Publication Date: Dec 7, 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
- First Person Receives Gene Editing in the Body
K Sheikh, Genome Magazine, Nov 2017
- How the Undiagnosed Diseases Network helped solve my daughters medical mystery
H and B Reilly, Texas Children Hospital
- Screening for Duchenne muscular dystrophy in Germany, 1977-2011: A personal story.
Scheuerbrandt Günter et al. Muscle & nerve 2017 Oct
- Situational Analysis of Sickle Cell Disease in Gujarat, India.
Saxena Deepak et al. Indian journal of community medicine : official publication of Indian Association of Preventive & Social Medicine 42(4) 218-221
- Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.
Duffy Kelly A et al. Journal of genetic counseling 2017 Dec
- The outcome of cochlear implantation among children with genetic syndromes.
Alzhrani Farid et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2017 Dec
- Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al. Scientific reports 2017 Dec 7(1) 16783
- NTBC and Correction of Renal Dysfunction.
Maiorana Arianna et al. Advances in experimental medicine and biology 2017 95993-100
- The accuracy of hospital ICD-9-CM codes for determining Sickle Cell Disease genotype.
Snyder Angela B et al. Journal of rare diseases research & treatment 2017 2(4) 39-45
- Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.
Mori Yuka et al. Journal of autism and developmental disorders 2017 Nov
- Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry.
Mori-Yoshimura Madoka et al. Brain & development 2017 Nov
- Testing for BRCA1/2 Mutations.
Sefton Philip et al. JAMA 2017 318(20) 2054
- Panitumumab use in metastatic colorectal cancer and patterns of RAS testing: results from a Europe-wide physician survey and medical records review.
Han van Krieken J et al. BMC cancer 2017 Nov 17(1) 798
- Estimating the number of potential family members eligible for BRCA1 and BRCA2 mutation testing in a "Traceback" approach.
Moss Haley A et al. Genetic epidemiology 2017 Nov
- CRISPR Enables Cancer Immunotherapy Drug Discovery
Dana Farber Blog, Nov 30, 2017
- Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up
MK Interrante et al, JNCI Cancer Spectrum, Sept 2017
- The feasibility of detecting endometrial and ovarian cancer using DNA methylation biomarkers in cervical scrapings.
Chang Cheng Chang et al. Journal of gynecologic oncology 2018 Jan 29(1) e17
- Genomic Heterogeneity as a Barrier to Precision Medicine in Gastroesophageal Adenocarcinoma.
Pectasides Eirini et al. Cancer discovery 2017 Oct
- Are Comprehensive Next-generation Sequencing Analyses Really Required for the Management of Patients With Melanoma to Date?
Uguen Arnaud et al. Applied immunohistochemistry & molecular morphology : AIMM 2017 Oct
- Cell free DNA analysis by SiRe® next generation sequencing panel in non small cell lung cancer patients: focus on basal setting.
Pisapia Pasquale et al. Journal of thoracic disease 2017 Oct 9(Suppl 13) S1383-S1390
- Urine test for EGFR analysis in patients with non-small cell lung cancer.
Franovic Aleksandra et al. Journal of thoracic disease 2017 Oct 9(Suppl 13) S1323-S1331
- Evaluation of Urinary DNA Methylation as a Marker for Recurrent Bladder Cancer: a Two-Center Prospective Study.
Shindo Tetsuya et al. Urology 2017 Nov
- Identification of a histone family gene signature for predicting the prognosis of cervical cancer patients.
Li Xiaofang et al. Scientific reports 2017 Nov 7(1) 16495
- Racial disparities in omission of oncotype DX but no racial disparities in chemotherapy receipt following completed oncotype DX test results.
Press David J et al. Breast cancer research and treatment 2017 Nov
- Current WHO guidelines and the critical role of immunohistochemical markers in the subclassification of non-small cell lung carcinoma (NSCLC): Moving from targeted therapy to immunotherapy.
Osmani Lais et al. Seminars in cancer biology 2017 Nov
- Prevalence and clinical association of gene mutations through Multiplex Mutation Testing in patients with NSCLC: Results from the ETOP Lungscape Project.
Kerr K M et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Nov
- Histologic Features Do Not Reliably Predict Mismatch Repair Protein Deficiency in Colorectal Carcinoma: The Results of a 5-Year Prospective Evaluation.
Olevian Dane C et al. Applied immunohistochemistry & molecular morphology : AIMM 2017 Nov
- Sexual Health Is Paramount in the Counseling of Women at Risk for Breast or Ovarian Cancer Undergoing Risk-Reducing Surgery.
Rullo Jordan E et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Nov 15(11) 1297-1299
- KRAS biomarker testing disparities in colorectal cancer patients in New Mexico.
Greenbaum Alissa et al. Heliyon 2017 Nov 3(11) e00448
- [THE IMPACT OF MOLECULAR PROFILING USING NEXT-GENERATION SEQUENCING IN ADVANCED LUNG CANCER].
Belilovski Rozenblum Anna et al. Harefuah 2017 Nov 156(11) 686-691
- A Field Guide for Cancer Diagnostics using cell-free DNA: From Principles to Practice and Clinical Applications.
Volckmar Anna-Lena et al. Genes, chromosomes & cancer 2017 Dec
- The Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers without a First-Degree Relative with Breast Cancer.
Metcalfe K A et al. Clinical genetics 2017 Dec
- High-Risk Palliative Care Patients' Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking.
Quillin John M et al. Journal of genetic counseling 2017 Dec
- Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population.
Fenton Georgina L et al. Journal of genetic counseling 2017 Dec
- Population-Based Study to Determine the Health System Costs of Using the 21-Gene Assay.
Mittmann Nicole et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Dec JCO2017742577
- Cancer genetic counseling communication with low-income Chinese immigrants.
Cheng Janice Ka Yan et al. Journal of community genetics 2017 Dec
- Path toward Precision Oncology: Review of Targeted Therapy Studies and Tools to Aid in Defining "Actionability" of a Molecular Lesion and Patient Management Support.
Chae Young Kwang et al. Molecular cancer therapeutics 2017 Dec 16(12) 2645-2655
- The use of panel testing in familial breast and ovarian cancer.
Prapa Matina et al. Clinical medicine (London, England) 2017 Dec 17(6) 568-572
- Clinical outcomes in ER+ HER2 -node-positive breast cancer patients who were treated according to the Recurrence Score results: evidence from a large prospectively designed registry.
Stemmer Salomon M et al. NPJ breast cancer 2017 332
- Personalizing Adjuvant Therapy for Stage II/III Colorectal Cancer.
McCleary Nadine Jackson et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Meeting 2017 37232-245
- European/U.S. Comparison and Contrasts in Ovarian Cancer Screening and Prevention in a High-Risk Population.
Mourits Marian J et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Meeting 2017 37124-127
- Tumor Evolution, Heterogeneity, and Therapy for Our Patients With Advanced Cancer: How Far Have We Come?
El-Deiry Wafik S et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Meeting 2017 37e8-e15
- Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.
Rizk Malak et al. Pharmacogenomics and personalized medicine 2017 10267-278
- Hereditary gynaecologic cancers in Nepal: a proposed model of care to serve high risk populations in developing countries.
Pokharel Hanoon P et al. Hereditary cancer in clinical practice 2017 1512
- Management of hereditary breast and ovarian cancer.
Yamauchi Hideko et al. International journal of clinical oncology 2017 Nov
- The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer.
Vasen Hans F A et al. Familial cancer 2017 Dec
- Identification and management of familial breast cancer in Austria.
Singer Christian F et al. Hormone molecular biology and clinical investigation 2017 Nov
- Somatic TP53 variants frequently confound germ-line testing results.
Weitzel Jeffrey N et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov
- Is nonmetastatic cutaneous melanoma predictable through genomic biomarkers?
Branca Mattia et al. Melanoma research 2017 Nov
- Prognostic utility of six mutated genes for older patients with acute myeloid leukemia.
Wang Jinghan et al. International journal of cancer 2017 Nov
- Development and Validation of a Novel Integrated Clinical-Genomic Risk Group Classification for Localized Prostate Cancer.
Spratt Daniel E et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Nov JCO2017742940
- Scientific Evidence for Personalized Nutrition: Ethical Implications of Methological Limitations
C Jannsens, Slide Presentation, Dec 2017
- Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study
Lata Sneh et al. Annals of internal medicine 2017 Dec
- The impact of genetic counselors' use of facilitative strategies on cognitive and emotional processing of genetic risk disclosure for Alzheimer's disease.
Guan Yue et al. Patient education and counseling 2017 Nov
- Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Ortega-Moreno Laura et al. PloS one 2017 12(11) e0188978
- Genetics and biobanks converge to resolve a vexing knowledge gap in diabetes.
Florez Jose C et al. The lancet. Diabetes & endocrinology 2017 Nov
- Don't order APOE genetic testing as a predictive test for Alzheimer disease.
American College of Medical Genetics and Genomics, Choosing Wisely Campaign Recommendation, 2016
Ethical, Legal and Social Issues (ELSI)
- A Comprehensive Cancer Gene Test Gets the Go-Ahead
K Sheikh, Genome Magazine, Dec 4, 2017
- FDA announces approval, CMS proposes coverage of first breakthrough-designated test to detect extensive number of cancer biomarkers,
FDA News Release, November 30, 2017
- One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans.
Howard Heidi C et al. European journal of human genetics : EJHG 2017 Nov
- Applications of pharmacogenomics in regulatory science: a product life cycle review.
Tan-Koi W C et al. The pharmacogenomics journal 2017 Dec
- Insurance for broad genomic tests in oncology.
Eisenberg Rebecca et al. Science (New York, N.Y.) 2017 358(6367) 1133-1134
- Predictive accuracy of combined genetic and environmental risk scores.
Dudbridge Frank et al. Genetic epidemiology 2017 Nov
- Points to consider for laboratories reporting results from diagnostic genomic sequencing.
Vears D F et al. European journal of human genetics : EJHG 2017 Nov
- Data, data everywhere: the challenges of personalised medicine.
Armstrong Stephen et al. BMJ (Clinical research ed.) 2017 359j4546
- Am I ready for CRISPR? A user's guide to genetic screens.
Doench John G et al. Nature reviews. Genetics 2017 Dec
- Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.
Beunders Gea et al. European journal of medical genetics 2017 Nov
- Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.
Brown Shelby et al. Journal of genetic counseling 2017 Dec
- Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication.
Williams Janet L et al. Journal of genetic counseling 2017 Dec
- Implementing a Virtual Health Telemedicine Program in a Community Setting.
Weissman Scott M et al. Journal of genetic counseling 2017 Dec
- Controlling futures? Online Genetic Testing and Neurodegenerative Disease : Comment on "Personal Genomic Testing, Genetic Inheritance, and Uncertainty".
Warren Narelle et al. Journal of bioethical inquiry 2017 Dec 14(4) 593-594
- The rise of the genome and personalised medicine.
Brittain Helen K et al. Clinical medicine (London, England) 2017 Dec 17(6) 545-551
- The Scope of Big Data in One Medicine: Unprecedented Opportunities and Challenges.
McCue Molly E et al. Frontiers in veterinary science 2017 4194
- Prioritzsing the application of genomic medicine
B Doble et al, npj Genomic Medicine, Nov 2017
- A Google map for healthcare,
by Steven Ross Johnson, Modern Healthcare, December 2, 2017
- [Genetics and family medicine].
Bugarín-González R et al. Semergen 2017 Nov
- The ESMO Precision Medicine Glossary.
Jørgensen Jan Trøst et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Nov
- Computer-aided biomarker discovery for precision medicine: data resources, models and applications.
Lin Yuxin et al. Briefings in bioinformatics 2017 Nov
Heart, Lung, Blood and Sleep Diseases
- Familial hypercholesterolaemia: identification and management,
NICE, November 2017
- Guideline of the month - managing risk in FH,
Pulse Today, November 30, 2017
- Closing In on Treatment for Hemophilia B.
Porteus Matthew et al. The New England journal of medicine 2017 Dec 377(23) 2274-2275
- Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant.
George Lindsey A et al. The New England journal of medicine 2017 Dec 377(23) 2215-2227
- Hereditary Thrombophilia in Trauma Patients with Venous Thromboembolism: Is Routine Screening Necessary?
Cannon Kathleen A et al. The journal of trauma and acute care surgery 2017 Nov
- Racial, sex disparities persist in familial hypercholesterolemia
SM Amrock, Atherosclerosis, Nov 2017
- European Respiratory Society statement: diagnosis and treatment of pulmonary disease in ?1-antitrypsin deficiency.
Miravitlles Marc et al. The European respiratory journal 2017 Nov 50(5)
- Genetic studies as a tool for identifying novel potential targets for treatment of COPD.
Manichaikul Ani et al. The European respiratory journal 2017 Nov 50(5)
- Genome Editing: The Recent History and Perspective in Cardiovascular Diseases.
Musunuru Kiran et al. Journal of the American College of Cardiology 2017 Dec 70(22) 2808-2821
- Sudden Cardiac Arrest During Competitive Sports
American College of Cardiology, Nov 30, 2017
- Genetic Testing in Pediatric Cardiomyopathy.
Ellepola Chalani D et al. Pediatric cardiology 2017 Nov
- Key Findings: Study Finds Infant Cardiac Deaths Have Declined in States that Mandate Screening for Critical Congenital Heart Disease
- The Success of State Newborn Screening Policies for Critical Congenital Heart Disease
Kemper Alex R et al. JAMA 2017 Dec 318(21) 2087-2088
- Determinants of caregivers' awareness of Universal Newborn Hearing Screening in Malaysia.
Abdul Majid Abdul Halim et al. International journal of pediatric otorhinolaryngology 2017 Oct 101107-111
- Reappraising newborn screening for cobalamin C disorder.
Tocan Vlad et al. Pediatrics and neonatology 2017 Nov
- Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?
Al Aqeel Aida I et al. Journal of paediatrics and child health 2017 Dec 53(12) 1242
- Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
Giguère Yves et al. Advances in experimental medicine and biology 2017 959139-146
- Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.
Abouk Rahi et al. JAMA 2017 Dec 318(21) 2111-2118
- Population pharmacogenomics: impact on public health and drug development.
Patrinos George P et al. Pharmacogenomics 2017 Dec
- Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.
Borobia Alberto M et al. Clinical and translational science 2017 Nov
- PharmCAT: A Pharmacogenomics Clinical Annotation Tool.
Klein Teri E et al. Clinical pharmacology and therapeutics 2017 Dec
- A New Zealand platform to enable genetic investigation of adverse drug reactions.
Maggo Simran Ds et al. The New Zealand medical journal 2017 Dec 130(1466) 62-69
- [Implementation and Evaluation of Genetic Testing Seminars about Lifestyle-related Disease Prevention in Pharmacy Insurance-The Need for Cooperation between the Pharmacy and the University in Genetic Testing].
Ikeda Kayo et al. Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan 2017 137(12) 1517-1531
- Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases.
Tavakolpour S et al. Clinical genetics 2017 Nov
- Dealing with treatment and transfer requests: how PGD-professionals discuss ethical challenges arising in everyday practice.
Soto-Lafontaine Melisa et al. Medicine, health care, and philosophy 2017 Oct
- Non-invasive prenatal testing.
Harraway James et al. Australian family physician 2017 Oct 46(10) 735-739
- Decisions about aneuploidy screening: why women's reasons are important.
Petrova Dafina et al. BJOG : an international journal of obstetrics and gynaecology 2017 Nov
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications.
Harper J C et al. European journal of human genetics : EJHG 2017 Dec
- National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in the period 1973-2016 in Denmark.
Lou Stina et al. Acta obstetricia et gynecologica Scandinavica 2017 Dec
- Fertility preservation in women harboring deleterious BRCA mutations: ready for prime time?
Peccatori Fedro Alessandro et al. Human reproduction (Oxford, England) 2017 Dec 1-7
- Family planning decisions for parents of children with a rare genetic condition: A scoping review.
Gee Melanie et al. Sexual & reproductive healthcare : official journal of the Swedish Association of Midwives 2017 Dec 141-6
- Prenatal reflex DNA screening for trisomies 21, 18, and 13.
Wald Nicholas J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov
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.
Genomics & Health Impact Scan Database|Weekly Scan|PHGKB
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