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

Genomics|Update|Non Communicable Diseases

Volume 34  Number 29  May 21-28, 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

Birth Defects and Child Health

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. 
Dai Y et al. Neuromuscul. Disord. 2015 Mar 17.

ISPAD clinical practice consensus guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 
Rubio-Cabezas Or et al. Pediatr Diabetes 2014 Sep 15 Suppl 2047-64

Longitudinal investigation of the relationship between family history of psychosis and affective disorders and Child Behavior Checklist ratings in clinical high-risk adolescents. 
Simeonova DI et al. Schizophr. Res. 2015 May 14.

Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR 
Wainwright CE, et al. New England Journal of Medicine 2015 May 17

Utility of a paediatric bleeding questionnaire as a screening tool for von Willebrand disease in apparently healthy children. 
Mittal N et al. Haemophilia 2015 May 16.

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Cancer

A follow-up community survey of knowledge and beliefs about cancer and genetics. 
Sweeney SM et al. J Cancer Educ 2015 May 15.

Childhood cancers in families with and without Lynch syndrome.
Heath JA, et al. Fam Cancer. 2015 May 12.

Experiences of women who underwent predictive BRCA 1/2 mutation testing before the age of 30. 
Brunstrom K et al. J Genet Couns 2015 May 19.

Family risk discussions after feedback on genetic risk of melanoma.
Hay JL, et al. JAMA Dermatol. 2015 Mar;151(3):342-3.

Gene mutation profiling of breast cancers for clinical decision making
Stearns V, et al. JAMA Oncol. May 14, 2015

Is the current diagnostic algorithm reliable for selecting cases for EGFR- and KRAS-mutation analysis in lung cancer? 
Vincenten JPL et al. Lung Cancer 2015 Apr 20.

Psychological distress related to BRCA testing in ovarian cancer patients. 
Bjørnslett M et al. Fam. Cancer 2015 May 16.

Recent enhancements to the genetic risk prediction model BRCAPRO.
Mazzola E, et al. Cancer Inform. 2015 May 10;14(Suppl 2):147-57.

Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry. 
Menes TS et al. Breast Cancer Res. Treat. 2015 May 15.

Survival in familial colorectal cancer: a Danish cohort study.
Lautrup CK, et al. Fam Cancer. 2015 May 12.

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Chronic Diseases

Perception of genetic testing for deafness and factors associated with interest in genetic testing among deaf people in a selected population in Sub-Saharan Africa. 
Adedokun Babatunde O et al. J Genet Couns 2015 May 19.

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Waldmüller S, et al. Mol Cell Probes. 2015 May 12. pii: S0890-8508(15)00043-2.

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Ethics, Policy and Law

Understanding of research, genetics and genetic research in a rapid ethical assessment in north west Cameroon. 
Kengne-Ouafo JA et al. Int Health 2015 May 12.

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Genomics in Practice

Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool. 
Sohani ZN et al. BMC Genet. 2015 16(1) 50

Competency guidelines for public health laboratory professionals: CDC and the Association of Public Health Laboratories. 
Ned-Sykes R et al. MMWR Surveill Summ 2015 May 15. 641-81 (CDC Author)

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Taylor JC, et al. Nature Genetics (2015) May 18

Study looks at diagnostic utility of clinical whole-genome sequencing, Genome Web, May 18 [by free subscription only]

How to know when physicians are ready for genomic medicine. 
Vassy JL et al. Sci Transl Med 2015 May 13. 7(287) 287fs19

Personalized decision support system based on clinical practice guidelines.
Douali N, et al. Stud Health Technol Inform. 2015;211:308-10.

Project brings whole genome sequencing into the clinic, NHS, May 18

To every disease there is a season? What our genes tell us, by David Warmflash, Genetic Literacy Project, May 18

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Newborn Screening

Biomedicine. Newborn screening collides with privacy fears.
Couzin-Frankel J. Science. 2015 May 15;348(6236):740-1.

[New recommendations for the Dutch neonatal screening programme: A report from the Health Council of the Netherlands]. 
Cornel MC et al. Ned Tijdschr Geneeskd 2015 159(0) A9115

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Pharmacogenomics

Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and dosing of selective serotonin reuptake inhibitors. 
Hicks JK et al. Clin. Pharmacol. Ther. 2015 May 13

Cost-effectiveness of one-time genetic testing to minimize lifetime adverse drug reactions. 
Alagoz O et al. Pharmacogenomics J. 2015 May 19.

To the editor: Clinical utility of warfarin pharmacogenomics. 
Smith DM et al. Cleve Clin J Med 2015 May 82(5) 268-9

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Reproductive Health

Effectiveness of prenatal screening for hemoglobinopathies in a developing country. 
Choudhuri S et al. Hemoglobin 2015 May 13. 1-4

Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. 
Benn Pr et al. Prenat. Diagn. 2015 May 13.

Predictive performance of a seven-plex antibody array in prenatal screening for Down syndrome. 
Pennings JL et al. Dis. Markers 2015 2015519851 

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Reviews, News and Commentaries

Nutrigenomics: A controversy
Pavlidis C Applied and Translational Genomics 2015 March

Precision medicine is here, break out your wallet
Hafez N Applied and Translational Genomics 2015 March

A vision for ubiquitous sequencing  [PDF 1.27 MB]
Yaniv Erlich bioRxiv 2015 May 7

Weighing the promises of big genomics, by David Dobbs, Buzz Feed, May 21

CRISPR battles on two fronts, by Rebecca Burbidge, PHG Foundation, May 20

Israel mulls setting up a population-scale genetic database, by Nick Paul Taylor, Fierce Biotech IT, May 19

Two women, two results: The agonizing wait for cancer gene tests, by Kate Snow, NBC News, May 19

CMS unveils draft LCD for BRCA1 and BRCA2 genetic tests, GEN News, May 18

Doctors, parents try to unravel SCN8A gene's role in epilepsy, by Michael Halpern, Scientific American Blog , May 18

Gene therapy for eye disease shows benefits and limitations, NIH Research Matters, May 18

Human ingenuity takes on cancer’s Darwinian ways, by George Johnson, New York Times, May 18

I love them, I love them not….. proposed revised Medicare guidelines for coverage of BRCA testing, by Robert Resta, The Exchange, May 17

David Sackett, the father of evidence-based medicine, dies at 80, by Julia Belluz, Vox, May 15

Rise of the superbugs? By Dr Laura Blackburn, PHG Foundation, May 15

U.S. introduces new DNA standard for ensuring accuracy of genetic tests, by Robert Pearmay, New York Times, May 14

Hidden errors: A watchdog report - Weak oversight allows lab failures to put patients at risk, by Ellen Gabler of the Journal Sentinel staff