Genomics|Update|Non Communicable Diseases ► Human Genomics across the Lifespan

Genomics|Update|Non Communicable Diseases

Volume 34  Number 7  February 19-26, 2015

Human Genomics across the Lifespan

• Birth Defects & Child Health
• Cancer
• Chronic Diseases
• Ethics, Policy & Law
• Genomics in Practice

• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Reviews, News & Commentaries
• Tools & Databases

Birth Defects and Child Health

Developmental outcomes of school-age children with Duarte galactosemia: A pilot study. 
Lynch Mary Ellen, et al. JIMD Rep 2015 2 15.

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Cancer

A model to determine colorectal cancer risk using common genetic susceptibility loci. 
Hsu Li, et al., Gastroenterology 2015 2 12.

A simple-to-use method incorporating genomic markers into prostate cancer risk prediction tools facilitated future validation. 
Grill Sonja, et al. J Clin Epidemiol 2015 1 14.

Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study. 
Walsh E M, et al. Ir J Med Sci 2015 2 12.

Carcinoma of unknown primary site - the poster child for personalized medicine?
Gauri Varadhachary  JAMA Oncol. 2015 Feb 12

Comprehensive genomic profiling of carcinoma of unknown primary site
Ross J, et al. JAMA Oncol. 2015 Feb 12

Does perceived risk predict breast cancer screening use? Findings from a prospective cohort study of female relatives from the Ontario site of the breast cancer family registry. 
Walker Meghan J, et al. Breast 2014 8 0. (4) 482-8

Feelings of women with strong family histories who subsequent to their breast cancer diagnosis tested BRCA positive. 
Joseph Meera, et al. Int. J. Gynecol. Cancer 2015 2 11.

Genomic classifier identifies men with adverse pathology after radical prostatectomy who benefit from adjuvant radiation therapy.
Den RB, et al. J Clin Oncol. 2015 Feb 9. pii: JCO.2014.59.0026.

Milestones of Lynch syndrome: 1895-2015. 
Lynch Henry T, et al. Nat. Rev. Cancer 2015 2 12.

Prostate cancer screening using risk stratification based on a multi-state model of genetic variants. 
Yen Amy Ming-Fang, et al. Prostate 2015 2 14.

The 21-gene recurrence score complements IBTR! Estimates in early-stage, hormone receptor-positive, HER2-normal, lymph node-negative breast cancer. 
Thaker Nikhil G, et al. Springerplus 2015 0 0. 36 

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Chronic Diseases

Healthcare Coordination and Transition for Individuals with Genetic Conditions. 
Romelczyk Sharon, et al. Matern Child Health J 2015 2 17.

Significant gaps in awareness of familial hypercholesterolemia among physicians in selected Asia-Pacific countries: A pilot study. 
Pang Jing, et al. J Clin Lipidol 0 0 0. (1) 42-8

Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia? 
Futema M, et al. Atherosclerosis 2015 1 28. (2) 295-298

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Ethics, Policy and Law

Biobank research, informed consent and society. Towards a new alliance? 
D'Abramo Flavio J Epidemiol Community Health 2015 2 10.

Cutting the Gordian Helix — Regulating Genomic Testing in the Era of Precision Medicine
Lander ES  N Engl J Med. 2015 Feb 17.

Ethical considerations of population screening for late-onset genetic disease. 
Golden-Grant Kathryn, et al. Clin. Genet. 2015 2 10.

In NEJM, Lander lauds steps at FDA to build new regulatory framework for genomic tests,Genome Web, Feb 18 [by free subscription only]

New approaches to regulating precision medicine needed, Genome Web, Feb 13 [by free subscription only]

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Genomics in Practice

Is the "$1000 Genome" really $1000? Understanding the full benefits and costs of genomic sequencing.
Phillips Kathryn A et al. Technol Health Care 2015 2 6.

Practical considerations in the clinical application of whole exome sequencing. 
Shashi V, et al. Clin. Genet. 2015 2 12.

Reporting incidental findings in genomic scale clinical sequencing-a clinical laboratory perspective: a report of the association for molecular pathology. 
Hegde Madhuri, et al. J Mol Diagn 2015 3 0. (2) 107-17

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Newborn Screening

Assessing the improvements in the newborn screening strategy for cystic fibrosis in the Balearic Islands.
Bauça Josep Miquel et al. Clin. Biochem. 2015 2 11.

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study. 
Baker Mei W, et al. Genet. Med. 2015 2 12.

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Pharmacogenomics

Clinical validity: Combinatorial pharmacogenomics predicts antidepressant responses and healthcare utilizations better than single gene phenotypes. 
Altar C A, et al. Pharmacogenomics J. 2015 2 17. 

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Reproductive Health

Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing. 
Tan Yueqiu, et al. Gigascience 2014 0 0. (1) 30 

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Reviews, News and Commentaries

Liquid Biopsy - Fast DNA-sequencing machines are leading to simple blood tests for cancer, MIT Technology Review

Beyond the genome
Nature Editorial 2015 February 18

Huge epigenomic map examines life's impact on our genes, New Scientist, Feb 18

Genetics education sees uptick in curricula, by Meghan Ross, Pharmacy Times, Feb 17

Mastering the clinical development of personalized cancer medicines, by Karen Honey, Cancer Research Catalyst Blog, Feb 17

Stealth research: Is biomedical innovation happening outside the peer-reviewed literature?
John P. A. Ioannidis, JAMA, February 17, 2015

Sudden Adult Death Syndrome: the genetic screening that saves young lives, by Ronan McGreevy, Irish Times, Feb 17

Translating Personalized Genomic Medicine: Evidence, values, and health policy, by Yvonne Bombard, Video Presentation, CADTH 25th Anniversary Lecture Series 2014, You Tube 

Consultations on screening for genetic disorders in the UK, PHG Foundation, Feb 16

Genes tell only part of story, by Abigail Zuger, M.D., New York Times, Feb 16

Commentary: we need to be better prepared for a technological future.
Mesko B BMJ. 2015 Feb 10;350:h279.

Decision aids that really promote shared decision making: the pace quickens.
Agoritsas T et al.  BMJ. 2015 Feb 10;350:g7624.

Meeting notes: Small thoughts on large cohorts, Matt Might, February 2015

DNA and data – a combined revolution in healthcare. Advances in both genomic and digital technologies bring both opportunities and challenges for the health sector, Genomics Education, National Health Service UK blog post, Feb 9

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Tools and Databases

Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors.
Dienstmann R, et al. Cancer Discov. 2015 Feb;5(2):118-23.

Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser
Zhou X, et al. Nature Biotechnology (2015) Feb 18

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. 
Sobreira Nara, et al. Hum. Mutat. 2015 2 14.