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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
Walker Caroline E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
- Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study.
Oberguggenberger Anne et al. Journal of psychosomatic research 2016 Oct 8939-45
- Common cancers share familial susceptibility: implications for cancer genetics and counselling.
Yu Hongyao et al. Journal of medical genetics 2016 Sep
- How Are Information Seeking, Scanning, and Processing Related to Beliefs About the Roles of Genetics and Behavior in Cancer Causation?
Waters Erika A et al. Journal of health communication 2016 Sep 1-10
- Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening.
Paluch-Shimon S et al. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2016 Sep 27(suppl 5) v103-v110
- Phenomenology of Schizophrenia and the Representativeness of Modern Diagnostic Criteria.
Kendler Kenneth S et al. JAMA psychiatry 2016 Sep
- Genetic and epigenetic analysis of schizophrenia in blood-a no-brainer?
Jaffe Andrew E et al. Genome medicine 8(1) 96
- Consensus paper of the WFSBP Task Force on Biological Markers: Criteria for biomarkers and endophenotypes of schizophrenia part II: Cognition, neuroimaging and genetics.
Schmitt Andrea et al. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2016 Sep 17(6) 406-28
- Reviewing the epigenetics of schizophrenia.
Cromby John et al. Journal of mental health (Abingdon, England) 2016 Aug 1-9
- Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Wolfe Kate et al. European journal of human genetics : EJHG 2016 Sep
- Is the gut microbiome an important cause of obesity
StatNews, September 22, 2016
Ethics, Policy and Law
- Participants' Role Expectations in Genetics Research and Re-consent: Revising the Theory and Methods of Mental Models Research Relating to Roles.
Condit Celeste M et al. Journal of health communication 2016 Sep 1-9
- Ethical considerations for genetic testing in the context of mandated cardiac screening before athletic participation.
Magavern Emma F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
- A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research.
O'Daniel Julianne M et al. Genome medicine 8(1) 95
Genomics in Practice
- Leveling the Playing Field: Closing the Gap in Public Awareness of Genetics between the Well Served and Underserved.
Kung Johnny et al. The Hastings Center report 2016 Sep 46(5) 17-20
- From "Personalized" to "Precision" Medicine: The Ethical and Social Implications of Rhetorical Reform in Genomic Medicine.
Juengst Eric et al. The Hastings Center report 2016 Sep 46(5) 21-33
- Genetics and genomic medicine in the Philippines.
Padilla Carmencita D et al. Molecular genetics & genomic medicine 2016 Sep 4(5) 494-503
- Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.
Rasmussen Luke V et al. Applied clinical informatics 2016 7(3) 870-82
- Genetic Testing in Dermatology: A Survey Analyzing Obstacles to Appropriate Care.
Shagalov Devorah R et al. Pediatric dermatology 2016 Sep
- All your data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms.
Laestadius Linnea I et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
- Realizing the Full Potential of Precision Medicine in Health and Health Care.
Dzau Victor J et al. JAMA 2016 Sep
- Implementation of a Multicenter Biobanking Collaboration for Next-Generation Sequencing-Based Biomarker Discovery Based on Fresh Frozen Pretreatment Tumor Tissue Biopsies.
Bins Sander et al. The oncologist 2016 Sep
- Barriers to clinical adoption of next generation sequencing: Perspectives of a policy Delphi panel.
Messner Donna A et al. Applied & translational genomics 2016 Sep 1019-24
- A Partnership Approach to Genetic and Genomic Graduate Nursing Curriculum: Report of a New Course's Impact on Student Confidence.
Williams Tamara et al. The Journal of nursing education 2016 Oct 55(10) 574-578
- Precision Medicine: New Paradigms, Risks and Opportunities
Knowledge@Wharton, September 2016
- All About Genetic Counselors
From the National Society for Genetic Counselors
- Personal Stories of Patients with Familial Hypercholesterolemia
The FH Foundation
- The cards I was dealt: my life with familial hypercholesterolemia.
Ames Mackenzie et al. Circulation. Cardiovascular quality and outcomes 2015 Mar 8(2) 218-9
- Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.
Christiansen Sofie Lindgren et al. European journal of human genetics : EJHG 2016 Sep
- Payer decision making for next-generation sequencing-based genetic tests: insights from cell-free DNA prenatal screening.
Dervan Andrew P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
- Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study.
Carere Deanna Alexis et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
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