Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Mar 30, 2017

About the Genomics & Health Impact Weekly Scan

This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.

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Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Newborn Screening
• Pharmacogenomics
• News/ Reviews/Comments

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

Cancer

• 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
• Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.  
   Jennings Lawrence J et al. The Journal of molecular diagnostics : JMD 2017 Mar
• 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 Diseases

• 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 and Law

• "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

Genomics in Practice

• An Evidence Framework for Genetic Testing  
   NASEM report, March 27, 2017
• 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

Cardiovascular 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

Newborn Screening

• 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

• 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/Commentaries

• Is privacy the price of precision medicine?  
   By Jennifer Kulynych, OUP Blog, March 26, 2017

Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB