Published on 11/22/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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CFTR Modulator Therapy for Cystic Fibrosis.
Grasemann Hartmut et al. The New England journal of medicine 2017 Nov -
The Actionability of Exome sequencing testing results.
Stivers Tanya et al. Sociology of health & illness 2017 Nov 39(8) 1542-1556 -
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller Hanns, et al. European journal of human genetics : EJHG 2017 12 0. (12) 1293-1302 -
Marking 15 years of the Genetic and Rare Diseases Information Center.
Lewis Janine et al. Translational science of rare diseases 2017 May 2(1-2) 77-88 -
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
Schofield Deborah et al. NPJ genomic medicine 2017 2 -
A Wish Realized: Genetic testing solves a family medical mystery
Mayo Clinic, Nov 16, 2017 -
Extreme Parenting: How the mothers and fathers of children with ultra rare disorders spearhead their own support and research strategies.
K Edwards, Genome Magazine, Nov 16, 2017 -
A Life Saved By Genetic Sequencing
K Raven, Yale Medicine, Nov 20, 2017 -
Man Receives First In Vivo Gene-Editing Therapy- The 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.
K Grens, The Scientist, Nov 15, 2017 -
Progress in Diagnostic Genetic Testing for Inherited Eye Disease.
Wiggs Janey L et al. JAMA ophthalmology 2017 Nov -
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
Rim John Hoon et al. JAMA ophthalmology 2017 Nov -
Telomere Length and Childhood Stress Dont Always Correlate
K Zimmer, the Scientist, Nov 17, 2017
Cancer
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Genetics and Genomics: An Oncology Nurse's Journey in Practice.
Mahon Suzanne M et al. Clinical journal of oncology nursing 2017 Dec 21(6) 715-721 -
Precision Medicine: Accelerating the Science to Revolutionize Cancer Care
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Brant Jeannine M et al. Clinical journal of oncology nursing 2017 Dec 21(6) 722-729 -
The evolving role of genomic testing in assessing prognosis of patients with myelodysplastic syndromes.
Steensma David P et al. Best practice & research. Clinical haematology 2017 Dec 30(4) 295-300 -
Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
Rosenthal Eric T et al. Cancer genetics 2017 Dec 218-21958-68 -
Analysis of factors influencing molecular testing at diagnostic of colorectal cancer.
Thiebault Quentin et al. BMC cancer 2017 Nov 17(1) 765 -
New Histopathological & Genetic Features to Improve Active Surveillance Selection for Low-Risk Prostate Cancer.
Wong Lih-Ming et al. Anti-cancer agents in medicinal chemistry 2017 Nov -
The European Society for Medical Oncology (ESMO) Precision Medicine Glossary.
Yates L R et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Nov -
The utility of blood neuroendocrine gene transcript measurement in the diagnosis of bronchopulmonary neuroendocrine tumours and as a tool to evaluate surgical resection and disease progression.
Filosso Pier Luigi et al. European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2017 Nov -
Germline Genetic Features of Young Individuals with Colorectal Cancer.
Stoffel Elena M et al. Gastroenterology 2017 Nov -
Efficacy of proximal colectomy for surgical management of right-sided first colorectal cancer in Lynch Syndrome mutation carriers.
Hiatt Molly J et al. American journal of surgery 2017 Nov -
Novel Strategies on Personalized Medicine for Breast Cancer Treatment: An Update.
Chan Carmen W H et al. International journal of molecular sciences 2017 Nov 18(11) -
The Predictive Value of PITX2 DNA Methylation for High-Risk Breast Cancer Therapy: Current Guidelines, Medical Needs, and Challenges.
Aubele Michaela et al. Disease markers 2017 20174934608 -
A metastasis biomarker (MetaSite Breast™ Score) is associated with distant recurrence in hormone receptor-positive, HER2-negative early-stage breast cancer.
Sparano Joseph A et al. NPJ breast cancer 2017 342 -
The Era of Multigene Panels Comes? The Clinical Utility of Oncotype DX and MammaPrint.
Xin Ling et al. World journal of oncology 2017 Apr 8(2) 34-40 -
Impact of Oncotype DX on chemotherapy assignment: a retrospective single-center study on female breast cancer patients.
Panousis Dimitris et al. Journal of B.U.ON. : official journal of the Balkan Union of Oncology 22(5) 1199-1208 -
A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings.
Rana Huma Q et al. Journal of community genetics 2017 Nov -
Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine.
Cheng Liang et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Nov -
Biological and clinical implications of telomere dysfunction in myeloid malignancies.
Kishtagari Ashwin et al. Therapeutic advances in hematology 2017 Nov 8(11) 317-326 -
CU doctor's work on hereditary cancer took him halfway around the world to help a woman and her family
J Anderson, World Herald, Nov 17, 2017 -
Dr. Henry Lynch to be honored again for his cancer research
J Anderson, World Herald, Nov 17, 2017 -
These 14 Women Are Grateful for Their BRCA DiagnosisHeres Why
J Sinrich, Readers Digest, Nov 2017 -
Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer.
Park Sungmin et al. World journal of surgery 2017 Nov -
Impact of a decision aid about stratified ovarian cancer risk-management on women's knowledge and intentions: a randomised online experimental survey study.
Meisel Susanne F et al. BMC public health 2017 Nov 17(1) 882 -
Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
Zlotogora Joël et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov -
Core Clinical Data Elements for Cancer Genomic Repositories: A Multi-stakeholder Consensus.
Conley Robert B et al. Cell 2017 Nov 171(5) 982-986 -
Biospecimen donation among black and white breast cancer survivors: opportunities to promote precision medicine.
Sheppard Vanessa B et al. Journal of cancer survivorship : research and practice 2017 Nov
Chronic Disease
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Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease.
Snoek Rozemarijn et al. Kidney international 2017 Dec 92(6) 1325-1327 -
Genetic testing for exercise prescription and injury prevention: AIS-Athlome consortium-FIMS joint statement.
Vlahovich Nicole et al. BMC genomics 2017 Nov 18(Suppl 8) 818 -
Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease.
Hunter S et al. Molecular psychiatry 2017 Nov -
What if You Knew Alzheimers Was Coming for You?
P Kennedy, NY Times, Nov 17, 2017 -
Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa.
Adadey Samuel Mawuli et al. Omics : a journal of integrative biology 2017 Nov 21(11) 638-646
Ethics/Policy/Law
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Ethics and Genetics: Examining a Crossroads in Nursing Through a Case Study
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Curr Beamer Laura Curr et al. Clinical journal of oncology nursing 2017 Dec 21(6) 730-737 -
Consent, ethics and genetic biobanks: the case of the Athlome project.
Thompson Rachel et al. BMC genomics 2017 Nov 18(Suppl 8) 830 -
Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape.
Kalokairinou L et al. Journal of community genetics 2017 Nov -
CRISPR cas9 - licensing the unlicensable.
Storz Ulrich et al. Journal of biotechnology 2017 Nov -
What You Need to Know About FDA Oversight of Genomics Research
C Wagner, NHGRI, Nov 18. 2017 -
Designing Ethical Trials of Germline Gene Editing.
Cwik Bryan et al. The New England journal of medicine 2017 Nov 377(20) 1911-1913 -
Gene therapy: evidence, value and affordability in the US health care system.
Hampson Grace et al. Journal of comparative effectiveness research 2017 Nov -
Re-Framing Biotechnology Regulation.
Peck Alison et al. Food and drug law journal 72(2) 314-40
Practice
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Errors in Genetic Testing: Common Causes and Strategies for Prevention.
Mahon Suzanne M et al. Clinical journal of oncology nursing 2017 Dec 21(6) 673-676 -
I paid $300 for DNA-based fitness advice and all I got was junk science
A Chen, The Verge, Nov 17, 2017 -
Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" Strategy.
Mitropoulos Konstantinos et al. Omics : a journal of integrative biology 2017 Nov 21(11) 647-657 -
Improving -Omics-Based Research and Precision Health in Minority Populations: Recommendations for Nurse Scientists.
Taylor Jacquelyn Y et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2017 Nov -
Knowing is Not EnoughAct on Your Family Health History
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G-TRUST (Guideline Trustworthiness, Relevance, and Utility Scoring Tool)
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Genomics handbook provides customized education for physicians
K Palmer, NHGRI, Nov 16, 2017 -
What's Happening to Your DNA Data?: Genetic Testing Services Abound, but Consumers Opting to Use Them Should Be Aware of the Pitfalls.
Grifantini Kristina et al. IEEE pulse 8(6) 10-14 -
Developing a Clinician Friendly Tool to Identify Useful Clinical Practice Guidelines: G-TRUST.
Shaughnessy Allen F et al. Annals of family medicine 2017 Sep 15(5) 413-418 -
Integrating surgery and genetic testing for the modern surgeon.
Caso Raul et al. Annals of translational medicine 2017 Oct 5(20) 399 -
Prioritizing diversity in human genomics research.
Hindorff Lucia A et al. Nature reviews. Genetics 2017 Nov -
Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.
Roy Somak et al. The Journal of molecular diagnostics : JMD 2017 Nov -
Happy Thanksgiving 2017: Take time to collect, share, and act on your family health history, it may save your life!
MJ Khoury, Blog Post, November 20, 2017 -
Mendelian Randomization: How the Natural Assortment of Genes Can Mimic Randomized Clinical Trials
JAMA Podcast, Nov 21, 2017 -
Public health genomics information is now easily accessible online
W Yu and MJ Khoury, CDC Blog Post, November 20, 2017 -
Genomics and Precision Medicine: How Can Emerging Technologies Address Population Health Disparities? Join the Conversation.
W Burke et al, CDC Blog Post, Nov 13, 2017 -
National organizations support outreach efforts for NIHs All of Us Research Program
NIH, Nov 16, 2017 -
Universal Genomics Instructor Handbook and Toolkit
Training Residents in Genomics -
Mendelian Randomization.
Emdin Connor A, et al. JAMA 2017 11 0. (19) 1925-1926
Heart, Lung, Blood and Sleep Diseases
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Personalized medicine and Hispanic health: improving health outcomes and reducing health disparities - a National Heart, Lung, and Blood Institute workshop report.
Avilés-Santa M Larissa et al. BMC proceedings 2017 11(Suppl 11) 11 -
Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results.
Smagarinsky Yana et al. Pilot and feasibility studies 2017 353 -
Association of CETP Gene Variants With Risk for Vascular and Nonvascular Diseases Among Chinese Adults.
Millwood Iona Y et al. JAMA cardiology 2017 Nov -
Recent development of risk-prediction models for incident hypertension: An updated systematic review.
Sun Dongdong et al. PloS one 2017 12(10) e0187240 -
Personalized medicine-a modern approach for the diagnosis and management of hypertension.
Savoia Carmine et al. Clinical science (London, England : 1979) 2017 Nov 131(22) 2671-2685
Newborn Screening
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Newborn Screening for Spinal Muscular Atrophy and Lysosomal Storage Disorders Takes Advantage of Novel Therapies.
Andersson Hans C et al. The Journal of pediatrics 2017 Nov 1909-10 -
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
Burlina Alberto B et al. Journal of inherited metabolic disease 2017 Nov -
Newborn Screening for Sickle Cell Disease in St. Vincent and the Grenadines: Results of a Pilot Newborn Screening Program.
Williams Shelly-Ann et al. Global pediatric health 2017 42333794X17739191
Pharmacogenomics
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Pharmacogenomics: Principles and Relevance to Oncology Nursing
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Dodson Crystal H et al. Clinical journal of oncology nursing 2017 Dec 21(6) 739-745 -
Access to Guideline-Recommended Pharmacogenomic Tests for Cancer Treatments: Experience of Providers and Patients.
Wu Ann Chen et al. Journal of personalized medicine 2017 Nov 7(4) -
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update.
Amstutz Ursula et al. Clinical pharmacology and therapeutics 2017 Nov
Reproductive Health
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Dilemmas in Genetic Counseling for Low-Penetrance Neuro-Susceptibility Loci Detected on Prenatal Chromosomal Microarray Analysis.
Brabbing-Goldstein Dana et al. American journal of obstetrics and gynecology 2017 Nov -
Use of Genetic Testing after Abnormal Screening Ultrasound: A Descriptive Cohort Study.
Ainsworth Alessandra J et al. Gynecologic and obstetric investigation 2017 Nov