Published on 04/07/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Accuracy of A Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison with the Breath Test.
Alliende Francisco et al. Journal of pediatric gastroenterology and nutrition 2016 Mar -
A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children.
Beale Sophie et al. Health technology assessment (Winchester, England) 2015 Jun 19(46) 1-90 -
Overview: referrals for genetic evaluation from child psychiatrists.
Press Katharine R et al. Child and adolescent psychiatry and mental health 2016 107
Cancer
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Family history predictors of BRCA1/BRCA2 mutation status among Tunisian breast/ovarian cancer families.
Riahi Aouatef et al. Breast cancer (Tokyo, Japan) 2016 Mar -
Identifying Women at Risk for Hereditary Breast and Ovarian Cancer Syndrome Utilizing Breast Care Nurse Navigation at Mammography and Imaging Centers.
Appel Susan J et al. Journal of National Black Nurses' Association : JNBNA 2015 Dec 26(2) 17-26 -
UK BRCA mutation testing in patients with ovarian cancer.
George Angela et al. British journal of cancer 2015 Dec 113 Suppl 1S17-21 -
Guiding Oncology Patients Through the Maze of Precision Medicine.
Giuse Nunzia Bettinsoli et al. Journal of health communication 21(sup1) 5-17 -
Screening for Cancer Genetic Syndromes With a Simple Risk-Assessment Tool in a Community-Based Open-Access Colonoscopy Practice.
Gunaratnam Naresh T et al. The American journal of gastroenterology 2016 Mar -
IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples.
Hintzsche Jennifer et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar -
Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.
Kaderbhai Coureche Guillaume et al. Oncotarget 2016 Mar -
Economic issues involved in integrating genomic testing into clinical care: the case of genomic testing to guide decision-making about chemotherapy for breast cancer patients.
Marino Patricia et al. Breast cancer research and treatment 2011 Sep 129(2) 401-9 -
BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia.
Mundhofir Farmaditya Ep et al. Asian Pacific journal of cancer prevention : APJCP 2016 17(3) 1539-46 -
My Cancer Genome
My Cancer Genome is a personalized cancer medicine knowledge resource for physicians, patients, caregivers and researchers. -
Family Screening in Familial Papillary Carcinoma: The Early Detection of Thyroid Disease.
Ríos Antonio et al. Annals of surgical oncology 2016 Mar
Chronic Disease
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Confirmation of genetic testing results in haemostasis and thrombosis - survey of current practice in the field.
Jennings I et al. Haemophilia : the official journal of the World Federation of Hemophilia 2016 Apr -
Development of a community-based exercise program for people diagnosed and at-risk for Huntington's disease: A clinical report.
Clark Dalie et al. Physiotherapy theory and practice 2016 Apr 1-8 -
Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations.
Pont-Sunyer Claustre et al. Movement disorders : official journal of the Movement Disorder Society 2015 Jun 30(7) 904-8
Ethics/Policy/Law
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Ethical issues in consumer genome sequencing: Use of consumers' samples and data.
Niemiec Emilia et al. Applied & translational genomics 2016 Mar 823-30 -
'Only a click away - DTC genetics for ancestry, health, love…and more: A view of the business and regulatory landscape'.
Phillips Andelka M et al. Applied & translational genomics 2016 Mar 816-22 -
Federal Government's Proposed Expansion of Regulation of Biospecimen Research Should Be Reconsidered.
Robertson Christopher T et al. Biopreservation and biobanking 2016 Mar
Practice
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Professional Issues of International Genetic Counseling Students Educated in the United States.
Akgumus Gozde et al. Journal of genetic counseling 2016 Mar -
Attitudes towards personal genomics among older Swiss adults: An exploratory study.
Mählmann Laura et al. Applied & translational genomics 2016 Mar 89-15 -
Web-Based Assessment of Genomic Knowledge Among Practicing Nurses: A Validation Study.
McCabe Margaret et al. Journal of continuing education in nursing 2016 Apr 47(4) 189-96
Heart, Lung, Blood and Sleep Diseases
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Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia.
Besseling Joost et al. European heart journal 2016 Apr
Newborn Screening
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Prenatal Education of Parents About Newborn Screening and Residual Dried Blood Spots: A Randomized Clinical Trial.
Botkin Jeffrey R et al. JAMA pediatrics 2016 Apr -
Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study.
Carlos Aline Menezes et al. Sa~o Paulo medical journal = Revista paulista de medicina 133(5) 439-44 -
Newborn screening for sickle cell diseases in the United States: A review of data spanning 2 decades.
Therrell Bradford L et al. Seminars in perinatology 2015 Apr 39(3) 238-51
Pharmacogenomics
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Optimizing clopidogrel dose response: a new clinical algorithm comprising CYP2C19 pharmacogenetics and drug interactions.
Saab Yolande B et al. Therapeutics and clinical risk management 2015 111421-7 -
Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Hoffman James M et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar -
Proposal for a pharmacogenetics certificate program for pharmacists.
Haga Susanne B et al. Pharmacogenomics 2016 Mar -
Impressions of pharmacogenomic testing among Certified Registered Nurse Anesthetists: a mixed-method study.
Riddle Dru et al. Pharmacogenomics 2016 Mar
Reproductive Health
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Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy.
Kohn Taylor P et al. Journal of assisted reproduction and genetics 2016 Mar
News/ Reviews/Comments
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Who Should Consider Genetic Counseling and Testing for Breast and Ovarian Cancer? : Guidelines Have Expanded,
My Gene Counsel, April 5, 2016 -
Cause of rare immune disease identified,
by Mitch Leslie, Science Magazine, March 30, 2016 -
Surprising Findings in Genetic Analysis of Familial Hypercholesterolemia Patients,
HPCLive, April 3, 2016 -
Mothers Smoking During Pregnancy Affects Babys DNA,
by Lisa Rapaport, Scientific American, April 1, 2016 -
Not So Rare, FH Is Truly Risky Lipid Disorder,
by Larry Husten, Cardio Brief, April 3, 2016 -
NCCN Adds New Gene Mutations to Consider in Women's Cancers,
by Fran Lowry, Medscape, April 4, 2016 -
How genetic testing can be used against you and how Bill S-201 could change that,
the Globe and Mail, April 5, 2016 -
Possible cure for 'bubble boy disease' nearing EU approval,
by Stephen Feller, UPI, April 1, 2016