Published on 03/30/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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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
Cancer
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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
Chronic Disease
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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
Ethics/Policy/Law
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"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
Practice
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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
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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
Newborn Screening
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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
Pharmacogenomics
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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
News/ Reviews/Comments
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Is privacy the price of precision medicine?
By Jennifer Kulynych, OUP Blog, March 26, 2017