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
- Using Administrative Data to Ascertain True Cases of Muscular Dystrophy: Rare Disease Surveillance.
Smith Michael G et al. JMIR public health and surveillance 2017 Jan 3(1) e2 - A liminal stage after predictive testing for Huntington disease.
Gargiulo Marcela et al. Journal of medical genetics 2017 Jan - Folic Acid Supplementation for the Prevention of Neural Tube Defects: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2017 Jan 317(2) 183-189 - Rare Disease Day 2017
- Plan Ahead: Folic Acid Can Help Prevent Certain Birth Defects
Cancer
- Genomics and the 'Angelina Jolie effect'
Genomics Education UK, January 16, 2017 - Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants and perspectives of patients and healthcare professionals.
Baars J E et al. Journal of community genetics 2017 Jan - Impact of Payer Constraints on Access to Genetic Testing.
Whitworth Pat et al. Journal of oncology practice 2017 Jan 13(1) e47-e56 - A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
Buys Saundra S et al. Cancer 2017 Jan - Factors influencing and modifying the decision to pursue genetic testing for skin cancer risk.
Fogel Alexander L et al. Journal of the American Academy of Dermatology 2017 Jan - Cost-effectiveness of the Decipher Genomic Classifier to Guide Individualized Decisions for Early Radiation Therapy After Prostatectomy for Prostate Cancer.
Lobo Jennifer M et al. Clinical genitourinary cancer 2016 Aug - Cancer Genetic Counselors' Current Practices and Attitudes Related to the Use of Tumor Profiling.
Goedde LeAnne Noelle et al. Journal of genetic counseling 2017 Jan - Precision oncology for acute myeloid leukemia using a knowledge bank approach.
Gerstung Moritz et al. Nature genetics 2017 Jan - Establishing universal screening for Lynch syndrome in the community[PDF 9.03 MB]
Heather Hampel, NCI precision medicine & population health webinar slide presentation, December 14, 2016 - Screening for Colorectal Neoplasia.
Inadomi John M et al. The New England journal of medicine 2017 376(2) 149-156 - Educating Medical Providers About Breast Cancer in Young Women
- Elements of cancer immunity and the cancer–immune set point
DS Chen et al, Nature, January 2017 - Approaches to Blue Ribbon Panel Recommendations: The Case of Lynch Syndrome
NCI workshop, February 22-23, 2017 - Awareness and attitude regarding reproductive options of persons carrying a BRCA mutation and their partners.
Gietel-Habets J J G et al. Human reproduction (Oxford, England) 2017 Jan - Prevention and Early Detection for Hereditary Cancer Syndromes
NCI website with resources, events and funding
Chronic Diseases
- The evolving science of apolipoprotein-L1 and kidney disease.
Chen Teresa K et al. Current opinion in nephrology and hypertension 2016 May 25(3) 217-25 - Apolipoprotein L1 and Kidney Disease in African Americans.
Friedman David J et al. Trends in endocrinology and metabolism: TEM 2016 Apr 27(4) 204-15 - Genetics and genetic testing for glaucoma.
Miller Matthew A et al. Current opinion in ophthalmology 2016 Nov - Genomics in CKD: Is This the Path Forward?
Nadkarni Girish N et al. Advances in chronic kidney disease 2016 Mar 23(2) 120-4 - Don't Let Glaucoma Steal Your Sight!
Family history is a risk factor - Association of Docosahexaenoic Acid Supplementation With Alzheimer Disease Stage in Apolipoprotein E å4 Carriers A Review
HN Yassine al, JAMA Neurology, January 17, 2017 - Reality Check
Genome Magazine, January 2017
Ethics, Policy and Law
- Incidental findings of uncertain significance: To know or not to know--that is not the question.
Hofmann Bjørn et al. BMC medical ethics 2016 Feb 1713 - Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions.
Christenhusz Gabrielle M et al. Medicine, health care, and philosophy 2015 Aug 18(3) 361-70 - Different concepts and models of information for family-relevant genetic findings: comparison and ethical analysis.
Lenk Christian et al. Medicine, health care, and philosophy 2015 Aug 18(3) 393-408 - An International Framework for Data Sharing: Moving Forward with the Global Alliance for Genomics and Health.
Rahimzadeh Vasiliki et al. Biopreservation and biobanking 2016 Jun 14(3) 256-9 - Access Governance for Biobanks: The Case of the BioSHaRE-EU Cohorts.
Kaye Jane et al. Biopreservation and biobanking 2016 Jun 14(3) 201-6
Genomics in Practice
- Precision Medicine Initiative: Implications for Public Health[PDF 1.01 MB]
Bill Riley, NCI precision medicine & population health webinar, slide presentation, October 2016 - The current state of implementation science in genomic medicine: opportunities for improvement.
Roberts Megan C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan - ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Patel Ronak Y et al. Genome medicine 2017 Jan 9(1) 3 - Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing.
Tester David J et al. Cardiology in the young 2017 Jan 27(S1) S19-S24 - Insights from the 2016 Precision Public Health Summit[PDF 292 KB]
Kirsten Bibbins-Domingo, NCI precision medicine and population health webinar slide presentation, October 2016 - Acceptance and Access to Gene Editing: Science and Our Obligations to Mankind
Y Fong et al, Molecular Therapy, Jan 2017 - Five big mysteries about CRISPR’s origins
H Ledford, Nature News, January 12, 2017
Cardiovascular Diseases
- How to develop a clinic for sudden cardiac arrest survivors and families of non-survivors.
Abrams Dominic J et al. Cardiology in the young 2017 Jan 27(S1) S3-S9 - Next Generation Sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation.
Visser Marloes et al. Heart rhythm 2017 Jan - Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.
Morrison Alanna C et al. American journal of human genetics 2017 Jan - Familial Hypercholesterolemia: personalized public health epitomized[PDF 2.08 MB]
Josh Knowles, NCI precision medicine & population health webinar, slide presentation, December 14, 2016
Newborn Screening
- Does newborn screening influence the young cystic fibrosis cohort included in national registries?
De Boeck Kris et al. The European respiratory journal 2017 Jan 49(1) - A curated gene list for reporting results of newborn genomic sequencing.
Ceyhan-Birsoy Ozge et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan - Newborn Sequencing in Genomic Medicine and Public Health.
Berg Jonathan S et al. Pediatrics 2017 Jan - Are you ready to explore baby's genome?
Eureka Alert, January 17, 2017
Reproductive Health
- Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
Himes Patricia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan - The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population.
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan
Pharmacogenomics
- Engaging Hmong adults in genomic and pharmacogenomic research: Toward reducing health disparities in genomic knowledge using a community-based participatory research approach.
Culhane-Pera Kathleen A et al. Journal of community genetics 2017 Jan - "The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems".
Luzum Jasmine A et al. Clinical pharmacology and therapeutics 2017 Jan
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.
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