Publication Date: Aug 10, 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
- Study: Most newborns with epilepsy benefit from genetic testing
Science Mag, August 3, 2017 - Fragile X Syndrome
CDC portal - Fragile X syndrome: an overview and update of the FMR1 gene.
Mila Montserrat et al. Clinical genetics 2017 Jun - Fragile X: Experts say all women should be offered screening for genetic condition
ABC News Australia, August 5, 2017 - European Reference networks for rare diseases: what is the conceptual framework?
Héon-Klin Véronique et al. Orphanet journal of rare diseases 2017 Aug 12(1) 137
Cancer
- Massive study launched to test personalized approach to breast cancer screening,
UC Davis, July 26, 2017 - BRCA population screening for predicting breast cancer: for or against?
G Lippi et al, Ann Trans Med, July 2017 - Cancer at Baseline Screening in Patients With Li-Fraumeni Syndrome
ASCO Post, August 4, 2017 - Surveillance of Dutch Patients With Li-Fraumeni Syndrome: The LiFe-Guard Study
Ruijs Marielle W G et al. JAMA oncology 2017 Aug - Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.
Liang Margaret I et al. Journal of genetic counseling 2017 Aug - Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test.
Nguyen Kevin A et al. Cancer 2017 Aug - Telomeres and telomerase in prostate cancer development and therapy.
Graham Mindy Kim et al. Nature reviews. Urology 2017 Jul - Genomics in Primary and Secondary Prevention of Pancreatic Cancer.
Malats Núria et al. Public health genomics 2017 Jul - NCI study shows feasibility of cancer screening protocol for Li-Fraumeni syndrome patients
Science Mag, August 3, 2017 - Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Kratz Christian P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 23(11) e38-e45 - Editorial: Use of Gene Expression Profiles to Distinguish Molecular Subtypes in Colorectal Cancer: Progression Toward Primetime
JF Seligmann, JNCI 2017 - DNA Repair Dysfunction in Pancreatic Cancer: A Clinically Relevant Subtype for Drug Development.
Golan Talia et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Aug 15(8) 1063-1069 - Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome.
Samadder N Jewel et al. JAMA oncology 2017 Aug - Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging
Ballinger Mandy L et al. JAMA oncology 2017 Aug - Implementing precision cancer medicine in the public health services of Norway: the diagnostic infrastructure and a cost estimate.
Ree Anne Hansen et al. ESMO open 2017 2(2) e000158 - Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis
Ballinger Mandy L et al. JAMA oncology 2017 Aug - NCI study identifies essential genes for cancer immunotherapy
NCI, August 7, 2017 - When it Comes to Genetic Information, Sharing is Caring,
Kaylene Ready, Huffpost, August 3, 2017 - Can a ‘liquid biopsy’ detect cancer and save lives?
S Begley, Stat News, August 9, 2017 - Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort
Mai Phuong L et al. JAMA oncology 2017 Aug - Dual-Biomarker Blood Test Shows Promise for Pancreatic Cancer Early Detection
NCI News, August 9, 2017 - Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.
Goldberg Mira et al. Journal of medical genetics 2017 Aug - Systematic immunohistochemical screening for mismatch repair and ERCC1 gene expression from colorectal cancers in China: Clinicopathological characteristics and effects on survival.
Li Pan et al. PloS one 2017 12(8) e0181615 - Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk.
O'Leary Erin et al. Annals of surgical oncology 2017 Aug - Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.
Ryan Neil A J et al. JAMA oncology 2017 Aug - Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group.
Sonneveld Pieter et al. Blood 2016 Jun 127(24) 2955-62 - High-risk family colorectal cancer screening service in Ireland: Critical review of clinical outcomes.
Walshe Margaret et al. Cancer epidemiology 2017 Aug 50(Pt A) 30-38 - Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.
Kanth Priyanka et al. The American journal of gastroenterology 2017 Aug
Chronic Disease
- Families bear the burden of this disease in silence. Pope Francis made us into a community
M Gable, Stat News, August 8, 2017 - Blue Genes? Understanding and Mitigating Negative Consequences of Personalized Information about Genetic Risk for Depression.
Lebowitz Matthew S et al. Journal of genetic counseling 2017 Aug - Cigarette smoking and telomere length: A systematic review of 84 studies and meta-analysis.
Astuti Yuliana et al. Environmental research 2017 Jul 158480-489 - Hemochromatosis and blood donation.
Braseth Turid Aarhus et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2017 Jun 56(3) 485-489 - Don't order HFE genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.
American College of Medical Genetics, 2015 - The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers.
Tippett Lynette J et al. Advances in neurobiology 2017 15129-161 - Huntington's Disease: Pathogenic Mechanisms and Therapeutic Targets.
Wright Dean J et al. Advances in neurobiology 2017 1593-128 - What do we know about Late Onset Huntington's Disease?
Chaganti Sai S et al. Journal of Huntington's disease 2017 6(2) 95-103 - Prioritising Causal Genes at Type 2 Diabetes Risk Loci.
Grotz Antje K et al. Current diabetes reports 2017 Sep 17(9) 76 - Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes
Grosse Scott D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug - Mechanisms of Type 2 Diabetes Risk Loci.
Gaulton Kyle J et al. Current diabetes reports 2017 Sep 17(9) 72 - Finding the Right Medication: Gene Test May Help Treat Depression,
by Shamard Charles, M.D. and Lauren Dunn, NBC News, August 7, 2017
Ethics/Policy/Law
- Controlling the signal: Practical privacy protection of genomic data sharing through Beacon services.
Wan Zhiyu et al. BMC medical genomics 2017 Jul 10(Suppl 2) 39 - Genome Editing
National Human Genome Research Institute, 2017 - Editing embryos – Could you? Would you? Should you? Views from Genetic Counsellors
A Middleton, Sanger Institute, UK, August 3, 2017 - Precision medicine, health disparities, and ethics: the case for disability inclusion.
Sabatello Maya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug - PRESAGE: PRivacy-preserving gEnetic testing via SoftwAre Guard Extension.
Chen Feng et al. BMC medical genomics 2017 Jul 10(Suppl 2) 48
Practice
- Big data yields surprising connections between diseases
Science Mag, August 7, 2017 - A primer to clinical genome sequencing.
Priest James R et al. Current opinion in pediatrics 2017 Aug - Gene Editing Could Stop Cancer, Diabetes and Bioterrorism: An Interview With CRISPR Scientist Jennifer Doudna
J Firger, Newsweek, August 5, 2017 - Gene Editing for ‘Designer Babies’? Highly Unlikely, Scientists Say
P Belluck, New York Times, August 3, 2017 - Big data opens a window onto wellness
Butte Atul J et al. Nature biotechnology 2017 Aug 35(8) 720-721 - Help wanted in biotech: Demand for genetic counselors exploding
CNBC, August 4, 2017 - Medicine Is Getting More Precise … For White People
R Arthur, Five Thirty Eight, August 2, 2017 - Can Gene Editing Actually Do That?
H Murphy, New York Times, August 4, 2017 - Beyond the Status Quo: 5 Strategic Moves to Position State and Territorial Public Health Agencies for an Uncertain Future
M Fraser et al, J Public Health Management & Policy, September 2017
Cardiovascular Diseases
- Ancestry, Telomere Length, and Atherosclerosis Risk.
Benetos Athanase et al. Circulation. Cardiovascular genetics 2017 Jun 10(3)
Newborn Screening
- Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
SD Grosse, CDC Blog Post, 2016 - Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future
J King et al, International Journal of Neonatal Screening 2017, 3(3), 19
Pharmacogenomics
- Exploring public genomics data for population pharmacogenomics.
Lakiotaki Kleanthi et al. PloS one 2017 12(8) e0182138 - Systematic evaluation of commercial pharmacogenetic testing in psychiatry: a focus on CYP2D6 and CYP2C19 allele coverage and results reporting.
Bousman Chad A et al. Pharmacogenetics and genomics 2017 Aug
Reproductive Health
- 11 Organizations Urge Cautious but Proactive Approach to Gene Editing Medical, Research, and Counseling Groups Issue Statement on Germline Genome Editing
American Society for Human Genetics, August 3, 2017 - Commit to talks on patient data and public health
V Parry, Nature, August 8, 2017 - Supporting Women's Autonomy in Prenatal Testing.
Johnston Josephine et al. The New England journal of medicine 2017 Aug 377(6) 505-507 - Correction of a faulty gene in human embryos
Science Mag, August 2, 2017 - The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth.
Cariati Federica et al. Clinical chemistry and laboratory medicine 2017 Aug
Funding
- NIH Awards $18.9M to Fund Clinical Genomics Consortium,
Genome Web, August 8, 2017 - NIH accelerates the use of genomics in clinical care- New funding awards focus on diverse and underserved populations.
NIH News, August 7, 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.
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