Publication Date: Oct 26, 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler Kameryn M et al. Pediatric neurology 2017 Sep - Genetics account for 83% of autism risk, re-do study finds
C Curtin, Genetic Literacy Project, Oct 23, 2017 - Pathways from autism spectrum disorder diagnosis to genetic testing.
Barton Krysta S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - What Should Gene Therapy Cost?
R Lewis, PLOS Blogs, Oct 26, 2017 - Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists.
Skalet Alison H et al. Ophthalmology 2017 Oct - Gene therapy for inherited retinal and optic nerve degenerations.
Moore Nicholas A et al. Expert opinion on biological therapy 2017 Oct 1-13 - Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy.
Engelen Marc et al. The New England journal of medicine 2017 Oct 377(17) 1682-1684 - Gene Therapy Approaches to Immunodeficiency.
Ghosh Sujal et al. Hematology/oncology clinics of North America 2017 Oct 31(5) 823-834 - A recessive ataxia diagnosis algorithm for the next-generation sequencing era.
Renaud Mathilde et al. Annals of neurology 2017 Oct
Cancer
- International consortium adds 72 genetic variants to list of known breast cancer associations
Division of Cancer Epidemiology and Genetics, NCI, Oct 23, 2017 - Ultra-personal therapy: Gene tumor boards guide cancer care
Stat News, Oct 2017 - Molecular Tumor Boards: Current Practice and Future Needs.
van der Velden D L et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Sep - Study Uses Open Data to Analyze “Normal” Tissue Near Tumors
- Impacts of Early Guideline-Directed 21-Gene Recurrence Score Testing on Adjuvant Therapy Decision Making.
Dzimitrowicz Hannah et al. Journal of oncology practice 2017 Oct JOP2017022731 - BRCA mutations in women with inflammatory breast cancer.
Gutierrez Barrera Angelica M et al. Cancer 2017 Oct - Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations.
Kearton Stephanie et al. Familial cancer 2017 Oct - Personalized treatment of women with early breast cancer: a risk-group specific cost-effectiveness analysis of adjuvant chemotherapy accounting for companion prognostic tests OncotypeDX and Adjuvant!Online.
Jahn Beate et al. BMC cancer 2017 Oct 17(1) 685 - Major study of genetics of breast cancer provides clues to mechanisms behind the disease
University of Cambridge, UK, Oct 23, 2017 - Prevention and Early Detection for Hereditary Cancer Syndromes
Division of Cancer Control and Population Sciences, NCI, 2017 - Influence of Risk Category and Screening Round on the Performance of an MR Imaging and Mammography Screening Program in Carriers of the BRCA Mutation and Other Women at Increased Risk.
Vreemann Suzan et al. Radiology 2017 Oct 170458 - DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.
Schultz Kris Ann P et al. Gynecologic oncology 2017 Oct - Personalized melanoma genomic risk information:perception of shared risk initiates sharing with family.
Robinson J K et al. The British journal of dermatology 2017 Oct 177(4) 890-891 - Prospective, multicenter French study evaluating the clinical impact of the Breast Cancer Intrinsic Subtype-Prosigna® Test in the management of early-stage breast cancers.
Hequet Delphine et al. PloS one 2017 12(10) e0185753 - Immuno-Oncology - the translational runway for gene therapy.
Weß Ludger et al. Human gene therapy 2017 Oct - Validation of risk stratification models in acute myeloid leukemia using sequencing-based molecular profiling.
Wang M et al. Leukemia 2017 Oct 31(10) 2029-2036 - Authors' Response: "Angelina Jolie Effect" on the Shifting Role of BRCA Testing in the U.S.
Guo Fangjian et al. American journal of preventive medicine 2017 Nov 53(5) e197-e199 - Increased Use of BRCA Mutation Test in Unaffected Women Over the Period 2004-2014 in the U.S.: Further Evidence of the "Angelina Jolie Effect"?
Nabi Hermann et al. American journal of preventive medicine 2017 Nov 53(5) e195-e196 - Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature.
Hoskins Paul J et al. CA: a cancer journal for clinicians 2017 Sep - Pre-Application Webinar on Approaches to Identify and Care for Individuals with Inherited Cancer Syndromes
View archived NCI webinar and power point slides, Oct 2017 - Researchers quantify breast cancer risk based on rare variants and background risk
Eureka Alert, ASHG highlights, Oct, 2017 - 1 to 10 mutations are needed to drive cancer, scientists find
Sanger Institute, Oct 19, 2017 - Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer.
Campacci Natalia et al. Cancer medicine 2017 Oct - Analytical Validation of a Next-Generation Sequencing Assay to Monitor Immune Responses in Solid Tumors.
Conroy Jeffrey M et al. The Journal of molecular diagnostics : JMD 2017 Oct - Evaluation of a next-generation sequencing assay for BRCA1 and BRCA2 mutation detection.
Capone Gabriele Lorenzo et al. The Journal of molecular diagnostics : JMD 2017 Oct
Chronic Disease
- Genetic signatures in ischemic stroke: Focus on aspirin resistance.
Munshi Anjana et al. CNS & neurological disorders drug targets 2017 Oct - The Involvement of miRNA in Carotid-Related Stroke.
Maitrias Pierre et al. Arteriosclerosis, thrombosis, and vascular biology 2017 Sep 37(9) 1608-1617 - Using omics approaches to understand pulmonary diseases.
Kan Mengyuan et al. Respiratory research 2017 Aug 18(1) 149 - Personalized medicine and chronic obstructive pulmonary disease.
Wouters E F M et al. Current opinion in pulmonary medicine 2017 May 23(3) 241-246 - Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?
Laberge Anne-Marie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - Chronic Obstructive Pulmonary Disease Phenotypes: Implications for Care.
Mirza Shireen et al. Mayo Clinic proceedings 2017 Jul 92(7) 1104-1112
Ethics/Policy/Law
- 'It is an entrustment': Broad consent for genomic research and biobanks in Sub-Saharan Africa.
Tindana Paulina et al. Developing world bioethics 2017 Oct - Considering the Benefits and Risks of Research Participants' Access to Sequence Data.
Haga Susanne B et al. Genetic testing and molecular biomarkers 2017 Oct
Practice
- Precision medicine is needed to address health disparities[PDF 3.48 MB]
C Rotimi, slide presentation, CDC-NIH Webinar Oct 11, 2017 - Use of Metabolomics in Improving Assessment of Dietary Intake.
Guasch-Ferré Marta et al. Clinical chemistry 2017 Oct - Electronic health record and genome-wide genetic data in Generation Scotland participants.
Kerr Shona M et al. Wellcome open research 2017 285 - Introducing personalized health for the family: the experience of a single hospital system.
Huddleston Kathi L et al. Pharmacogenomics 2017 Oct - David Bowie and the Art of Slow Innovation: A Fast-Second Winner Strategy for Biotechnology and Precision Medicine Global Development.
Özdemir Vural et al. Omics : a journal of integrative biology 2017 Oct - High participation rate among 25 721 patients with broad age range in a hospital-based research project involving whole-genome sequencing - the Lausanne Institutional Biobank.
Bochud Murielle et al. Swiss medical weekly 2017 Oct 147w14528 - Preoperative Genetic Testing and Personalized Medicine: Changing the Care Paradigm.
Gabriel Rodney A et al. Journal of medical systems 2017 Oct 41(12) 185 - Standard Versus Simplified Consent Materials for Biobank Participation: Differences in Patient Knowledge and Trial Accrual.
Garrett Sarah B et al. Journal of empirical research on human research ethics : JERHRE 2017 Oct 1556264617731869 - Mixed reviews of at-home genetic testing
Facing our risk empowered, XRAYS, Oct 2017 - The Future of DNA Sequencing Will Be in the Palm of Your Hand
JD Watson et al, Time, Oct 12, 2017 - Precision medicine alone cannot address health disparities[PDF 452 KB]
Dr Burke's presentation, CDC-NIH webinar, Oct 11, 2017 - Precision Medicine and Public Health: Beyond Genomics
One hour NCI-CDC webcast, March 2017 - Objective Metabolomics Research
M Ala-Korpela, Clinical Chemistry, Oct 2017 - CRISPR hacks enable pinpoint repairs to genome: Precision tools expand the number of ‘base editors’ available for manipulating DNA and RNA.
E Dolgin, Nature, Oct 25, 2017 - Using a genetic/clinical risk score to stop smoking (GeTSS): randomised controlled trial.
Nichols John A A et al. BMC research notes 2017 Oct 10(1) 507 - Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study.
Hoskovec Jennifer M et al. Journal of genetic counseling 2017 Oct
Cardiovascular Diseases
- Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population.
Abdul-Razak Suraya et al. BMC cardiovascular disorders 2017 Oct 17(1) 264 - Precision Medicine for Cardiac Resynchronization: Predicting Quality of Life Benefits for Individual Patients-An Analysis From 5 Clinical Trials.
Nassif Michael E et al. Circulation. Heart failure 2017 Oct 10(10) - New Research Identifies Health Disparities Among Adults with Familial Hypercholesterolemia (FH)
PR Newswire, Oct 23, 2017 - Is everyone with FH treated equally?
S Seim, the FH foundation, October 24, 2017 - Clinical Application of Genetic Testing in Heart Failure.
Morales Ana et al. Current heart failure reports 2017 Oct - Detection and management of familial hypercholesterolaemia in primary care in Australia: protocol for a pragmatic cluster intervention study with pre-post intervention comparisons.
Arnold-Reed Diane E et al. BMJ open 2017 Oct 7(10) e017539 - Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.
Louis Clauden et al. Current opinion in cardiology 2017 Oct
Newborn Screening
- Severe Combined Immunodeficiency (SCID): CDC Laboratory Activities and State Funding
- New controversial screening tests newborns for 1,800 conditions
CBS Newswire, Oct 24, 2017 - The "States" of Newborn Screening.
Anderson Sharon et al. MCN. The American journal of maternal child nursing 42(6) 358-359 - DNA scan for infants raise questions of privacy and discrimination
CBS News, Oct 24, 2017
Pharmacogenomics
- Genetic testing in antiplatelet therapy - not effective for perioperative bleeding.
Kuliczkowski Wiktor et al. Postepy w kardiologii interwencyjnej = Advances in interventional cardiology 2017 13(3) 187-188 - OCT1 pharmacogenetics in pain management: is a clinical application within reach?
Tzvetkov Mladen V et al. Pharmacogenomics 2017 Oct - Pharmacogenetics-based population pharmacokinetic analysis of tenofovir in Thai HIV-infected patients.
Rungtivasuwan Kanokrat et al. Pharmacogenomics 2017 Oct - Pharmacogenetics: a general review on progress to date.
Daly Ann K et al. British medical bulletin 2017 Oct 1-15 - Genetic testing to predict medication side effects
R Shmerling, Harvard Medical, School, October 16, 2017
Reproductive Health
- Parental Experiences of Prenatal Whole Exome Sequencing (WES) in Cases of Ultrasound Diagnosed Fetal Structural Anomaly.
Quinlan-Jones Elizabeth et al. Prenatal diagnosis 2017 Oct - An Incidental Finding of Maternal Multiple Myeloma by Non Invasive Prenatal Testing.
Imbert-Bouteille Marion et al. Prenatal diagnosis 2017 Oct - What's New in Prenatal Genetics? A Review of Current Recommendations and Guidelines.
Post Annalisa L et al. Obstetrical & gynecological survey 2017 Oct 72(10) 610-617 - Comment on "The clinical utility of genome-wide non invasive prenatal screening".
Grati Francesca Romana et al. Prenatal diagnosis 2017 Oct 37(10) 1050-1052 - A closer look at expanded carrier screening from a PGD perspective.
Vaz-de-Macedo Carolina et al. Human reproduction (Oxford, England) 2017 Oct 32(10) 1951-1956 - Added value of Chromosomal Microarray Analysis (CMA) over karyotyping in Early Pregnancy Loss - a Systematic Review and Meta-Analysis.
Pauta Montse et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Oct
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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