Published on 03/09/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Gene Therapy in a Patient with Sickle Cell Disease
Ramya Ramaswami, Resident 360 NEJM Blog, March 2017 -
Sickle Cell Disease - A History of Progress and Peril.
Wailoo Keith et al. The New England journal of medicine 2017 376(9) 805-807 -
Mitochondrial DNA maintenance defects.
El-Hattab Ayman W et al. Biochimica et biophysica acta 2017 Feb -
Clinical, Laboratory and Molecular Findings of 63 Patients with Severe Combined Immunodeficiency: A Decade´s Experience.
Fazlollahi M R et al. Journal of investigational allergology & clinical immunology 2017 Mar 0 -
Teenager's sickle cell reversed with world-first therapy
J Gallagher, BBC News, March 2, 2017
Cancer
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Screening for Lynch Syndrome,
6abc, March 2, 2017 -
BRCA And Me: The Impact Of Screening High-Risk Women Against Ovarian Cancer
C Presho, Huffington Post, March 2017 -
Few people actually benefit from breakthrough cancer immunotherapy
Stat News, March 2017 -
Colorectal Cancer Incidence Patterns in the United States, 1974-2013.
Siegel Rebecca L, et al. Journal of the National Cancer Institute 2017 0 0. (8) -
Advanced Cancer Treatments Far From Big-Name Hospitals
Precision medicine should become more widely available, and fewer patients will need to travel far for care
E Kincaid, WSJ, March 6, 2017 -
Realizing the Potential of Cancer Prevention - The Role of Implementation Science.
Emmons Karen M, et al. The New England journal of medicine 2017 0 0. (10) 986-990 -
Colorectal cancer rates rising sharply among Gen X and millennials,
by Laurie McGinley, Washington Post, February 28, 2017 -
Prediction of years of life after diagnosis of breast cancer using omics and omic-by-treatment interactions.
González-Reymúndez Agustín, et al. European journal of human genetics : EJHG 2017 0 0. (5) 538-544 -
Clinical use of biomarkers in breast cancer: Updated guidelines from the European Group on Tumor Markers (EGTM).
Duffy M J et al. European journal of cancer (Oxford, England : 1990) 2017 Feb 75284-298 -
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Leroy Bernard et al. Cancer research 2017 Mar -
Using lessons from breast, cervical, and colorectal cancer screening to inform the development of lung cancer screening programs.
Armstrong Katrina et al. Cancer 2016 122(9) 1338-42 -
Noninvasive strategies for lung cancer testing
NIH Research Matters, March 7, 2017
Chronic Disease
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Head injuries can alter hundreds of genes and lead to serious brain diseases
Science Magazine, March 6, 2017 -
Schizophrenia and the dynamic genome.
Sullivan Patrick F et al. Genome medicine 2017 Mar 9(1) 22 -
Bioactive Nutrients and Nutrigenomics in Age-Related Diseases.
Rescigno Tania et al. Molecules (Basel, Switzerland) 2017 Jan 22(1) -
Uncovering precision phenotype-biomarker associations in traumatic brain injury using topological data analysis.
Nielson Jessica L et al. PloS one 2017 12(3) e0169490 -
Genetics and Other Risk Factors for Past Concussions in Active-Duty Soldiers.
Dretsch Michael N et al. Journal of neurotrauma 2017 Feb 34(4) 869-875 -
Update on the genetic architecture of rheumatoid arthritis.
Kim Kwangwoo et al. Nature reviews. Rheumatology 2017 Jan 13(1) 13-24 -
Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions.
Mirkovic Bojan et al. Frontiers in psychiatry 2016 7158 -
Nutrigenomics of extra-virgin olive oil: A review.
Piroddi Marta et al. BioFactors (Oxford, England) 2017 Jan 43(1) 17-41 -
Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury.
Hercher Laura S et al. Journal of genetic counseling 2016 Dec 25(6) 1267-1275 -
Systematic Review of Genetic Risk Factors for Sustaining a Mild Traumatic Brain Injury.
Panenka William J et al. Journal of neurotrauma 2017 Feb
Ethics/Policy/Law
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Ethical issues in genetic counseling.
Than Nandor Gabor et al. Best practice & research. Clinical obstetrics & gynaecology 2017 Jan -
Informed Consent.
Grady Christine, et al. The New England journal of medicine 2017 0 0. (9) 856-867 -
Revamping the US Federal Common Rule: Modernizing Human Participant Research Regulations.
Hodge James G et al. JAMA 2017 Feb
Practice
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Development and Psychometric Testing of the Criterion-Referenced Measurement Tool for Genetics.
Santelli Jeanine Seguin et al. Journal of nursing measurement 2016 24(1) 69-91 -
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge Dustin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Mar -
Expanding RN Scope of Knowledge-Genetics/Genomics: The New Frontier.
Rogers Margaret A et al. Journal for nurses in professional development 33(2) 56-63 -
Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment.
Roy Somak et al. Archives of pathology & laboratory medicine 2016 Sep 140(9) 958-75 -
The genetics and pathology of mitochondrial disease.
Alston Charlotte L et al. The Journal of pathology 2017 Jan 241(2) 236-250 -
Detection of Mutations in Mitochondrial DNA by Droplet Digital PCR.
Sofronova J K et al. Biochemistry. Biokhimiia 2016 Oct 81(10) 1031-1037 -
Presentation and Diagnostic Evaluation of Mitochondrial Disease.
Dimmock David P et al. Pediatric clinics of North America 2017 Feb 64(1) 161-171 -
Standards for Reporting Implementation Studies (StaRI) Statement.
Pinnock Hilary et al. BMJ (Clinical research ed.) 2017 Mar 356i6795 -
Mitochondrial disease and endocrine dysfunction.
Chow Jasmine et al. Nature reviews. Endocrinology 2017 Feb 13(2) 92-104 -
A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling.
Athens Barbara A et al. Journal of genetic counseling 2017 Mar -
Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark.
Diness Birgitte Rode et al. Journal of genetic counseling 2017 Mar -
Decision Making on Medical Innovations in a Changing Health Care Environment: Insights from Accountable Care Organizations and Payers on Personalized Medicine and Other Technologies.
Trosman Julia R et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2017 Jan 20(1) 40-46
Heart, Lung, Blood and Sleep Diseases
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Keys to Your Genetic Heart Health
AC Sturm, NSGC Blog Post, March 2017
Pharmacogenomics
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Pharmacogenetics of anti-cancer drugs: State of the art and implementation - recommendations of the French National Network of Pharmacogenetics.
Quaranta Sylvie et al. Therapie 2017 Jan -
Assessing feasibility of delivering pharmacogenetic testing in a community pharmacy setting.
Haga Susanne B et al. Pharmacogenomics 2017 Mar 18(4) 327-335 -
Assessment of patient perceptions of genomic testing to inform pharmacogenomic implementation.
Lee Yee Ming et al. Pharmacogenetics and genomics 2017 Mar
Reproductive Health
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Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis.
Cheng Y Ky et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 Mar -
Non-invasive Prenatal Testing: Exploring ethical issues in biology and medicine
Nuffeld Bioethics Report, March 2017 -
Preferences regarding contemporary prenatal genetic tests among women desiring testing: implications for optimal testing strategies.
Kuppermann Miriam et al. Prenatal diagnosis 2016 May 36(5) 469-75 -
Pre-implantation genetic screening among women experiencing recurrent failure of in vitro fertilization.
Hatirnaz Safak et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2017 Mar -
The use of noninvasive prenatal testing in obstetric care: educational resources, practice patterns, and barriers reported by a national sample of clinicians.
Farrell Ruth M et al. Prenatal diagnosis 2016 Jun 36(6) 499-506 -
The dos and donts of non-invasive prenatal testing
P Brice, PHG Foundation, March 7, 2017 -
Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.
Tsai Ginger J et al. Journal of genetic counseling 2017 Mar