Published on 03/30/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
Genomic decision support needs in pediatric primary care.
Pennington Jeffrey W et al. Journal of the American Medical Informatics Association : JAMIA 2017 Feb
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Vissers Lisenka E L M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Mar
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Taylor Rachel L et al. Ophthalmology 2017 Mar
Diagnostic Tests for Evaluation of Stillbirth: Results From the Stillbirth Collaborative Research Network.
Page Jessica M et al. Obstetrics and gynecology 2017 Apr 129(4) 699-706
Facial recognition software helps diagnose rare genetic disease- Soon, physicians may be able to diagnose by snapping a photo
J Mjoseth, NHGRI, March 2017
Integrating Genomics Into Clinical Pediatric Oncology Using the Molecular Tumor Board at the Memorial Sloan Kettering Cancer Center.
Ortiz Michael V et al. Pediatric blood & cancer 2016 63(8) 1368-74
Evaluation of clinical implementation of prospective DPYD genotyping in 5-fluorouracil- or capecitabine-treated patients.
Lunenburg Carin Atc et al. Pharmacogenomics 2016 17(7) 721-9
A Psychological Perspective on Factors Predicting Prophylactic Salpingo-Oophorectomy in a Sample of Italian Women from the General Population. Results from a Hypothetical Study in the Context of BRCA Mutations.
Gavaruzzi Teresa et al. Journal of genetic counseling 2017 Mar
Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.
Djordjevic Bojana et al. Surgical pathology clinics 2016 Jun 9(2) 289-99
Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?
Mitchell Gillian et al. Surgical pathology clinics 2016 Jun 9(2) 301-6
The Impact of Mental Illness on Uptake of Genetic Counseling for Hereditary Breast Cancer and Ovarian Cancer in a Multiethnic Cohort of Breast Cancer Patients.
Ackerman Marra G et al. The breast journal 2017 Mar
Facilitating informed decisions about breast cancer screening: development and evaluation of a web-based decision aid for women in their 40s.
Elkin Elena B et al. BMC medical informatics and decision making 2017 Mar 17(1) 29
Towards a Global Cancer Knowledge Network: Dissecting the current international cancer genomic sequencing landscape.
Vis D J et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Feb
Impact of subsidies on cancer genetic testing uptake in Singapore.
Li Shao-Tzu et al. Journal of medical genetics 2017 Apr 54(4) 254-259
Clinical utility of a self-administered questionnaire for assessment of hereditary gynecologic cancer.
Masuda Kenta et al. Japanese journal of clinical oncology 2017 Dec 1-6
Use of BRCA Mutation Test in the U.S., 2004-2014.
Guo Fangjian et al. American journal of preventive medicine 2017 Mar
Cancer Is Partly Caused By Bad Luck, Study Finds
NPR Health, March 23, 2017
Most cancer mutations arise from bad luck, but many cases still preventable, researchers say
S Begley, StatNews, March 23, 2017
Preliminary Screening Results of Fabry Disease in Kidney Transplantation Patients: A Single-Center Study.
Yilmaz M et al. Transplantation proceedings 2017 Apr 49(3) 420-424
Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports.
Sweet Kevin et al. Journal of genetic counseling 2017 Mar
"Still Rather Hazy at Present": Citizens' and Physicians' Views on Returning Results from Biobank Research Using Broad Consent.
Barazzetti Gaia et al. Genetic testing and molecular biomarkers 2017 Mar 21(3) 159-165
Beyond Genomic Association: Ethical Implications of Elucidating Disease Mechanisms and Genotype-Influenced Treatment Response.
Viaña John Noel M et al. The American journal of bioethics : AJOB 2017 Apr 17(4) 24-26
A Valuable New Direction in Ethical Analysis of Psychiatric Genetics.
Hyman Steven E et al. The American journal of bioethics : AJOB 2017 Apr 17(4) 13-15
Psychiatric Genomics and Mental Health Treatment: Setting the Ethical Agenda.
Kong Camillia et al. The American journal of bioethics : AJOB 2017 Apr 17(4) 3-12
Psychiatric Genomics: Ethical Implications for Public Health in Lower- and Middle-Income Countries.
de Vries Jantina et al. The American journal of bioethics : AJOB 2017 Apr 17(4) 17-19
Committee Opinion No. 693: Counseling About Genetic Testing and Communication of Genetic Test Results.
et al. Obstetrics and gynecology 2017 Apr 129(4) e96-e101
Organizational Benchmarks for Test Utilization Performance: An Example Based on Positivity Rates for Genetic Tests.
Rudolf Joseph et al. American journal of clinical pathology 2017 Mar
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Manolio Teri A et al. Cell 2017 Mar 169(1) 6-12
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.
Ormondroyd Elizabeth et al. European journal of human genetics : EJHG 2017 Mar
Heart, Lung, Blood and Sleep Diseases
Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans.
Nadkarni Girish N et al. Journal of the American College of Cardiology 2017 Mar 69(12) 1564-1574
Utilizing nutritional genomics to tailor diets for the prevention of cardiovascular disease: a guide for upcoming studies and implementations.
Corella Dolores et al. Expert review of molecular diagnostics 2017 Mar
Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration.
Bellgard Matthew I et al. Journal of atherosclerosis and thrombosis 2017 Mar
A Review of the Genetics of Hypertension with a Focus on Gene-Environment Interactions.
Waken R J et al. Current hypertension reports 2017 Mar 19(3) 23
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
Alfadhel Majid et al. Journal of paediatrics and child health 2017 Mar
Whole-exome Sequencing for Diagnosis of Turner Syndrome: Towards Next Generation Sequencing and Newborn Screening.
Murdock David R et al. The Journal of clinical endocrinology and metabolism 2017 Jan
Design and evaluation of a pharmacogenomics information resource for pharmacists.
Romagnoli Katrina M et al. Journal of the American Medical Informatics Association : JAMIA 2017 Feb
Is privacy the price of precision medicine?
By Jennifer Kulynych, OUP Blog, March 26, 2017