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

Genomics|Update|Non Communicable Diseases

Volume 34  Number 16  April 23-30, 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

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data.
Langlois PH et al. Am. J. Med. Genet. A 2014 Sep 164A(9) 2187-99

Clinical diagnostic next-generation sequencing: The case of CFTR carrier screening.
Loukas YL et al. Scand. J. Clin. Lab. Invest. 2015 Apr 15. 1-8

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.
Manitto MP et al. Eur. J. Hum. Genet. 2015 Apr 15.

Effects of high-dose oral insulin on immune responses in children at high risk for type 1 diabetes: The Pre-POINT Randomized Clinical Trial.
Bonifacio E et al. JAMA 2015 Apr 21. 313(15) 1541-1549

Gene hunting in autism spectrum disorder: on the path to precision medicine
Geschwind D, et al. Lancet Neurology 2015 April 16

Genetic findings in autism could lead to personalized therapy, Genome Web, Apr 17 [by free subscription only]

Knowledge and awareness of personal sickle cell genotype among parents of children with sickle cell disease in southeast Nigeria.
Ezenwosu OU et al. J Community Genet 2015 Apr 14.

Molecular diagnosis of fragile x syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional pakistan.
Kanwal M et al. PLoS ONE 2015 10(4) e0122213

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.
Hacein-Bey AS et al. JAMA 2015 Apr 21. 313(15) 1550-1563

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Biegstraaten M et al. Orphanet J Rare Dis 2015 10(1) 36

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.
Cruz-Mariño T et al. J Community Genet 2015 Apr 19.

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
O'Byrne JJ et al. Ir J Med Sci 2015 Apr 21.

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
Miller MJ et al. J. Inherit. Metab. Dis. 2015 Apr 15.

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Cancer

Clinical validity of new genetic biomarkers of irinotecan neutropenia: an independent replication study.
Crona DJ et al. Pharmacogenomics J. 2015 Apr 14.

Commercially available prognostic molecular models in early-stage lung cancer: a review of the Pervenio Lung RS and Myriad myPlan Lung Cancer tests.
Zheng Y et al. Expert Rev. Mol. Diagn. 2015 May 15(5) 589-96

Cost effectiveness of using array-CGH for diagnosing learning disability.
Sagoo GS et al. Appl Health Econ Health Policy 2015 Apr 19.

Family history and risk of pregnancy-associated breast cancer (PABC).
Johansson AL et al. Breast Cancer Res. Treat. 2015 Apr 19.

Genomic index predicts clinical outcome of intermediate-risk gastrointestinal stromal tumours, providing a new inclusion criterion for imatinib adjuvant therapy.
Lartigue L et al. Eur. J. Cancer 2015 Jan 51(1) 75-83

Interest in genomic SNP testing for prostate cancer risk: a pilot survey.
Hall MJ et al. Hered Cancer Clin Pract 2015 13(1) 11

KRAS testing of patients with metastatic colorectal cancer in a community-based oncology setting: a retrospective database analysis.
Carter GC et al. J. Exp. Clin. Cancer Res. 2015 34(1) 29

Long-term cost-effectiveness of Oncotype DX(®) versus current clinical practice from a Dutch cost perspective.
Kip M et al. J Comp Eff Res 2015 Apr 15. 1-13

Personalized genomic analyses for cancer mutation discovery and interpretation.
Jones S et al. Sci Transl Med 2015 Apr 15. 7(283) 283ra53

Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators.
Schneider JL et al. Genet. Med. 2015 Apr 16.

Validation of an NGS approach for diagnostic BRCA1/BRCA2 mutation testing.
Dacheva D et al. Mol Diagn Ther 2015 Apr 17.

New genetic tests for breast cancer hold promise, by Andrew Pollack, New York Times, Apr 21

Assessing breast cancer risk: Beyond the Angelina Effect By Ricki Lewis, Genetic Literacy Project, Apr 16

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Chronic Diseases

Does type 2 diabetes genetic testing and counseling reduce modifiable risk factors? A randomized controlled trial of veterans.
Voils CI et al. J Gen Intern Med 2015 Apr 16.

Evaluating approaches for communication about genomic influences on body weight.
Persky S et al. Ann Behav Med 2015 Apr 17.

Genetic causal beliefs about morbidity: associations with health behaviors and health outcome beliefs about behavior changes between 1982-2002 in the Finnish population.
Haukkala A et al. BMC Public Health 15(1) 389

Perceptions of the roles of behaviour and genetics in disease risk: are they associated with behaviour change attempts.
Nguyen AB et al. Psychol Health 2015 30(3) 336-53

Recommendations from the international stroke genetics consortium, part 1: standardized phenotypic data collection.
Majersik JJ et al. Stroke 2015 Jan 46(1) 279-84

Recommendations from the international stroke genetics consortium, part 2: biological sample collection and storage.
Battey TW et al. Stroke 2015 Jan 46(1) 285-90

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Ethics, Policy and Law

Ethics and clinical utility of direct-to-consumer genetic tests.
Sarin R et al. J Cancer Res Ther 11(1) 1-2

What are some of the ELSI challenges of international collaborations involving biobanks, global sample collection, and genomic data sharing and how should they be addressed?
Bjugn R et al. Biopreserv Biobank 2015 Apr 13(2) 70-1

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Genomics in Practice

GeneDig: a web application for accessing genomic and bioinformatics knowledge.
Suciu RM et al. BMC Bioinformatics 2015 16(1) 67

Genetics in primary health care and the national policy on comprehensive care for people with rare diseases in Brazil: opportunities and challenges for professional education.
Melo DG et al. J Community Genet 2015 Apr 18.

Laboratory genetic testing in clinical practice 2014.
Cogulu O et al. Biomed Res Int 2015 2015574798

Telemedicine uptake among genetics professionals in Europe: room for expansion
Otten E, et al. European Journal of Human Genetics 2015 Apr22

WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.
Ye Z et al. Comput. Biol. Med. 2015 Apr 8.

Genetic testing's beginnings, Genome Web, Apr 20 [by free subscription only]

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Newborn Screening

Newborn bloodspot retention reinstated in Minnesota: practice expected to benefit larger newborn screening studies, public health, disease research.
Am. J. Med. Genet. A 2014 Sep 164A(9) viii-ix

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Pharmacogenomics

Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.
Samwald M et al. BMC Med Inform Decis Mak 2015 15(1) 12

Pharmacogenomic test that predicts response to inhaled corticosteroids in adults with asthma likely to be cost-saving.
Wu AC et al. Pharmacogenomics 2015 Apr 16. 1-10

Genetic variance explains poor response to common asthma medications, Science Daily, Apr 21 

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Reproductive Health

Use of cell-free DNA to screen for Down's syndrome.
Chitty LS et al. N. Engl. J. Med. 2015 Apr 23. 372(17) 1666-1667

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Reviews, News and Commentaries

Beyond bar and line graphs: Time for a new data presentation paradigm.
Weissgerber TL et al. PLoS Biol. 2015 Apr 13(4) e1002128

Bringing access to the full spectrum of cancer research: a call for papers.
PLoS Med. 2015 Apr 12(4) e1001817

Developing medicines that mimic the natural successes of the human genome: Lessons from NPC1L1, HMGCR, PCSK9, APOC3, and CETP.
Kathiresan S et al. J. Am. Coll. Cardiol. 2015 Apr 21. 65(15) 1562-6

The history and fate of the gold standard
Jones DS, et al. Lancet Vol 385, No. 9977, p1502?1503, 18 April 2015

Editing human embryos: So this happened, by Carl Zimmer, National Geographic, Apr 22

Epigenetic marks lay foundations for a child's future abilities, Science Daily, Apr 22

Gene therapy benefits rare genetic disease patients, by Philippa Brice, PHG Foundation, Apr 22

BRCA gene datashare will help detect cancer risk, by Susan Miller, USA Today, Apr 21

FDA, CMS form interagency task force to coordinate LDT regulation, Genome Web, Apr 21 [by free subscription only]

Geisinger opens genomic research center, houses telegenomics program, HIT Consultant, Apr 21

Genome-wide analysis of asthma patients implicates VNN1 expression in treatment response,Genome Web, Apr 21 [by free subscription only]

Screening tests for breast cancer genes just got cheaper, by Rob Stein, NPR, Apr 21

The future of cancer treatment is (almost) here, by Tina Nova, Wired, Apr 21

Happy 150th anniversary to the 'Father of Modern Genetics', redOrbit, Apr 19

Researchers report initial feasibility of identifying patients who are exceptional responders to cancer therapy, NCI News, Apr 19

With BRCA genetic testing on rise, insurers balk, by Marie McCullough, Philly.com, Apr 19

Cancer genomics: Data, data and more data, by Clare Garvey, PLoS Blogs, Apr 17

The disease that turned us into genetic-information junkies, by Alexandra Ossola, Nautilus, Apr 17

US societies push back against NIH reproducibility guidelines, by Monya Baker, Nature News, Apr 17

Cancer: The Ras renaissance, by Heidi Ledford, Nature News, Apr 15

Divide and conquer: The molecular diagnosis of cancer, by Louis M. Staudt, NCI Blog Post, Apr 13

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Tools and Databases

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations Lerner-Ellis J, et al. J Med Genet 2015 Apr 22

The BioMart community portal: an innovative alternative to large, centralized data repositories.Smedley Damian et al. Nucleic Acids Res. 2015 Apr 20.