Published on 03/16/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Survival Comparison of Patients With Cystic Fibrosis in Canada and the United States: A Population-Based Cohort Study.
Stephenson Anne L, et al. Annals of internal medicine 2017 4 0. (8) 537-546 -
Rounding up sickle cells with gene therapy.
Byrne Leah, et al. Science translational medicine 2017 0 0. (381) -
Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel.
Wirrell Elaine C et al. Pediatric neurology 2017 Mar 6818-34.e3 -
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.
Robert Cyrille et al. International journal of molecular sciences 2017 Mar 18(3) -
Von Willebrand's Disease.
Leebeek Frank W G et al. The New England journal of medicine 2016 Nov 375(21) 2067-2080 -
The genetic basis of cerebral palsy.
Fahey Michael C et al. Developmental medicine and child neurology 2017 Jan -
Molecular diagnosis of von Willebrand disease.
Baronciani L et al. Haemophilia : the official journal of the World Federation of Hemophilia 2017 Feb -
Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.
Haug Shelly et al. JAMA pediatrics 2017 Feb -
Emergency department utilization by haemophilia patients in United States.
Zakieh A et al. Haemophilia : the official journal of the World Federation of Hemophilia 2017 Feb -
'StunningÂ’ gap: Canadians with cystic fibrosis outlive Americans by a decade
E Boodman, Stat News, March 14, 2017 -
Down syndrome and the complexity of genome dosage imbalance.
Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar 18(3) 147-163 -
Autism genetics: opportunities and challenges for clinical translation.
Vorstman Jacob A S et al. Nature reviews. Genetics 2017 Mar -
Gene delivery to the lungs: pulmonary gene therapy for cystic fibrosis.
Villate-Beitia Ilia et al. Drug development and industrial pharmacy 2017 Mar 1-11 -
Recent advances in hemophilia B therapy.
Horava Sarena D et al. Drug delivery and translational research 2017 Feb
Cancer
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Genomic tests to guide prostate cancer management following diagnosis.
Colicchia Michele et al. Expert review of molecular diagnostics 2017 Mar 1-11 -
Family history of colorectal cancer and its impact on survival in patients with resected stage III colon cancer: results from NCCTG Trial N0147 (Alliance).
Jansson-Knodell Claire L et al. Journal of gastrointestinal oncology 2017 Feb 8(1) 1-11 -
Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer.
Cicero G et al. Journal of genetic counseling 2017 Mar -
New blood test could help detect and locate cancer early on
Science Magazine, March 6, 2017 -
Expert Explains the Importance of Genetic Testing for Patients With Ovarian Cancer
K Kosko, Targeted Oncology, March 14, 2017 -
Lynch syndrome – highlighting recent and upcoming activities
M Clyne, Research to Reality Blog Post, March 2017 -
A comparison of genetic risk score with family history for estimating prostate cancer risk.
Helfand Brian T et al. Asian journal of andrology 18(4) 515-9 -
Preparing young people for future decision-making about cancer risk in families affected or at risk from hereditary breast cancer: A qualitative interview study.
Rowland Emma et al. European journal of oncology nursing : the official journal of European Oncology Nursing Society 2016 Dec 259-15 -
Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers.
Dagan Efrat et al. Journal of genetic counseling 2017 Mar
Chronic Disease
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A Precision Medicine Initiative for Alzheimer's disease: the road ahead to biomarker-guided integrative disease modeling.
Hampel H et al. Climacteric : the journal of the International Menopause Society 2017 Apr 20(2) 107-118 -
Epigenetics and Signaling Pathways in Glaucoma.
Gauthier Angela C et al. BioMed research international 2017 20175712341 -
Predicting Polygenic Obesity Using Genetic Information.
Loos Ruth J F et al. Cell metabolism 2017 Mar 25(3) 535-543
Ethics/Policy/Law
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ASHG applauds passage of Canadian Genetic Non-Discrimination Act
Science Magazine, March 9, 2017 -
Equity in Precision Medicine: Is It Within Our Reach?
Armstrong Katrina et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Mar 15(3) 421-423 -
Ethical Issues Surrounding Personalized Medicine: A Literature Review.
Salari Pooneh et al. Acta medica Iranica 2017 Mar 55(3) 209-217 -
Research Ethics 2.0: New Perspectives on Norms, Values, and Integrity in Genomic Research in Times of Even Scarcer Resources.
Brall Caroline et al. Public health genomics 2017 Mar
Practice
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Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study.
Costal Tirado A et al. Journal of genetic counseling 2017 Mar -
Adding Protective Genetic Variants to Clinical Reporting of Genomic Screening Results: Restoring Balance.
Schwartz Marci L B et al. JAMA 2017 Mar -
Public health and precision medicine share a goal.
Vaithinathan Asokan G et al. Journal of evidence-based medicine 2016 Dec -
Genetic counselors, genetic interpreters, and conflicting interests
K Stoll et al, Harvard Law, March 2017 -
Genome editing in medicine - where are we?
L Blackburn, PHG Foundation, March 14, 2017 -
Informed Consent: The Case of “-Omics” Literacy
Hammer Marilyn et al. Oncology nursing forum 2017 44(1) 28-30 -
Genomic Literacy, Education, and Engagement (GLEE) Initiative [PDF 415 KB]
NHGRI, March 2017 -
Genomics education for medical professionals - the current UK landscape.
Slade Ingrid et al. Clinical medicine (London, England) 2016 Aug 16(4) 347-52 -
European registration process for Clinical Laboratory Geneticists in genetic healthcare.
Liehr Thomas et al. European journal of human genetics : EJHG 2017 Mar -
Health behaviors not significantly changed by direct-to-consumer genetic testing.
Barton Mary Kay et al. CA: a cancer journal for clinicians 2017 Mar -
Genetic Evaluation, Familial Screening and Exercise.
Stein Ricardo et al. Arquivos brasileiros de cardiologia 2017 Mar 0
Heart, Lung, Blood and Sleep Diseases
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Genetic Risk Could Guide Heart Disease Prevention
D Macnamara, Medscape, March 10, 2017 -
Is Coronary Atherosclerosis One Disease or Many? Setting Realistic Expectations for Precision Medicine [PDF 281.78 KB]
AV Khera, et al. Circulation, March 2017 -
Genetics of coronary artery disease: discovery, biology and clinical translation.
Khera Amit V et al. Nature reviews. Genetics 2017 Mar -
New Collaboration Improves Access to Treatment for Familial Hypercholesteremia (FH) Patients Most at Risk for Early Heart Attacks and Death
PRNewswire, March 15, 2017
Newborn Screening
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Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.
Hayeems Robin Z et al. The Journal of pediatrics 2017 Mar -
Newborn Screening in the Age of Genomics: Innovation Versus Evidence
CJ Saunders et al. AACC News, March 2017 -
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48
Pharmacogenomics
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Genetic Testing for Psychopharmacology: Is It Ready for Prime Time?
Leahy Laura G et al. Journal of psychosocial nursing and mental health services 2017 Mar 55(3) 19-23 -
Development of a postgraduate year 2 pharmacy residency in clinical pharmacogenetics.
Haidar Cyrine E et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2017 Mar 74(6) 409-415
Reproductive Health
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At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
Morales Ana et al. Journal of genetic counseling 2017 Mar -
Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review.
Chen Chih-Ping et al. Taiwanese journal of obstetrics & gynecology 2016 Oct 55(5) 712-717 -
Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations.
Zhang Wenke et al. Journal of assisted reproduction and genetics 2016 Jul 33(7) 899-906