Publication Date: May 18, 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.
Tamura D et al. The British journal of dermatology 2017 May 176(5) 1125-1126 - After four years, it took a geneticist a few hours to unravel a boy’s puzzling illness
A Bond, Stat News, May 16, 2017 - Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
Cheema Huma Arshad et al. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2016 Jun 26(6) 498-502 - Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors.
Hufton Margaret et al. Developmental medicine and child neurology 2017 May - Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.
Christensen Kurt D et al. Journal of empirical research on human research ethics : JERHRE 2017 Apr 12(2) 97-106 - Can your baby hear you say “I love you?”
Cancer
- New, simple online tool guides genetic testing for Lynch syndrome
Dana Farber, May 2017 - Liquid Biopsies Remain Wait and See for Some Clinicians
Gen BIO, May 15, 2017 - Pathology update to the Manchester Scoring System based on testing in over 4000 families.
Evans D Gareth et al. Journal of medical genetics 2017 May - Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome.
Kastrinos Fay et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 May JCO2016696120 - Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality.
Stanesby Oliver et al. European journal of human genetics : EJHG 2017 May - Application of Panel-Based Tests for Inherited Risk of Cancer.
Shah Payal D et al. Annual review of genomics and human genetics 2017 May - Cost-Effectiveness of a Bronchial Genomic Classifier for the Diagnostic Evaluation of Lung Cancer.
Feller-Kopman David et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 May - Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.
Rey Jean-Marc et al. The Journal of molecular diagnostics : JMD 2017 May - Heightened perception of breast cancer risk in young women at risk of familial breast cancer.
Glassey Rachael et al. Familial cancer 2017 May - Implementing liquid biopsies into clinical decision making for cancer immunotherapy.
Quandt Dagmar et al. Oncotarget 2017 Apr - Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer.
Maxwell Kara N et al. Breast cancer research and treatment 2017 May - Practice Patterns of Hereditary Ovarian Cancer Management in Korea.
Choi Min Chul et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 May - Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years.
Anagnostopoulos Antonios et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 May - Uptake of a 21-gene expression assay in breast cancer practice: views of academic and community-based oncologists.
O'Brien M A et al. Current oncology (Toronto, Ont.) 2017 Apr 24(2) e138-e145 - Improving molecular testing and personalized medicine in non-small-cell lung cancer in Ontario.
Lim C et al. Current oncology (Toronto, Ont.) 2017 Apr 24(2) 103-110 - Multigene expression profile testing in breast cancer: is there a role for family physicians?
O'Brien M A et al. Current oncology (Toronto, Ont.) 2017 Apr 24(2) 95-102 - The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Moghadasi Setareh et al. Journal of medical genetics 2017 May - AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS).
Zeimet Alain G et al. Archives of gynecology and obstetrics 2017 May - Next generation sequencing is informing phenotype: a TP53 example.
O'Shea R et al. Familial cancer 2017 May - Multigene assays: Implications for breast cancer staging.
Greene Frederick L et al. Journal of surgical oncology 2017 May - Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families.
Healey Emma et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - Sociodemographic and attitudinal predictors of simultaneous and redundant multiple marker and cell-free DNA screening among women aged ⩾35 years.
Lewkowitz A K et al. Journal of perinatology : official journal of the California Perinatal Association 2017 May - Multigene testing for breast cancer risk assessment: an illusion of added clinical value.
Sokolenko Anna et al. Chinese clinical oncology 2017 Apr 6(2) 15 - Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.
Zehir Ahmet et al. Nature medicine 2017 May - Roadmap to a Comprehensive Clinical Data Warehouse for Precision Medicine Applications in Oncology.
Foran David J et al. Cancer informatics 2017 161176935117694349 - Decision making, quality of life and prophylactic gastrectomy in carriers of pathogenic CDH1 mutations.
Roberts Geoffrey et al. Translational gastroenterology and hepatology 2017 221 - Circulating Tumor DNA as Biomarkers for Cancer Detection.
Han Xiao et al. Genomics, proteomics & bioinformatics 2017 Apr 15(2) 59-72 - Selecting postoperative adjuvant systemic therapy for early stage breast cancer: A critical assessment of commercially available gene expression assays.
Hyams David M et al. Journal of surgical oncology 2017 Feb - Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
Frey Melissa K et al. Gynecologic oncology 2017 May - Sample types applied for molecular diagnosis of therapeutic management of advanced non-small cell lung cancer in the precision medicine.
Han Yanxi et al. Clinical chemistry and laboratory medicine 2017 May - Advantages and Some Remaining Challenges in Hereditary Gastrointestinal Cancer Panel Testing.
Maga Tara et al. Clinical and translational gastroenterology 2017 May 8(5) e92 - Universal molecular screening does not effectively detect Lynch syndrome in clinical practice.
Brennan Beatrice et al. Therapeutic advances in gastroenterology 2017 Apr 10(4) 361-371
Chronic Diseases
- Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.
Jaitovich Groisman Iris et al. European journal of human genetics : EJHG 2017 May - Gene-Environment Interactions in Preventive Medicine: Current Status and Expectations for the Future.
Narimatsu Hiroto et al. International journal of molecular sciences 2017 Jan 18(2) - Gene and environment interaction: Is the differential susceptibility hypothesis relevant for obesity?
Dalle Molle Roberta et al. Neuroscience and biobehavioral reviews 2017 Feb 73326-339 - A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy Noémi B A et al. British journal of haematology 2016 Oct 175(2) 318-330 - Educational Gaps in Molecular Diagnostics, Genomics, and Personalized Medicine in Dermatopathology Training: A Survey of US Dermatopathology Fellowship Program Directors.
Torre Kristin et al. The American Journal of dermatopathology 2017 May - Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
Walsh Maie et al. Annals of clinical and translational neurology 2017 May 4(5) 318-325 - The genetics of human longevity: an intricacy of genes, environment, culture and microbiome.
Dato Serena et al. Mechanisms of ageing and development 2017 Apr - Things genes can’t do
A Buchanan, Aeon Magazine, 2017 - The Genetics of Pooched-Out Pooches - A mutation in some obesity-prone dog breeds might reveal new risk factors for obesity in humans —and perhaps give rise to new drugs.
R Khamsi, New York Times, May 2017 - Leveraging genomic data in smoking cessation trials in the era of Precision Medicine: Why and how.
Chen Li-Shiun et al. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2017 May - A computational algorithm for personalized medicine in schizophrenia.
Lee Beom S et al. Schizophrenia research 2017 May
Ethics, Policy and Law
- New Gene Tests Pose a Threat to Insurers
G Kolata, New York Times, May 2017 - "My Whole Life is Ethics!" Ordinary Ethics and Gene Therapy Clinical Trials.
Addison Courtney et al. Medical anthropology 2017 May - Gene patents still alive and kicking: their impact on provision of genetic testing for long QT syndrome in the Canadian public health-care system.
Ali-Khan Sarah E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - Myriad take two: Can genomic databases remain secret?
Christi J. Guerrini, et al, Science, May 12, 2017
Genomics in Practice
- A Decade Later, a Patient Finds Out Her Genetic Test Was Wrong,
by Sarah Zhang, The Atlantic, May 11, 2017 - Inter-Society Coordinating Committee for Practitioner Education in Genomics
- Uninformed consent in nutrigenomic research.
Janssens A Cecile Jw et al. European journal of human genetics : EJHG 2017 May - Patient and community attitudes toward perioperative biobanking and genomic research.
Liddell J et al. Anaesthesia and intensive care 2017 May 45(3) 384-395 - Embracing an "African Ethos" to facilitate African immigrants participation in medical genetics and genomics research.
Buseh Aaron G et al. Nursing outlook 65(1) 9-17 - Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test.
Shum Bennett O V et al. The Journal of molecular diagnostics : JMD 2017 May - A 'joint venture' model of recontacting in clinical genomics: Challenges for responsible implementation.
Dheensa Sandi et al. European journal of medical genetics 2017 May - Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
Bick David et al. Journal of pediatric genetics 2017 Jun 6(2) 61-76 - Health Disparities: Big Data to the Rescue?
F Wood, National Library of Medicine, May 16, 2017 - Generalizable Biomarkers in Critical Care: Toward Precision Medicine.
Sweeney Timothy E et al. Critical care medicine 2017 Jun 45(6) 934-939 - Integration of biomarkers to advance precision nursing interventions for family research across the life span.
Corwin Elizabeth J et al. Nursing outlook 64(4) 292-8 - Differential analysis of mutations in the Jewish population and their implications for diseases.
Einhorn Yaron et al. Genetics research 2017 May 99e3 - Dissemination and Implementation Research: From a Reporting Framework to Precision Medicine.
Chambers David A et al. American journal of public health 2017 Jun 107(6) 839-840 - G2C2 expands genomic resources for health professionals
K Palmer, NHGRI, May 2017 - This $25,000 physical has found some ‘serious’ health problems. Others say it has serious problems
R Cross, Science, May 12, 2017 - Knowing your family’s health history can help you stay healthier,
by Dr. Gretchen Wells, Lexington Herald Leader, May 14, 2017 - Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp Keith et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - Genome Sequencing for Healthy Individuals? Think Big and Act Small!
MJ Khoury et al, CDC Blog Post, May 17, 2017
Cardiovascular Diseases
- Heritability and risks associated with early onset hypertension: multigenerational, prospective analysis in the Framingham Heart Study.
Niiranen Teemu J et al. BMJ (Clinical research ed.) 2017 May 357j1949 - New data on familial hypercholesterolaemia and acute coronary syndromes: The promise of PCSK9 monoclonal antibodies in the light of recent clinical trials.
Ellis Katrina L et al. European journal of preventive cardiology 2017 Jan 2047487317708890 - The rationale and design of the national familial hypercholesterolemia registries in Turkey: A-HIT1 and A-HIT2 studies.
Kayikçioglu Meral et al. Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2017 Apr 45(3) 261-267 - Transitioning from pediatric to adult health care with familial hypercholesterolemia: Listening to young adult and parent voices.
Sliwinski Samantha K et al. Journal of clinical lipidology 11(1) 147-159 - Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
Brown Emily E et al. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2017 May 1-4
Newborn Screening
- New tools and approaches to newborn screening: ready to open Pandora's box?
Ficicioglu Can et al. Cold Spring Harbor molecular case studies 2017 May 3(3) a001842 - An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.
Blom Maartje et al. Clinical immunology (Orlando, Fla.) 2017 May - The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.
Grosse Scott D et al. The Milbank quarterly 2016 Jun 94(2) 366-91 - Education for fathers about newborn screening and leftover dried blood spots.
Rothwell Erin et al. Journal of community genetics 2017 May - A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Brunelli Luca et al. American journal of medical genetics. Part A 2017 May
Reproductive Health
- Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.
Hill Melissa et al. Health expectations : an international journal of public participation in health care and health policy 2017 May - Recommended practice for laboratory reporting of non-invasive prenatal testing (NIPT) of trisomies 13, 18 and 21: a consensus opinion.
Deans Zandra C et al. Prenatal diagnosis 2017 May
Pharmacogenomics
- Genotype-guided dosing of warfarin through modeling and simulation.
Deng Jiexin et al. European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences 2017 May - The Importance of Gene-Drug-Drug-Interactions in Pharmacogenomics Decision Support: An Analysis Based on Austrian Claims Data.
Blagec Kathrin et al. Studies in health technology and informatics 2017 236121-127 - Distribution of polymorphic variants of CYP2A6 and their involvement in nicotine addiction.
López-Flores Luis A et al. EXCLI journal 2017 16174-196 - Personalized Therapeutics and Pharmacogenomics: Integral to Personalized Health Care.
Sadee Wolfgang et al. Pharmaceutical research 2017 May
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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