Published on 06/23/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice.
Shkedi-Rafid Shiri et al. European journal of human genetics : EJHG 2015 Oct 23(10) 1281-5 -
Developing a Unified Approach for Sickle Cell Disease
Am J Prev Pemd, July 2016 -
Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos Feliciano J et al. European journal of human genetics : EJHG 2015 Oct 23(10) -
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.
Bravenboer Nathalie et al. European journal of human genetics : EJHG 2015 Oct 23(10) -
Utility of Clinical High-Depth Next Generation Sequencing for Somatic Variant Detection in the PIK3CA Related Overgrowth Spectrum.
Hucthagowder Vishwanathan et al. Clinical genetics 2016 Jun -
Sickle-cell disease: managing comorbidities.
Lancet (London, England) 2016 6 0. (10037) 2480.Lancet (London, England) 2016 6 0. (10037) 2480 -
Sickle Cell Disease: A Continued Call to Action.
Hassell Kathryn L, et al. American journal of preventive medicine 2016 0 0. (1 Suppl 1) S1-2 -
Clinical utility gene card for: Arterial tortuosity syndrome.
Albuisson Juliette et al. European journal of human genetics : EJHG 2015 Oct 23(10)
Cancer
-
A pilot study of clinical targeted next generation sequencing for prostate cancer: Consequences for treatment and genetic counseling.
Cheng Heather H et al. The Prostate 2016 Jun -
Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up.
Kinney Anita Y et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jun -
The role of microRNAs in bladder cancer.
Enokida Hideki et al. Investigative and clinical urology 2016 Jun 57 Suppl 1S60-76 -
Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers.
Streff Haley et al. The oncologist 2016 Jun -
Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study.
van Erp Sanne J H et al. Scandinavian journal of gastroenterology 2016 Jun 1-6 -
Health Behaviors and their Relationship with Disease Control in People Attending Genetic Clinics with a Family History of Breast or Colorectal Cancer.
Anderson Annie S et al. Journal of genetic counseling 2016 Jun -
Health Care Disparities in Hereditary Ovarian Cancer: Are We Reaching the Underserved Population?
Randall Thomas C et al. Current treatment options in oncology 2016 Aug 17(8) 39 -
Usefulness of Canadian Public Health Insurance Administrative Databases to Assess Breast and Ovarian Cancer Screening Imaging Technologies for BRCA1/2 Mutation Carriers.
Larouche Geneviève et al. Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes 2016 Jun -
Roles of telomeres and telomerase in cancer, and advances in telomerase-targeted therapies.
Jafri Mohammad A, et al. Genome medicine 2016 0 0. (1) 69 -
Telomere and Telomerase Therapeutics in Cancer.
Xu Yucheng et al. Genes 2016 7(6) -
Telomere-associated aging disorders.
Opresko Patricia L et al. Ageing research reviews 2016 May -
NICE Breast Cancer quality standard, June 2016
-
The Role of microRNAs in the Diagnosis and Treatment of Pancreatic Adenocarcinoma.
Diab Maria et al. Journal of clinical medicine 2016 5(6) -
Biomarkers for the Clinical Use of PD-1/PD-L1 Inhibitors in Non-Small-Cell Lung Cancer: A Review.
Sacher Adrian G, et al. JAMA oncology 2016 9 0. (9) 1217-22 -
Telephone counseling can help make cancer genetic services more accessible to rural women
Medical News, June 21, 2016
Chronic Disease
-
Introducing Genetic Tests With Uncertain Implications in Living Donor Kidney Transplantation: ApoL1 as a Case Study.
Ross Lainie Friedman et al. Progress in transplantation (Aliso Viejo, Calif.) 2016 Jun -
Putting the Genome in Context: Gene-Environment Interactions in Type 2 Diabetes.
Franks Paul W et al. Current diabetes reports 2016 Jul 16(7) 57
Ethics/Policy/Law
-
Ethics committee gives nod for CRISPR trials on humans
R Bazeley, PHG Foundation, June 23, 2016 -
Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing.
Sénécal Karine et al. European journal of human genetics : EJHG 2016 Jun -
Knowing who to trust: exploring the role of 'ethical metadata' in mediating risk of harm in collaborative genomics research in Africa.
de Vries Jantina et al. BMC medical ethics 2014 1562 -
Genomic cloud computing: legal and ethical points to consider.
Dove Edward S et al. European journal of human genetics : EJHG 2015 Oct 23(10) 1271-8 -
The best interests of the child and the return of results in genetic research: international comparative perspectives.
Zawati Ma'n H et al. BMC medical ethics 2014 1572
Practice
-
Pre-Examination Factors Affecting Molecular Diagnostic Test Results and Interpretation: a Case-Based Approach.
Payne Deborah A et al. Clinica chimica acta; international journal of clinical chemistry 2016 Jun -
Thirteen Years of an International External Quality Assessment Scheme for Genotyping: Results and Recommendations.
Haselmann Verena et al. Clinical chemistry 2016 Jun -
Alternative RNA splicing: contribution to pain and potential therapeutic strategy.
Donaldson Lucy F et al. Drug discovery today 2016 Jun -
The Healthy Aging Data Portal
-
Effect of Public Deliberation on Attitudes toward Return of Secondary Results in Genomic Sequencing.
Gornick Michele C et al. Journal of genetic counseling 2016 Jun -
Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England.
Salway Sarah et al. Journal of community genetics 2016 Jun -
Personalizing Medicine: Disease Prevention in Silico and in Socio
S Green et al HM Journal Philos Studies, June 2016 -
Taming the genome: towards better genetic test interpretation.
Caleshu Colleen, et al. Genome medicine 2016 0 0. (1) 70 -
Blazing paths in genetic counseling
E Pain, Science Magazine, June 23, 2016
Heart, Lung, Blood and Sleep Diseases
-
Long Noncoding RNA: Recent Updates in Atherosclerosis.
Li Hao et al. International journal of biological sciences 2016 12(7) 898-910 -
Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients.
Spoonamore Katherine G et al. Frontiers in cardiovascular medicine 2016 314 -
From the RNA world to the clinic.
Sullenger Bruce A et al. Science (New York, N.Y.) 2016 Jun 352(6292) 1417-20 -
The "Double" Paradox of Atrial Fibrillation in Black Individuals.
Stamos Thomas D, et al. JAMA cardiology 2016 0 0. (4) 377-9
Newborn Screening
-
Consent for newborn screening: parents' and health-care professionals' experiences of consent in practice.
Etchegary Holly et al. European journal of human genetics : EJHG 2016 Jun -
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Narravula Alekhya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun -
Newborn genetic screening for hearing impairment: a population-based longitudinal study.
Wu Chen-Chi et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun -
Newborn Screening Programs and Sickle Cell Disease: A Public Health Services and Systems Approach.
Minkovitz Cynthia S et al. American journal of preventive medicine 2016 Jul 51(1 Suppl 1) S39-47
Pharmacogenomics
-
EMR Documentation of Physician-Patient Communication Following Genomic Counseling for Actionable Complex Disease and Pharmacogenomic Results.
Sweet Kevin et al. Clinical genetics 2016 Jun -
Comparison of genome sequencing and clinical genotyping for pharmacogenes.
Yang Wenjian et al. Clinical pharmacology and therapeutics 2016 Jun -
Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services.
Hicks J Kevin et al. Pharmacotherapy 2016 Jun -
FDA drug labeling: rich resources to facilitate precision medicine, drug safety, and regulatory science.
Fang Hong et al. Drug discovery today 2016 Jun -
Guideline on good pharmacogenomic practice,
European Medicine Agency, Science Medicines Health, April 28, 2016 -
Virtual Pharmacist: A Platform for Pharmacogenomics.
Cheng Ronghai et al. PloS one 2015 10(10) e0141105 -
Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.
Manzi Shannon F et al. Journal of the American Medical Informatics Association : JAMIA 2016 Jun
Reproductive Health
-
Patient Decision Aids for Prenatal Genetic Testing: Probability, Embodiment, and Problematic Integration.
Kirkscey Russell et al. Health communication 2016 Jun 1-10 -
Prenatal testing in Huntington disease: after the test, choices recommence.
Bouchghoul Hanane et al. European journal of human genetics : EJHG 2016 Jun -
Background of couples undergoing non-invasive prenatal testing in Japan.
Takeda Eri et al. The journal of obstetrics and gynaecology research 2016 Jun -
Second-generation non-invasive high-throughput DNA sequencing technology in the screening of Down's syndrome in advanced maternal age women.
Zhang Jiao et al. Biomedical reports 2016 Jun 4(6) 715-718 -
The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomes.
Dotters-Katz Sarah K et al. European journal of obstetrics, gynecology, and reproductive biology 2016 Jun 203173-176
News/ Reviews/Comments
-
Hilary Burton: Get on board with genomics—a call to all clinicians
BMJ, June 21, 2016 -
First Human Test of CRISPR Proposed,
by Antonio Regalado , MIT Technology Review, June 16, 2016 -
Updated NICE quality standard recommends Oncotype DX® in early-stage breast cancer,
Response Source, June 20, 2016