Published on 12/03/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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"Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches".
Butler Merlin G et al. Current pediatric reviews 2015 Nov -
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).
et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2015 Jul 24(3) 77-105 -
High cost effectiveness of newborn screening for sickle cell disease in resource-limited Angola.
Long Sarah S et al. The Journal of pediatrics 2015 Dec 167(6) 1179-82 -
Molecular analysis of patients suspected of Fragile X Syndrome.
Amancio A P et al. Genetics and molecular research : GMR 2015 14(4) 14660-9 -
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management, and follow-up of the syndrome.
Mussa Alessandro et al. European journal of medical genetics 2015 Nov -
Finding Motivation: Online Information Seeking Following Newborn Screening for Cystic Fibrosis.
Strekalova Yulia A et al. Qualitative health research 2015 Nov
Cancer
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Oncologists Encouraged to Learn More About Lesser-Known Heritable Gastrointestinal Cancers,
by Caroline Helwick, ASCO Post, November 25, 2015 -
Understanding of BRCA VUS genetic results by breast cancer specialists.
Eccles B K et al. BMC cancer 2015 15(1) 936 -
Adjuvant Chemotherapy Use and Health Care Costs After Introduction of Genomic Testing in Breast Cancer.
Epstein Andrew J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Nov -
Longer term effects of the Angelina Jolie effect: increased risk-reducing mastectomy rates in BRCA carriers and other high-risk women.
Evans D Gareth et al. Breast cancer research : BCR 2015 17(1) 143 -
Management of Thyroid Nodular Disease: Current Cytopathology Classifications and Genetic Testing.
Kuo Lindsay E et al. Surgical oncology clinics of North America 2016 Jan 25(1) 1-16 -
Prospective Evaluation of the 21-Gene Recurrence Score Assay for Breast Cancer Decision-Making in Ontario.
Levine Mark N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Nov -
Journey through the clinics - The experience of a woman with BRCA2.
Abernethy Kathy et al. Post reproductive health 2015 Dec 21(4) 158-60 -
Comparison of Oncotype DX Recurrence Score by Histologic Types of Breast Carcinoma.
Bomeisl Philip E et al. Archives of pathology & laboratory medicine 2015 Dec 139(12) 1546-9 -
Effect of Gene Expression Classifier Molecular Testing on the Surgical Decision-Making Process for Patients With Thyroid Nodules.
Noureldine Salem I et al. JAMA otolaryngology-- head & neck surgery 2015 Nov 1082-1088 -
Experience with targeted next generation sequencing for the care of lung cancer: insights into promises and limitations of genomic oncology in day-to-day practice.
Rangachari Deepa et al. Cancer treatment communications 4174-181 -
Maternal Malignancies Detected With Noninvasive Prenatal Testing.
Sistermans Erik et al. JAMA 2015 Nov 314(20) 2192 -
Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities.
Vindigni Stephen M et al. Digestive diseases and sciences 2015 Nov -
Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.
Raymond Victoria M et al. Journal of the National Cancer Institute 2016 Apr 108(4)
Chronic Disease
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Genetic Risk Score Distinguishes Between Diabetes Types,
by Miriam E Tucker, Medscape, November 23, 2015
Ethics/Policy/Law
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Attitudes towards the sharing of genetic information with at-risk relatives: results of a quantitative survey.
Heaton Timothy J et al. Human genetics 2015 Nov -
Germ line genome editing in clinics: the approaches, objectives and global society.
Ishii Tetsuya et al. Briefings in functional genomics 2015 Nov -
The Privacy Challenges We All Face With Our Personal Genomes,
by Manuel Corpas, Front Line Genomics, November 30, 2015 -
The Legal Environment for Precision Medicine.
Thompson Bradley et al. Clinical pharmacology and therapeutics 2015 Nov
Practice
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Family history intake: a challenge to personalized approaches in health promotion and disease prevention.
Endevelt Ronit et al. Israel journal of health policy research 460 -
PART of the WHOLE: A Case Study in Wellness-Oriented Personalized Medicine.
Gibson Greg et al. The Yale journal of biology and medicine 2015 Dec 88(4) 397-406 -
Practical considerations in genomic decision support: The eMERGE experience.
Herr Timothy M et al. Journal of pathology informatics 650 -
Practical Advice for Developing a Genetic Testing Program,
by Theodore Bosworth, Medscape, November 30, 2015 -
Statement of principles on the return of research results and incidental findings in paediatric research: a multi-site consultative process.
Sénécal Karine et al. Genome / National Research Council Canada = Genome / Conseil national de recherches Canada 2015 Nov 1-8 -
Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.
Wu R Ryanne et al. Implementation science : IS 2015 10(1) 163
Heart, Lung, Blood and Sleep Diseases
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JAMA PATIENT PAGE. PCSK9 Inhibitors for Treating High Cholesterol.
Jin Jill, et al. JAMA 2015 12 0. (21) 2320 -
Improving detection of familial hypercholesterolaemia in primary care using electronic audit and nurse-led clinics.
Green Peter et al. Journal of evaluation in clinical practice 2015 Nov -
CardioGenBase: A Literature Based Multi-Omics Database for Major Cardiovascular Diseases.
V Alexandar et al. PloS one 10(12) e0143188
Pharmacogenomics
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The use of pharmacogenetics in clinical practice for the treatment of individuals with HIV infection in Thailand.
Bushyakanist Asalaysa et al. Pharmacogenomics and personalized medicine 8163-170 -
The 3-I framework: a framework for developing public policies regarding pharmacogenomics (PGx) testing in Canada.
Bashir Naazish S et al. Genome / National Research Council Canada = Genome / Conseil national de recherches Canada 2015 Nov 1-14 -
Cost-effectiveness of CYP2B6 genotyping to optimize efavirenz dosing in HIV clinical practice.
Schackman Bruce R et al. Pharmacogenomics 2015 Nov -
The role of ADME pharmacogenomics in early clinical trials: perspective of the Industry Pharmacogenomics Working Group (I-PWG).
Tremaine Larry et al. Pharmacogenomics 2015 Nov -
EHR based Genetic Testing Knowledge Base (iGTKB) Development.
Zhu Qian et al. BMC medical informatics and decision making 2015 Nov 15(Suppl 4) S3
Reproductive Health
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Reliability and Validity of the March of Dimes Preconception/Prenatal Family Health History Questionnaire: the Persian Version.
Mashhadi Abdolahi Hossein et al. Congenital anomalies 2015 Nov
Tools/Databases
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Database resources of the National Center for Biotechnology Information.
et al. Nucleic acids research 2015 Nov
News/ Reviews/Comments
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Charting a course for genomic sequencing in patient care,
NHGRI, November 25, 2015 -
Parents May Pass Down More Than Just Genes, Study Suggests,
by Carl Zimmer, New York Times, December 3, 2015 -
A debate: Should we edit the human germline?
By Patrick Skerrett , Stat News, November 30, 2015 -
No longer invisible: the faces of rare disease,
by Melissa Bailey, Stat News, November 30, 2015 -
Epigenetics the real key to everything?
Genomics Education Programme, November 26, 2015 -
San Diego Blood Donors Get Free Genome Sequencing,
by David Wagner, KBPS, November 24, 2015 -
DNA repair factor linked to breast cancer may also play a role in Alzheimers disease,
NIH News, November 30, 2015 -
The Angelina Jolie effect,
by Sarah Theissen, BioMed Central Blog, November 25, 2015 -
Precision Medicine: Who Will Own the Data?
Medscape, November 24, 2015 -
FDA approves rosuvastatin for use in youth aged 8 to 17 with HeFH,
Healio, November 30, 2015 -
ASCO: Expanded genetic testing should be standard for metastatic colorectal cancer,
Healio, November 25, 2015 -
The promise of gene editing,
by Fergus Walsh, BBC News, December 1, 2015 -
Genetic Testing: What It Means for You and Your Family,
Everyday Health, December 2, 2015 -
Gene Editing Gets Easier as Experts Discuss Fears,
by Maggie Fox, NBC News, December 1, 2015