Published on 04/07/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).
McWilliams Laurie M et al. J Allergy Clin Immunol Pract 2015 Mar 27. -
The Chhattisgarh state screening programme for the sickle cell gene: a cost-effective approach to a public health problem.
Patra P K et al. J Community Genet 2015 Mar 31. -
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu Saadet et al. Epilepsia 2015 Mar 25. -
The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.
Bowdin S C et al. Clin. Genet. 2015 Feb 25.
Cancer
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The Cancer Genome Atlas (TCGA): an immeasurable source of knowledge.
Tomczak Katarzyna, et al. Contemporary oncology (Poznan, Poland) 2015 0 0. (1A) A68-77 -
Impact of melanoma genetic test reporting on perceived control over melanoma prevention.
Aspinwall Lisa G et al. J Behav Med 2015 Mar 31. -
Survival benefit in women with BRCA1 mutation or familial risk in the MRI Screening Study (MRISC).
Saadatmand S et al. Int. J. Cancer 2015 Mar 26. -
Assessing individual risk for high-risk colorectal adenoma at first-time screening colonoscopy.
Cao Yin et al. Int. J. Cancer 2015 Mar 26. -
Society of Gynecologic Oncology recommendations for the prevention of ovarian cancer.
Walker Joan L et al. Cancer 2015 Mar 27. -
Organoid modeling for cancer precision medicine
Cantrell M et al. Genome Medicine 2015, 7:32 -
Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation.
Farrelly Ashley et al. Fam. Cancer 2015 Mar 29. -
Discrepancies between ESMO and NCCN breast cancer guidelines: An appraisal.
Zagouri Flora et al. Breast 2015 Mar 24. -
One size may not fit all: The debate of universal tumor testing for Lynch syndrome.
Lu Karen H et al. Gynecol. Oncol. 2015 Apr 137(1) 2-3 -
Worse Breast Cancer Prognosis of BRCA1/BRCA2 Mutation Carriers: What's the Evidence? A Systematic Review with Meta-Analysis.
van den Broek Alexandra J et al. PLoS ONE 2015 10(3) e0120189 -
Genetically at-risk status and individual agency. A qualitative study on asymptomatic women living with genetic risk of breast/ovarian cancer.
Caiata-Zufferey Maria et al. Soc Sci Med 2015 Mar 19. 132141-148 -
Bilateral Risk-Reduction Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Meta-analysis.
De Felice Francesca et al. Ann. Surg. Oncol. 2015 Mar 26. -
Knowledge about breast cancer and hereditary breast cancer among nurses in a public hospital.
Prolla Carmen Maria Dornelles et al. Rev Lat Am Enfermagem 23(1) 90-7 -
Uncovering the clinical utility of miR-143, miR-145 and miR-224 for predicting the survival of bladder cancer patients following treatment.
Avgeris Margaritis et al. Carcinogenesis 2015 Mar 24. -
Development and validation of a clinical score for predicting risk of adenoma at screening colonoscopy.
Shaukat Aasma et al. Cancer Epidemiol. Biomarkers Prev. 2015 Mar 23. -
Japanese Society of Medical Oncology Clinical Guidelines: RAS (KRAS/NRAS) mutation testing in colorectal cancer patients.
Taniguchi Hiroya et al. Cancer Sci. 2015 Mar 106(3) 324-7 -
CEDCD (Cancer Epidemiology Descriptive Cohort Database)
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Open Comment Period - ASCP/CAP/AMP/ASCO Guideline on the Evaluation of Molecular Markers for Colorectal Cancer Draft Recommendations
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Cancer whole-genome sequencing: present and future.
Nakagawa H et al. Oncogene 2015 Mar 30.
Chronic Disease
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Heterogeneous Phenotype of Long QT Syndrome Caused by the KCNH2-H562R Mutation: Importance of Familial Genetic Testing.
Muñoz-Esparza Carmen et al. Rev Esp Cardiol (Engl Ed) 2015 Mar 25. -
[The impact of screening sickle-cell carriers in the general population. A retrospective study in the Paris screening center].
Lainé A et al. Rev Epidemiol Sante Publique 2015 Mar 26.
Ethics/Policy/Law
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Demographic Differences in Willingness to Provide Broad and Narrow Consent for Biobank Research.
Ewing Altovise T et al. Biopreserv Biobank 2015 Mar 31. -
Legal, ethical issues loom over topic of recontacting patients: Advances in research, next-generation sequencing lead geneticists to consider approaching former patients with results about genetic variants.
Am. J. Med. Genet. A 2015 Apr 167(4) vii-viii -
An Adoptive Parental Perspective on Personal Genomic Screening.
May Thomas et al. Pediatrics 2015 Mar 9.
Practice
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The effect of disease risk probability and disease type on interest in clinic-based versus direct-to-consumer genetic testing services.
Sherman Kerry et al. J Behav Med 2015 Mar 27. -
Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing.
Carere Deanna Alexis et al. Genet. Med. 2015 Mar 26. -
Changes in food group and nutrient intakes following a DNA-based dietary advice intervention for sodium intake
Nielsen D, et al. The FASEB Journal April 2015 -
Genetic linkage analysis in the age of whole-genome sequencing.
Ott Jurg et al. Nat. Rev. Genet. 2015 Mar 31.
Pharmacogenomics
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Potential use of auxiliary labels to promote patient awareness of pharmacogenetic testing.
Haga Susanne B et al. Pharmacogenomics 2015 Mar 16(4) 299-301 -
Implementation and evaluation of a CYP2C19 genotype-guided antiplatelet therapy algorithm in high-risk coronary artery disease patients.
Lee John Andrew et al. Pharmacogenomics 2015 Mar 16(4) 303-13 -
Improvements in CYP2C9 genotyping accuracy are needed: a report of the first proficiency testing for warfarin-related CYP2C9 and VKORC1 genotyping in China.
Lin Guigao et al. J. Cardiovasc. Pharmacol. 2015 Mar 26.
Reproductive Health
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Pre-natal genetic counseling in a resource limited country--a single center geneticist's perspectives.
Afroze Bushra et al. J Pak Med Assoc 2014 Sep 64(9) 1008-11 -
Cell-free DNA Analysis for Noninvasive Examination of Trisomy.
Norton Mary E et al. N. Engl. J. Med. 2015 Apr 1. -
Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results.
Snyder Matthew W et al. N. Engl. J. Med. 2015 Apr 1. -
NIPT outperforms standard screening for T21 but false positives call for caution, NEJM studies find,
Genome Web, Apr 1 [by free subscription only]
News/ Reviews/Comments
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Trying to fool cancer,
by Mikkael A. Sekeres, The New York Times, Mar 28 -
Paul Glasziou: Six proposals for evidence based medicine?s future,
the BMJ, Mar 27 -
Resisting cancer,
by George Klein, the Scientist, Apr 1 -
NIH's Collins on changing the future of medicine,
Medscape, Mar 31 [by free subscription only] -
Scientists create a new "roadmap" for the human epigenome,
by Sara Cassidy, NIH, Mar 30 -
Largest set of human genomes from a single population is sequenced.
Mayor Susan et al. BMJ 2015 350h1720 -
Epidemiology's Continuing Contribution to Public Health: The Power of "Then and Now".
Buck Louis Germaine M et al. Am. J. Epidemiol. 2015 Mar 25. -
NIH forms team of experts to chart course for the President?s Precision Medicine Initiative research network,
NIH News, Mar 30 -
Knocking out melanoma: Does this triple combo have what it takes?
By Dr. Francis Collins, NIH Director?s Blog, Mar 31 -
Ovarian cancer: Learning the risks,
The New York Times, Mar 30 -
Sizing up your genes,
by Melanie Young, The Huffington Blog Post, Mar 29 -
Genomics needs a killer app,
by Mark Kaganovich, Tech Crunch, Mar 27 -
Genetics societies issue recommendations for fetal DNA tests,
by Ricki Lewis, Medcape, Mar 27 [by free subscription only] -
CAP, AMP Among groups jointly issuing colorectal cancer molecular testing draft recommendations,
Genome Web, Mar 30 [by free subscription only]