous and responsible evaluation 
Janssens AC Genet Med 2014 Nov

Reporting race and ethnicity in genetics research: Do journal recommendations or resources matter? 
Sankar P, et al. Sci Eng Ethics 2014 Nov

Genomics in Practice

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort 
Retterer K, et al. Genet Med 2014 Nov

Communities and community genetics in Ethiopia 
Tadesse L, et al. Pan Afr Med J 2014;18:115

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions 
Farwell KD, et al. Genet Med 2014 Nov

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 
Mark B. Consugar, et al. Genetics in Medicine, November 20, 2014  

Reacting to genetic risk: An experimental survey of life between health and disease 
Almeling R & Gadarian SK J Health Soc Behav 2014 Dec;55(4):482-503

Reporting incidental findings in clinical whole exome sequencing: incorporation of the 2013 ACMG recommendations into current practices of genetic counseling 
Smith LA, et al. J Genet Couns 2014 Nov

Guidelines & Recommendations

The 2014 ESC guidelines on the diagnosis and management of hypertrophic cardiomyopathy: What is new? 
Maisch B & Mahrholdt H Herz 2014 Nov

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics 
Kishnani PS, et al. Genet Med 2014 Nov

Recommendations for the management of patients with familial hypercholesterolemia 
Feldman DI, et al. Curr Atheroscler Rep 2015 Jan;17(1):473

Newborn Screening

Education and parental involvement in decision-making about newborn screening: Understanding goals to clarify content 
Potter BK, et al. J Genet Couns 2014 Nov

Storage and use of newborn screening blood specimens for research: assessing public opinion in Illinois 
Hart A, et al. J Genet Couns 2014 Nov

Pharmacogenomics

Pilot study of pharmacist-assisted delivery of pharmacogenetic testing in a primary care setting 
Haga SB, et al. Pharmacogenomics 2014 Sep;15(13):1677-86

Reproductive Health

Molecular classification of endometriosis and disease stage using high-dimensional genomic data
John S. Tamaresis, et al. Endocrinology 2014 Sep 22

High-tech analysis of genetic data may yield new test for endometriosis, NIH News, Nov 25

Reviews, News & Commentaries

Modern drug development- which patients should come first?
Vaduganathan M, et al. JAMA 2014 Nov 24

Perspectives of biologists, epidemiologists and geneticists' controversies in sciences and health system reforms 
Huttin CC Technol Health Care 2014 Nov

How personalized medicine is changing lung cancer? Jeanne Erdmann, Genome Magazine, Winter 2014

Professor Nazneen Rahman: 'Women with ovarian cancer should have access to BRCA testing', Ovarian Cancer UK, Nov 26

What does genomics mean for the environment? Everything, by Pierre Meulien and John Dirks, The Globe and Mail, Nov 26

NIH News: High-tech analysis of genetic data may yield new test for endometriosis, Nov 25

US clarifies position on secondary findings in clinical genome sequencing, PHG Foundation, Nov 25

Family ties, by Selena Martinez, Genome Magazine, Nov 24

Give and take, by Jeanette McCarthy, Genome Magazine< Nov 24

We can, and should, do clinical trials in rare diseases, CureFFI.org, Nov 24

Copy-number: exomes vs genomes, proposing a better strategy, Core Genomics blog post, Nov 20

Will the boom in personal genomics backfire? Genetic Literacy Project, Nov 20

Genes unzipped, so many genetic data, so many uses, The Economist, Nov 19

Splash of cold water for clinical genomics at Cold Spring Harbor Personal Genomes Meeting,by Aaron Krol, BioIT World, Nov 19

Teaching bioinformatics in concert 
Anya L. Goodman et al. PLOS Computational Biology, November 20, 2014

Epigenetics and its role in periodontal diseases - a state-of-the-art review. 
Larsson L, et al. J Periodontol. 2014 Nov 21:1-18.

Personalized medicine becoming reality at Chicago-area health system, Neil Versel, US News, Nov 21

Molecular discoveries yield many personalized treatment targets in ovarian cancer, Lauren M. Green, Targeted Oncology, Nov 6

How can GENETICS revolutionize medicine? TedMed video, You Tube, Nov 18

Tools and Databases

Allele frequency net 2015 update: new features for HLA epitopes, KIR and disease and HLA adverse drug reaction associations 
Gonzalez-Galarza FF, et al. Nucleic Acids Res 2014 Nov

bam.iobio: a web-based, real-time, sequence alignment file inspector 
Chase A Miller, et al. Nature Methods 11, 1189 (2014) 25 November 2014

The IPD and IMGT/HLA database: allele variant databases 
Robinson J, et al. Nucleic Acids Res 2014 Nov

The RD5000 database: Facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases 
van Huet RA, et al. Invest Ophthalmol Vis Sci 2014;55(11):7355-60