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
- Emerging Field of Cardiomics: High-Throughput Investigations into Transcriptional Regulation of Cardiovascular Development and Disease.
Slagle Christopher E et al. Trends in genetics : TIG 2016 Oct - If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism.
Yeh Erika et al. Molecular and cellular probes 2016 Oct - Genetics of bicuspid aortic valve aortopathy.
Andreassi Maria G et al. Current opinion in cardiology 2016 Nov 31(6) 585-592 - Autism study finds early intervention has lasting effects
H Ledford, Nature News, October 25, 2016 - Pediatric Sickle Cell Disease - Past Successes and Future Challenges.
Meier Emily Riehm et al. Pediatric research 2016 Oct - Autism genetics - an overview.
Yin Jiani et al. Prenatal diagnosis 2016 Oct - Feasibility of a Community-Based Sickle Cell Trait Testing and Counseling Program.
Housten Ashley J et al. Journal of health disparities research and practice 2016 9(3) - Gene therapy shows promise for treating Niemann-Pick disease type C1
NIH, October 26, 2016 - Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
CH Hensel et al, BioXRIV, October 26, 2016 - Genetics of Sickle Cell-Associated Cardiovascular Disease: An Expert Review with Lessons Learned in Africa.
Geard Amy et al. Omics : a journal of integrative biology 2016 Oct 20(10) 581-592 - The need for a next-generation public health response to rare diseases
R Valdez et al, Genetics in Medicine, October 27, 2016
Cancer
- Chemotherapy decisions and patient experience with the recurrence score assay for early-stage breast cancer.
Friese Christopher R et al. Cancer 2016 Oct - Genetic Tests That Make a Difference After a Breast Cancer Diagnosis,
by Marisa C. Weiss, M.D., U.S, News, October 24, 2016 - New Study Highlights the Benefits of BRCA Testing for All People of Ashkenazi Jewish Descent
Current Screening Standards May Miss BRCA Carriers with Significant Cancer Risk, Newswise, October 20, 2016 - NICE recommends all bowel cancer patients to be tested for Lynch Syndrome
Bowel Cancer UK, October 22, 2016 - Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.
Grandval P et al. Clinical genetics 2016 Feb 89(2) 267-8 - Clinical Utility of Circulating Tumor DNA for Molecular Assessment and Precision Medicine in Pancreatic Cancer.
Takai Erina et al. Advances in experimental medicine and biology 2016 92413-17 - Prevention and Screening in Hereditary Breast and Ovarian Cancer.
Zeichner Simon B et al. Oncology (Williston Park, N.Y.) 2016 Oct 30(10) - A Relational Approach to Genetic Counseling for Hereditary Breast and Ovarian Cancer.
Forbes Shepherd Rowan et al. Journal of genetic counseling 2016 Oct - Is ovarian cancer a targetable disease? A systematic review and meta-analysis and genomic data investigation.
Staropoli Nicoletta et al. Oncotarget 2016 Oct - Novel BRCA1 and BRCA2 Tumour Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Weren Robbert D A et al. Human mutation 2016 Oct - Communicating BRCA research results to patients enrolled in international clinical trials: lessons learnt from the AGO-OVAR 16 study.
Pulford David J et al. BMC medical ethics 2016 Oct 17(1) 63 - Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.
Bertier Gabrielle et al. Genome medicine 2016 Oct 8(1) 108 - BRACAVENIR - impact of a psychoeducational intervention on expectations and coping in young women (aged 18-30 years) exposed to a high familial breast/ovarian cancer risk: study protocol for a randomized controlled trial.
Kwiatkowski Fabrice et al. Trials 2016 Oct 17(1) 509 - Barriers to genetic testing in newly diagnosed breast cancer patients: do surgeons limit testing?
Hafertepen Laura et al. American journal of surgery 2016 Sep - Chemotherapy decisions and patient experience with the recurrence score assay for early-stage breast cancer.
Friese Christopher R et al. Cancer 2016 Oct - The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
Eliade Marie et al. Oncotarget 2016 Oct - NICE recommends wider use of tests to detect cancer-causing genetic condition
NICE, United Kingdom, Draft Guidance, October 21, 2016 - Webinar: Cancer and Family History- Information you need to assess your risk
NSGC, November 2, 2016 - Delivering on the promise of precision cancer medicine.
Berger Michael F et al. Genome medicine 2016 Oct 8(1) 110
Chronic Diseases
- The skin aging exposome.
Krutmann Jean et al. Journal of dermatological science 2016 Sep - The impact of access to health services on prediabetes awareness: A population-based study.
Campbell Tonya J et al. Preventive medicine 2016 Sep 937-13 - Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.
Wagner Karin N et al. Journal of genetic counseling 2016 Oct - A database of human exposomes and phenomes from the US National Health and Nutrition Examination Survey.
Patel Chirag J et al. Scientific data 2016 Oct 3160096 - Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review.
Didonna Alessandro et al. JAMA neurology 2016 Oct
Ethics, Policy and Law
- The ethics of genome editing: where now?
L Blackburn, PHG Foundation, October 2016 - Approving a Problematic Muscular Dystrophy Drug: Implications for FDA Policy.
Kesselheim Aaron S et al. JAMA 2016 Oct - "This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening.
Steinbach Rosemary J et al. American journal of medical genetics. Part A 2016 Feb 170A(2) 363-74 - The Adoption of Cloud Computing in the Field of Genomics Research: The Influence of Ethical and Legal Issues.
Charlebois Kathleen et al. PloS one 2016 11(10) e0164347 - Ethical, Legal, and Social Implications of Personalized Genomic Medicine Research: Current Literature and Suggestions for the Future.
Callier Shawneequa L et al. Bioethics 2016 Nov 30(9) 698-705 - Precision engagement: the PMI’s success will depend on more than genomes and big data
JK Wagner et al, Genetics in Medicine, October 27, 2016
Genomics in Practice
- Training in Systems Approaches for the Next Generation of Life Scientists and Medical Doctors.
Rozman Damjana et al. Methods in molecular biology (Clifton, N.J.) 2016 138673-86 - Genetic variation: Diving deep into the genome.
Waldron Denise et al. Nature reviews. Genetics 2016 Oct - Creative Minds: Building the RNA Toolbox
Francis Collins, NIH Director Blog, October 2016 - Precision Medicine: the Promise, the Journey, the Future
E Lander, Public Health Grand Rounds, Aspen Institute video, October 2016t - "Maybe they have found something new" participants' views on returning cohort psychosocial survey results.
Bureau Eve et al. Health expectations : an international journal of public participation in health care and health policy 2015 Dec 18(6) 2425-36 - Efficacy of a medical genetics rotation during pediatric training.
Nguyen Joanne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb 18(2) 199-202 - USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.
Brenner Steven E et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2016 21568-75 - The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
Baldo Chiara et al. Orphanet journal of rare diseases 2016 Oct 11(1) 142 - Crowd sourced personal genome database slowly gains momentum
J Kaiser, Science, October 20, 2016 - Pioneering Geneticist Explains Ambitious Plan to "Write" the Human Genome.
Abbasi Jennifer et al. JAMA 2016 Oct - Genetics/genomics education for nongenetic health professionals: a systematic literature review.
Talwar Divya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct - Making gene therapy available at the point of care
J Harris, PHG Foundation, October 24, 2016
Cardiovascular Diseases
- What Should Be the Screening Strategy for Familial Hypercholesterolemia?
McCrindle Brian W et al. The New England journal of medicine 2016 Oct 375(17) 1685-1686 - Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
Wald David S et al. The New England journal of medicine 2016 Oct 375(17) 1628-1637 - Universal Cholesterol Screening in Childhood: A Systematic Review.
Smith Anna Jo et al. Academic pediatrics 16(8) 716-725 - Precision medicine in cardiology.
Antman Elliott M et al. Nature reviews. Cardiology 2016 Oct 13(10) 591-602 - The panorama of familial hypercholesterolemia in Latin America: a systematic review.
Mehta Roopa et al. Journal of lipid research 2016 Oct - Higher Fitness is Strongly Protective in Patients with Family History of Heart Disease: The FIT Project.
Al Rifai Mahmoud et al. The American journal of medicine 2016 Oct
Newborn Screening
- Willingness to Pay for a Newborn Screening Test for Spinal Muscular Atrophy.
Lin Pei-Jung et al. Pediatric neurology 2016 Sep - Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story.
Hayeems Robin Z et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct - Surprisingly few new parents enlist in study to have baby’s genome sequenced
J Kaiser,Science, October 19, 2016
Reproductive Health
- Preimplantation genetic diagnosis of hemophilia A.
Chen Ming et al. Thrombosis journal 2016 14(Suppl 1) 33 - A comprehensive strategy for exome-based preconception carrier screeni
CEH Suzanne et al, Genetics in Medicine, October 27, 2016 - Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.
Drury Suzanne et al. Advances in experimental medicine and biology 2016 92471-75
Pharmacogenomics
- Evaluation of popular drug information resources on clinically useful and actionable pharmacogenomic information.
Chang Jennifer S et al. Journal of the Medical Library Association : JMLA 2016 Jan 104(1) 58-61 - A success story in pharmacogenomics: genetic ID card for SJS/TEN.
Sukasem Chonlaphat et al. Pharmacogenomics 2016 Apr 17(5) 455-8 - Effects of Using Personal Genotype Data on Student Learning and Attitudes in a Pharmacogenomics Course.
Weitzel Kristin Wiisanen et al. American journal of pharmaceutical education 2016 Sep 80(7) 122 - Economic analysis of pharmacogenomic-guided clopidogrel treatment in Serbian patients with myocardial infarction undergoing primary percutaneous coronary intervention.
Mitropoulou Christina et al. Pharmacogenomics 2016 Oct - Role of Cytochrome P450 2B6 Pharmacogenomics in Determining Efavirenz-Mediated Central Nervous System Toxicity, Treatment Outcomes, and Dosage Adjustments in Patients with Human Immunodeficiency Virus Infection.
Vo Teresa T et al. Pharmacotherapy 2016 Oct - Implementation of Pharmacogenetic Testing Within the Veterans Health Administration From 2011 to 2013.
Lynch Julie et al. Military medicine 2016 Oct 181(10) 1375-1381
News/Reviews/Commentaries
- DNA repair: Telomere-lengthening mechanism revealed.
Roake Caitlin M, Artandi Steven E Nature 2016 10 0. .
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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