Published on 12/15/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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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
Cancer
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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
Chronic Disease
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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
Ethics/Policy/Law
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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
Practice
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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
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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
Newborn Screening
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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
Pharmacogenomics
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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
Reproductive Health
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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
Tools/Databases
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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