Genomics|Update|Non Communicable Diseases

Genomics|Update|Non Communicable Diseases

Volume 33  Number 23  December 11-18, 2014

Birth Defects & Child Health

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray
Robin Z Hayeems et al. European Journal Human Genetics, December 10, 2014

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE, et al. Sci Transl Med. 2014 Dec 3;6(265):265ra168.

Genetic screening saved this baby's life, by Alice Park Time, Dec 8

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Cancer

The 21-gene recurrence score and locoregional recurrence in breast cancer patients 
Jegadeesh NK, et al. Ann Surg Oncol 2014 Dec

Clinical utility of gene-expression profiling in women with early breast cancer: an overview of systematic reviews 
Marrone M, et al. Genet Med 2014 Dec

Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey
Violette PD, et al. Can Urol Assoc J 2014 Nov;8(11-12):E832-E840

Loss of heterozygosity at the CYP2D6 locus in breast cancer: Implications for germline pharmacogenetic studies
Matthew P. Goetz, et al. JNCI J Natl Cancer Inst (2015) 107 (2): dju401

Mayo Clinic: Genotyping errors plague CYP2D6 testing for tamoxifen therapy, EurekAlert, Dec 9

Prevalence and correlates of receiving and sharing high-penetrance cancer genetic test results: Findings from the Health Information National Trends Survey. 
Taber JM, et al.  Public Health Genomics. 2014 Nov 25

Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic
Walker R, et al. Can Urol Assoc J 2014 Nov;8(11-12):E783-E788

Should a family history of papillary thyroid carcinoma indicate more aggressive therapy in patients with this tumor? 
Rosario PW & Calsolari MR Arq Bras Endocrinol Metabol 2014 Nov;58(8):812-6

Testing for hereditary breast cancer: Panel or targeted testing? Experience from a clinical cancer genetics practice
Doherty J, et al. J Genet Couns 2014 Dec

Updated UK recommendations for HER2 assessment in breast cancer.
Rakha EA, et al. J Clin Pathol. 2014 Dec 8. pii: jclinpath-2014-202571.

Fecal DNA analysis for colorectal cancer screening,  [PDF 223.30 KB] TEC Special Report, BlueCross Blue Shield, Dec 2014

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Chronic Diseases

Management of adult patients with phenylketonuria: survey results from 24 countries
Trefz FK, et al. Eur J Pediatr 2014 Dec

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Ethics, Policy & Law

FDA's activities supporting regulatory application of "Next Gen" sequencing technologies
Wilson CA & Simonyan V PDA J Pharm Sci Technol 2014 Nov-2014 Dec;68(6):626-30

NIH broadens genomic data-sharing policy 
Cancer Discov 2014 Dec;4(12):OF4

Regulating genetic information--exploring the options in legal theory 
de Paor A Eur J Health Law 2014 Dec;21(5):425-53

Another patent challenge for personalized medicine, by Antoinette F. Konski and Peng Sun, Personalized Medicine Bulletin, Dec 8

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Genomics in Practice

Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers 
Carere DA, et al. Genome Med 2014;6(12):96

Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding 
Haga SB, et al. Genome Med 2014;6(7):58

DISEASES: Text mining and data integration of disease-gene associations 
Pletscher-Frankild S, et al. Methods 2014 Dec

Nurses' knowledge and educational needs regarding genetics 
Seven M, et al. Nurse Educ Today 2014 Nov

Public health genetic counselors: Activities, skills, and sources of learning
McWalter KM, et al. J Genet Couns 2014 Dec

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

Most would act if they had genetic risk for illness: Survey, US News, Dec 8

Using needs-based frameworks for evaluating new technologies: An application to genetic tests
Rogowski WH & Schleidgen S Health Policy 2014 Nov

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Newborn Screening

National survey of providers treating patients with metabolic disorders identified by newborn screening demonstrates challenges faced by clinical care systems 
McClain MR, et al. Clin Pediatr (Phila) 2014 Dec

Parents are interested in newborn genomic testing during the early postpartum period
Waisbren SE, et al. Genet Med 2014 Dec

Benefits and burdens of newborn screening: Public understanding and decision-making,Medscape, Dec 8 [by free subscription only]

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Reproductive Health

Perceptions of Latinas on the traditional prenatal genetic counseling model 
Thompson S, et al. J Genet Couns 2014 Dec

Noninvasive prenatal cell-free fetal DNA-based screening for aneuploidies other than trisomy 21,  [PDF 819.23 KB] TEC Assessment, BlueCross Blue Shield, Dec 2014

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Reviews, News & Commentaries

Google opens its cloud to crack the genetic code of autism, by Marcus Wohlsen, Wired, Dec 9

NHMRC releases guidelines after concerns online genetic tests may not meet quality standards,by Sophie Scott, ABC Australia News, Dec 8

NIH Research Matters: Structural snapshots of damaged DNA, Dec 8

NIH Research Matters: Gene therapy used to treat hemophilia, Dec 8

When should your genetic information trump your right to privacy? By Adam Wernick, PRI, Dec 7  

Testing for an incurable disease: Would you want to know? By Susan Donaldson James, NBC News, Dec 6

Sky-high genetic cholesterol targeted for blockbuster drug. Now to find the patients, by Michelle Fay Cortez, Fox News, Dec 5

How the genomic era is just starting, by Craig Venter, Business Week,  Dec 4

Who owns the biggest biotech discovery of the century? There’s a bitter fight over the patents for CRISPR, a breakthrough new form of DNA editing, by Antonio Regalado, Biotechnology News, Dec 4

Family history: Learn your health history during the holidays, Brattleboro Reformer, Dec 4

Feature: Peering into my genome, by Jennifer Couzin-Frankel, Science Magazine, Dec 4

With breakthrough, parents can finally hug and kiss their ‘bubble babies’, by Julie Borg, World Magazine, Dec 3

Dentistry gets personalized. A genetic test for gum disease could be the beginning of a new era in dental medicine, by Leslie Minora, Genome Magazine, Nov 2014

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Tools and Databases

The UCSC Cancer Genomics Browser: update 2015.
Goldman M et al. Nucleic Acids Res. 2014 Nov 11.

Genomes on the Cloud (GotCloud) Mapping & Variant Calling Pipelines, University of Michigan

DISEASES Database: Disease-gene associations mined from literature

DisGeNET integrates information on gene-disease associations from several public data sources and the literature