Published on 08/25/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective.
Hens Kristien et al. European journal of medical genetics 2016 Aug -
Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.
Douzgou Sofia et al. Public health genomics 2016 19(1) 19-24
Cancer
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Application of the 2013 ASCO/CAP guideline and the SISH technique for HER2 testing of breast cancer selects more patients for anti-HER2 treatment.
Polónia António et al. Virchows Archiv : an international journal of pathology 2016 Apr 468(4) 417-23 -
The impact of the 21-gene assay on adjuvant treatment decisions in oestrogen receptor-positive early breast cancer: a prospective study.
Kuchel Anna et al. British journal of cancer 2016 Mar 114(7) 731-6 -
Initiation of a formalized precision medicine program in gynecologic oncology.
Gunderson Camille C et al. Gynecologic oncology 2016 Apr 141(1) 24-8 -
The impact of receiving predictive genetic information about Lynch syndrome on individual colonoscopy and smoking behaviours.
Kim Joanne Soo-Min et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 Aug -
Changing patterns of referrals and outcomes of genetic participation in gynaecological-oncology multidisciplinary care.
Pokharel Hanoon P et al. The Australian & New Zealand journal of obstetrics & gynaecology 2016 Aug -
Clinical utility and treatment outcome of comprehensive genomic profiling in high grade glioma patients.
Blumenthal Deborah T et al. Journal of neuro-oncology 2016 Aug -
Building a Cancer Genetics and Prevention Program.
Llor Xavier et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2016 Aug -
Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?
Agranat Sivan et al. The breast journal 2016 Aug -
Lynch syndrome in upper tract urothelial carcinoma: significance, screening, and surveillance.
Pradere Benjamin et al. Current opinion in urology 2016 Aug -
Colonoscopy uptake for high-risk individuals with a family history of colorectal neoplasia: A multicenter, randomized trial of tailored counseling versus standard information.
Ingrand Isabelle et al. Medicine 2016 Aug 95(33) e4303 -
Psychosocial Adjustment and Perceived Risk Among Adolescent Girls From Families With BRCA1/2 or Breast Cancer History.
Bradbury Angela R et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Aug -
The Three-Generation Pedigree: A Critical Tool in Cancer Genetics Care.
Mahon Suzanne M et al. Oncology nursing forum 2016 Sep 43(5) 655-60 -
Pooled analysis of prospective European studies assessing the impact of using the 21-gene Recurrence Score assay on clinical decision making in women with oestrogen receptor-positive, human epidermal growth factor receptor 2-negative early-stage breast cancer.
Albanell Joan et al. European journal of cancer (Oxford, England : 1990) 2016 Aug 66104-113 -
Familial colorectal cancer: Patient assessment, surveillance and surgical management.
Kennelly R P et al. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2016 Jul -
The Role of Genomic Profiling in Advanced Breast Cancer: The Two Faces of Janus.
Eralp Yesim et al. Translational oncogenomics 2016 8(Suppl 1) 1-7 -
Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial.
Pasick Rena J et al. American journal of public health 2016 Aug e1-e7 -
Increasing Precision in Adjuvant Therapy for Breast Cancer.
Hudis Clifford A, et al. The New England journal of medicine 2016 8 0. (8) 790-1 -
All women with ovarian cancer should be offered genetic testing so why arent they?
E Smith, Science Blogs, August 17, 2016 -
JAX-Clinical Knowledgebase (CKB)
CKB tool for interpreting complex cancer genomic profiles for practice and research -
BRCA 1/2-negative patients who receive counseling after genetic testing have lower anxiety.
Printz Carrie et al. Cancer 2016 Apr 122(8) 1149 -
Gene Tests Identify Breast Cancer Patients Who Can Skip Chemotherapy, Study Says
D Grady, New York Times, August 25, 2016
Chronic Disease
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Concerns about Genetic Testing for Schizophrenia among Young Adults at Clinical High Risk for Psychosis.
Lawrence Ryan E et al. AJOB empirical bioethics 7(3) 193-198 -
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.
Roggenbuck Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug -
Navigating genetic diagnostics in patients with hearing loss.
Sloan-Heggen Christina M et al. Current opinion in pediatrics 2016 Aug -
Genome-wide association studies in migraine: current state and route to follow.
Nyholt Dale R et al. Current opinion in neurology 2016 Jun 29(3) 302-8 -
ALS: A bucket of genes, environment, metabolism and unknown ingredients.
Zufiría Mónica et al. Progress in neurobiology 2016 Jul 142104-29 -
Cardiovascular risk assessment in patients with rheumatoid arthritis: The relevance of clinical, genetic and serological markers.
López-Mejías Raquel et al. Autoimmunity reviews 2016 Aug -
Population-based approaches to genetics of migraine.
Chasman Daniel I et al. Cephalalgia : an international journal of headache 2016 Jun 36(7) 692-703 -
The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine.
Pellacani Simona et al. Frontiers in cellular neuroscience 2016 10156 -
Migraine genetics: from genome-wide association studies to translational insights.
Gormley Padhraig, et al. Genome medicine 2016 0 0. (1) 86
Practice
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Medical student preparedness for an era of personalized medicine: findings from one US medical school.
Eden Caroline et al. Personalized medicine 2016 Mar 13(2) 129-141 -
Primary care professionals' perceptions of using a short family history questionnaire.
Ahmed Shenaz et al. Family practice 2016 Aug -
Contextualising our genomes - finding patients like you
L Luheshi, PHG Foundation, August 22, 2016 -
Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.
Olwi Duaa et al. Public health genomics 2016 Aug -
Effectiveness of Team-Based Learning in teaching Medical Genetics to Medical Undergraduates.
Ismail Noor Akmal Shareela et al. The Malaysian journal of medical sciences : MJMS 2016 Mar 23(2) 73-7 -
Genetic Insights About Health Risks Limited By Lack Of Diversity, Study Finds
ZY Tan, Kaiser Permanente News, April 17, 2016 -
Precision Medicine and Population Health: Dealing with the Elephant in the Room
Khoury MJ and Galea S, CDC Blog Post, August 18, 2016 -
Can Precision Medicine Benefit Public Health? Maybe
Lisa Chedekel, Boston University School of Public Health, August 22, 2016 -
A Commentary on Khoury & Galea Will Precision Medicine Improve Population Health
R Zimmern, PHG Foundation, August 22, 2016 -
Telomere Length: The Intersection of Sociology, Molecular Biology, and Human Disease.
Joyce Brian T, et al. EBioMedicine 2016 9 0. 27-28
Heart, Lung, Blood and Sleep Diseases
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Imprecise Medicine: Genetic Tests Lead To Misdiagnosis
L Husten, August 17, 2016 -
Cautionary Tale Of Genetic Testing: You May Drop Dead! Oops, Never Mind
C Goldberg, WBUR, AUgust 18, 2016
Newborn Screening
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Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.
Peng Qi et al. Genetic testing and molecular biomarkers 2016 Aug
Pharmacogenomics
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Real-world cost-effectiveness of pharmacogenetic screening for epilepsy treatment.
Chen Zhibin et al. Neurology 2016 Mar 86(12) 1086-94 -
A review of consent practices and perspectives for pharmacogenetic testing.
Haga Susanne B et al. Pharmacogenomics 2016 Aug -
Transitioning Pharmacogenomics into the Clinical Setting: Training Future Pharmacists.
Frick Amber et al. Frontiers in pharmacology 2016 7241 -
Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.
Sieberts Solveig K, et al. Nature communications 2016 0 0. 12460
Reproductive Health
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Survey of attitudes of Chinese perinatologists and obstetricians toward non-invasive prenatal genetic testing.
Zhai Jinguo et al. The journal of obstetrics and gynaecology research 2016 Aug -
Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.
Bornstein Eran et al. American journal of perinatology 2016 Aug -
Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives.
Quinlan-Jones Elizabeth et al. Prenatal diagnosis 2016 Aug -
Genetics of Male Infertility.
Neto Filipe Tenorio Lira et al. Current urology reports 2016 Oct 17(10) 70 -
The First Tinkering with Human Heredity May Happen in the Infertility Clinic
SS Hall, Scientific American, September 2016 -
Benefits and Limitations of Prenatal Screening for Prader-Willi Syndrome.
Butler Merlin G et al. Prenatal diagnosis 2016 Aug -
Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics.
Hart Roger J et al. Physiological reviews 2016 Jul 96(3) 873-909
News/ Reviews/Comments
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Go forth and replicate!
Nature 2016 0 0. (7617) 373.Nature 2016 0 0. (7617) 373 -
Gene mapping may not be for everyone,
by Karen Weintraub, USA Today, August 22, 2016