Published on 04/17/2015
Human Genomics across the Lifespan
Cancer
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On the Road to Precision Cancer Medicine: Analysis of Genomic Biomarker Actionability in 439 Patients.
Schwaederle Maria et al. Mol. Cancer Ther. 2015 Apr 7. -
Early diffusion of gene expression profiling in breast cancer patients associated with areas of high income inequality.
Ponce Ninez A et al. Health Aff (Millwood) 2015 Apr 1. 34(4) 609-15 -
Prediction of breast cancer risk based on profiling with common genetic variants.
Mavaddat Nasim et al. J. Natl. Cancer Inst. 2015 May 107(5) -
Prospective study of the impact of the Prosigna assay on adjuvant clinical decision-making in unselected patients with estrogen receptor-positive, HER2-negative, node-negative early-stage breast cancer.
Martín Miguel et al. Curr Med Res Opin 2015 Apr 8. 1-28 -
Breast cancer subtype intertumor heterogeneity: MRI-based features predict results of a genomic assay.
Sutton Elizabeth J et al. J Magn Reson Imaging 2015 Apr 7. -
Patient perceptions of stool DNA testing for pan-digestive cancer screening: a survey questionnaire.
Yang Dennis et al. World J. Gastroenterol. 2014 May 7. 20(17) 4972-9 -
The psychological impact of undergoing genetic-risk profiling in men with a family history of prostate cancer.
Bancroft Elizabeth K et al. Psychooncology 2015 Apr 14. -
The Sooner the Better: Genetic Testing Following Ovarian Cancer Diagnosis.
Fox E et al. Gynecol. Oncol. 2015 Apr 10. -
Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer.
Cragun D et al. Breast Cancer Res. Treat. 2015 Apr 14. -
Known susceptibility SNPs for sporadic prostate cancer show a similar association with "hereditary" prostate cancer.
Cremers Ruben G et al. Prostate 2015 Apr 1. 75(5) 474-83 -
Randomized Trial of Telegenetics vs. In-Person Cancer Genetic Counseling: Cost, Patient Satisfaction and Attendance.
Buchanan Adam H et al. J Genet Couns 2015 Apr 3. -
Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators.
Schneider Jennifer L, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 2 0. (2) 152-61 -
The contributions of breast density and common genetic variation to breast cancer risk.
Vachon Celine M et al. J. Natl. Cancer Inst. 2015 May 107(5) -
Comparison of next-generation sequencing and mutation-specific platforms in clinical practice.
Hinrichs John W J et al. Am. J. Clin. Pathol. 2015 Apr 143(4) 573-8 -
The genomic expression test EndoPredict is a prognostic tool for identifying risk of local recurrence in postmenopausal endocrine receptor-positive, her2neu-negative breast cancer patients randomised within the prospective ABCSG 8 trial.
Fitzal F et al. Br. J. Cancer 2015 Apr 14. 112(8) 1405-1410
Chronic Disease
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The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.
Hrabik Sarah A et al. J. Child Neurol. 2015 Apr 10. -
"It's good to know": Experiences of gene identification and result disclosure in familial epilepsies.
Vears Danya F et al. Epilepsy Res. 2015 May 11264-71 -
Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces.
Semsarian Christopher et al. Trends Cardiovasc. Med. 2015 Mar 6. -
Limited clinical utility of genotype-guided warfarin initiation dosing algorithms versus standard therapy: a meta-analysis and trial sequential analysis of 11 randomized controlled trials.
Tang H L et al. Pharmacogenomics J. 2015 Apr 14.
Ethics/Policy/Law
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How state and federal policies as well as advances in genome science contribute to the high cost of cancer drugs.
Ramsey Scott D et al. Health Aff (Millwood) 2015 Apr 1. 34(4) 571-5 -
Policy and Privacy and ...,
Genome Web, Apr 14 [by free subscription only] -
Shill gambit: Are geneticists who work for corporations less ethical than university researchers?
By Layla Katiraee, Genetic Literacy Project, Apr 14
Practice
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Family decision maker perspectives on the return of genetic results in biobanking research.
Siminoff Laura A et al. Genet. Med. 2015 Apr 9. -
Perspectives on genetic and genomic technologies in an academic medical center: the duke experience.
Katsanis Sara Huston et al. J Pers Med 2015 5(2) 67-82 -
Genetic testing: ACMG guides on the interpretation of sequence variants.
Bahcall Orli G et al. Nat. Rev. Genet. 2015 Apr 9. -
The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research.
Ritchie Marylyn D et al. Front Genet 2015 6104 -
Genomic sequencing and the impact of molecular diagnosis on patient care.
Solomon Benjamin D et al. Mol Syndromol 2015 Feb 6(1) 4-6 -
On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.
May Thomas et al. J Law Med Ethics 2015 Mar 43(1) 134-42 -
Views of nonmedical, health system professionals regarding the return of whole genome sequencing incidental findings.
Strong A et al. WMJ 2014 Oct 113(5) 179-84 -
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin Heather M et al. BMC Med. Genet. 2014 15134 -
Psychological impact of family history risk assessment in primary care: a mixed methods study.
Birt Linda et al. Fam Pract 2014 Aug 31(4) 409-18 -
Genetics and the placebo effect: the placebome.
Hall Kathryn T, et al. Trends in molecular medicine 2015 5 0. (5) 285-94
Reproductive Health
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[Prenatal diagnosis of fetal chromosome aneuploidy by massively parallel genomic sequencing].
Jin Yuxia et al. Zhonghua Yi Xue Za Zhi 2014 Jun 17. 94(23) 1788-90 -
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability.
Pfundt Rolph, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 2 0. (2) 168-73 -
It's complicated - Factors predicting decisional conflict in prenatal diagnostic testing.
Muller Cécile et al. Health Expect 2015 Apr 13.
Tools/Databases
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GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.
Antanaviciute Agne et al. Bioinformatics 2015 Apr 9. -
GeneMed: An Informatics Hub for the Coordination of Next-Generation Sequencing Studies that Support Precision Oncology Clinical Trials.
Zhao Yingdong et al. Cancer Inform 2015 14(Suppl 2) 45-55
News/ Reviews/Comments
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California unveils 'precision-medicine' project,
by Erika Check Hayden, Nature News, Apr 14 -
IBM creates Watson Health to analyze medical data,
by Steve Lohr, New York Times Blog Post, Apr 13 -
New guidance on cervical cancer screening,
by Deborah Levenson, AACC, Apr 1 -
Obama's personalized medicine plan advances,
by Tim Sandle, Digital Journal, Apr 11 -
Cancer treatment gets more personalised than ever,
by Dr Philippa Brice, PHG Foundation, Apr 8 -
Rare variants in complex disease: ABCA7 and Alzheimer's,
by Dan Koboldt, Mass Genomics, Apr 6 -
Genetic testing key to finding high risk cancer patients,
WOWT, Apr 14 -
How to get all trials reported: audit, better data, and individual accountability.
Goldacre Ben, et al. PLoS medicine 2015 4 0. (4) e1001821 -
Should oncologists be ordering breast cancer gene panels?
By Caroline Helwick, ASCO Post, Apr 10 -
Can cancer be stopped?: One of the world's most decorated doctors on the remarkable progress made and the daunting road ahead,
by Harold Varmus, New York Daily News, Apr 12 -
£5m stratified medicine programme launched to personalise care for bowel cancer patients,
Cancer Research UK, Apr 14 -
Cancer mutations often misidentified in the clinic,
by Heidi Ledford, Nature News, Apr 15 -
For modern parents, how to weigh pros and cons of sequencing baby's genome,
by Helen Thomson, Genetic Literacy Project, Apr 14 -
The placebome: Where genetics and the placebo effect meet,
Eurekalert, Apr 13 -
Health: Make precision medicine work for cancer care,
by Mark A, Rubin, Nature News, Apr 15 -
Disrupting prenatal care -- a revolution is underway,
Medcape, Apr 13 [by free subscription only] -
Personomics.
Ziegelstein Roy C, et al. JAMA internal medicine 2015 6 0. (6) 888-9 -
The 'Angelina Effect' in genetic cancer testing,
Boise Weekly, Apr 12
Eventr
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"The Future of Genetics in Healthcare: From Sequencing to Treatment"
April 23 ~ Boston, MA -
The Genomics of Common Diseases 2015
September 2-5 ~ Cambridge, UK