Published on 12/15/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
Improving diagnosis for congenital cataract by introducing NGS genetic testing.
Musleh Mohammud et al. BMJ quality improvement reports 2016 5(1)
Associations between genetics, medical status, physical exercise and psychological well-being in adults with cystic fibrosis.
Backström-Eriksson Lena et al. BMJ open respiratory research 2016 3(1) e000141
BRCA Status Does Not Predict Survival for Young Patients With Breast Cancer
J Daley, Cancer Therapy Advisor, December 9, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He Karen Y et al. PloS one 2016 11(12) e0167847
Translation and adaptation of skin cancer genomic risk education materials for implementation in primary care.
Rodríguez Vivian M et al. Journal of community genetics 2016 Dec
Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.
Lieberman Sari et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec
BRCA mutation genetic testing implications in the United States.
Bayraktar Soley et al. Breast (Edinburgh, Scotland) 2016 Dec 31224-232
Routine use of gene panel testing in hereditary breast cancer should be performed with caution.
van Marcke Cedric et al. Critical reviews in oncology/hematology 2016 Dec 10833-39
Precision Oncology: Epigenetic Patterns Predict Glioblastoma Outcomes
Francis Collins, NIH Directors' blog, December 9, 2016
Clinical Cancer Genetics Disparities among Latinos.
Cruz-Correa Marcia et al. Journal of genetic counseling 2016 Dec
ONCOLOGISTS' BARRIERS AND FACILITATORS FOR ONCOTYPE DX USE: QUALITATIVE STUDY.
Roberts Megan C et al. International journal of technology assessment in health care 2016 Dec 1-7
Delivering widespread BRCA testing and PARP inhibition to patients with ovarian cancer.
George Angela et al. Nature reviews. Clinical oncology 2016 Dec
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.
Clift Kristin et al. Prion 2016 Nov 10(6) 502-506
Genetics of Frontotemporal Dementia.
Olszewska Diana A et al. Current neurology and neuroscience reports 2016 Dec 16(12) 107
The Impact of Precision Medicine in Diabetes: A Multidimensional Perspective.
Rich Stephen S et al. Diabetes care 2016 Nov 39(11) 1854-1857
One Weight-Loss Approach Fits All? No, Not Even Close
G Kolata, NY Times, December 12, 2016
Dementia Research-A Roadmap for the Next Decade.
Traynor Bryan J, et al. JAMA neurology 2017 0 0. (2) 141-142
The Precision Medicine Initiative's All of Us Research Program: an agenda for research on its ethical, legal, and social issues.
Sankar Pamela L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec
The 21st Century Cures Act - A View from the NIH.
Hudson Kathy L, et al. The New England journal of medicine 2017 1 0. (2) 111-113
Implementing Precision Medicine: The Ethical Challenges.
Korngiebel Diane M et al. Trends in pharmacological sciences 2016 Dec
Precision Medicine, Diabetes, and the U.S. Food and Drug Administration.
Meyer Robert J et al. Diabetes care 2016 Nov 39(11) 1874-1878
Studies probe value and impact of direct-to-consumer genetic testing
Frontline Genomics, December 13, 2016
Genomic Competencies for Nursing Practice: Implications for Nursing Leadership.
Boyd Andrea M et al. The Journal of nursing administration 2017 Jan 47(1) 62-67
Precision Medicine, Genomics, and Public Health.
Arnett Donna K et al. Diabetes care 2016 Nov 39(11) 1870-1873
Personal-genome cancer-risk profile may not inspire lifestyle changes
L Rapaport, Reuters Health, December 13, 2016
Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study.
Gray Stacy W et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Dec JCO2016671503
Heart, Lung, Blood and Sleep Diseases
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez Olallo et al. PloS one 2016 11(12) e0167358
The Power of Simple Life Changes to Prevent Heart Disease
E Carroll, New York Times, December 12, 2016
Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.
et al. Atherosclerosis. Supplements 2016 Dec
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.
Wilson Callum et al. JIMD reports 2016 Dec
Utility of a precursor-to-product ratio in the evaluation of presumptive positives in newborn screening of congenital adrenal hyperplasia.
Tieh P Y et al. Journal of perinatology : official journal of the California Perinatal Association 2016 Dec
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
Clarke Lorne A et al. The Journal of pediatrics 2016 Dec
Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study.
Heidari Alireza et al. Electronic physician 2016 Oct 8(10) 3048-3056
People susceptible to the placebo effect may be keeping us from getting new drugs
E Vance, Washington Post, December 2016
Pharmacogenetics-guided analgesics in major abdominal surgery: Further benefits within an enhanced recovery protocol.
Senagore Anthony J et al. American journal of surgery 2016 Nov
First trimester pregnancy loss: Clinical implications of genetic testing.
Massalska Diana et al. The journal of obstetrics and gynaecology research 2016 Dec
Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
Govaerts Lutgarde et al. Prenatal diagnosis 2016 Dec
Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
Hui Winnie W I et al. Clinical chemistry 2016 Dec
Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.
Kauffman Tia L et al. Contemporary clinical trials 2016 Dec
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants.
Piñero Janet et al. Nucleic acids research 2016 Oct
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
Viennas Emmanouil et al. Nucleic acids research 2016 Oct