Publication Date: Nov 30, 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
- Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy
F Collins, NIH Director's blog, Nov 21, 2017 - Health of people with cystic fibrosis shows positive trends in US and Canada
Check Orphan, Nov 22, 2017 - Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Riera Marina et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 709-719 - Gene Therapy Shows Promise For A Growing List Of Diseases
R Stein, NPR, Nov 29, 2017 - Evidence-based practices on reducing transfusion complications in sickle cell disease
Provider Training Video Series, Georgia Health Policy Center, 2017 - Gene Therapy Hits a Peculiar Roadblock: A Virus Shortage
G Kolata, NY Times, Nov 27, 2017 - Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.
Xiao Bing et al. American journal of medical genetics. Part A 2017 Nov - Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Hayeems Robin Z et al. European journal of human genetics : EJHG 2017 Nov - DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.
Blau Nenad et al. Molecular genetics and metabolism 2017 Nov - The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller Hanns et al. European journal of human genetics : EJHG 2017 Nov - Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.
Sánchez-Jimeno C et al. Actas dermo-sifiliograficas 2017 Nov - A Universal Approach to Correct Various HBB Gene Mutations in Human Stem Cells for Gene Therapy of Beta-Thalassemia and Sickle Cell Disease.
Cai Liuhong et al. Stem cells translational medicine 2017 Nov - Living with a rare disorder: a systematic review of the qualitative literature.
von der Lippe Charlotte et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 758-773 - [A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital].
Lafuente-Hidalgo M et al. Revista de neurologia 2017 Dec 65(11) 496-502 - Common risk variants identified in autism spectrum disorder
J Grove et al, BioRXIV, Nov 25, 2017 - Elevated polygenic burden for autism is associated with differential DNA methylation at birth.
E Hannon et al, BioRXIV, Nov 26, 2017
Cancer
- OMICS, Oral Cancer Molecular Landscapes, and Clinical Practice.
D'Souza Wendy et al. Omics : a journal of integrative biology 2017 Nov - Breast Cancer Risk Assessment Using the Gail Model and It’s Predictors in Saudi Women
Al Otaibi Hala Hazam et al. Asian Pacific journal of cancer prevention : APJCP 2017 18(11) 2971-2975 - The Utilization of Karyotyping, iFISH, and MLPA for the Detection of Recurrence Genetic Aberrations in Multiple Myeloma
Sommaluan Suchada et al. Asian Pacific journal of cancer prevention : APJCP 2017 18(11) 3135-3142 - Steps forward for cancer precision medicine.
Salgado Roberto et al. Nature reviews. Drug discovery 2017 Nov - The impact of hereditary cancer gene panels on clinical care and lessons learned.
Okur Volkan et al. Cold Spring Harbor molecular case studies 2017 Nov 3(6) - Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry.
Laurino Mercy Y et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 700-708 - Clinical Utility of CLIA-Grade AR-V7 Testing in Patients With Metastatic Castration-Resistant Prostate Cancer.
Markowski Mark C et al. JCO precision oncology 2017 2017 - Clinical relevance of molecular diagnostics in gastrointestinal (GI) cancer: European Society of Digestive Oncology (ESDO) expert discussion and recommendations from the 17th European Society for Medical Oncology (ESMO)/World Congress on Gastrointestinal Cancer, Barcelona.
Baraniskin Alexander et al. European journal of cancer (Oxford, England : 1990) 2017 Nov 86305-317 - Risk-reducing salpingo-oophorectomy in BRCA1 and BRCA2 mutated patients: An evidence-based approach on what women should know.
De Felice F et al. Cancer treatment reviews 2017 Dec 611-5 - A glycolysis-based ten-gene signature correlates with the clinical outcome, molecular subtype and IDH1 mutation in glioblastoma.
Chen Cong et al. Journal of genetics and genomics = Yi chuan xue bao 2017 Sep - Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.
Hovelson Daniel H et al. Oncotarget 2017 Oct 8(52) 89848-89866 - Identification of lung adenocarcinoma specific dysregulated genes with diagnostic and prognostic value across 27 TCGA cancer types.
Shang Jun et al. Oncotarget 2017 Oct 8(50) 87292-87306 - Identification of potential tissue-specific cancer biomarkers and development of cancer versus normal genomic classifiers.
Mohammed Akram et al. Oncotarget 2017 Oct 8(49) 85692-85715 - Breast cancer genetics in young women: What do we know?
Gómez-Flores-Ramos Liliana et al. Mutation research 2017 Oct 77433-45 - Next-generation Sequencing-based genomic profiling: Fostering innovation in cancer care?
Fernandes Gustavo S et al. Clinics (Sao Paulo, Brazil) 2017 Oct 72(10) 588-594 - Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Arai Masami et al. Journal of human genetics 2017 Nov - Systematic review of the clinical and economic value of gene expression profiles for invasive early breast cancer available in Europe.
Blok E J et al. Cancer treatment reviews 2017 Nov 6274-90 - [A survey of willingness about genetic counseling and tests in patients of epithelial ovarian cancer].
Li L et al. Zhonghua yi xue za zhi 2017 Nov 97(43) 3412-3415 - Revisiting Expectations in an Era of Precision Oncology.
Marchiano Emily J et al. The oncologist 2017 Nov - Enhancing Next-Generation Sequencing-Guided Cancer Care Through Cognitive Computing.
Patel Nirali M et al. The oncologist 2017 Nov - Breast tissue density change after oophorectomy in BRCA mutation carrier patients using visual & volumetric analysis.
Lecler Augustin et al. The British journal of radiology 2017 Nov 20170163 - Utility of single cell genomics in diagnostic evaluation of prostate cancer.
Alexander Joan et al. Cancer research 2017 Nov - Utility of molecular tools for extended adjuvant endocrine therapy decisions in early breast cancer.
Ribnikar Domen et al. Future oncology (London, England) 2017 Nov - Online software spots genetic errors in cancer papers,
by Nicky Phillips, Nature News, November 20, 2017 - The Promise and Challenges of CAR-T Gene Therapy.
Kuehn Bridget M et al. JAMA 2017 Nov - Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.
Augustinsson Annelie et al. Acta oncologica (Stockholm, Sweden) 2017 Nov 1-9 - Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks.
Young Mary-Anne et al. Journal of genetic counseling 2017 Nov - Consequences of testing for mismatch repair deficiency of colorectal cancer in clinical practice.
Leicher L W et al. Scandinavian journal of gastroenterology 2017 Nov 1-5 - Clinician-Stakeholders' Perspectives on Using Patient Portals to Return Lynch Syndrome Screening Results.
Korngiebel Diane M et al. Journal of genetic counseling 2017 Nov - BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.
Nilsson Martin P et al. Breast cancer research and treatment 2017 Nov - Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study.
Godino Lea et al. European journal of human genetics : EJHG 2017 Nov - Clinical Aspects of SDHA-related Pheochromocytoma and Paraganglioma; a Nationwide Study.
van der Tuin Karin et al. The Journal of clinical endocrinology and metabolism 2017 Nov - LinkedOmics: analyzing multi-omics data within and across 32 cancer types.
Vasaikar Suhas V et al. Nucleic acids research 2017 Nov - Treatment Patterns and Outcomes in Patients with KRAS Wild-Type Metastatic Colorectal Cancer Treated in First Line with Bevacizumab- or Cetuximab-Containing Regimens.
Houts Arthur C et al. Journal of gastrointestinal cancer 2017 Nov - Quantitative Mass Spectrometry-Based Proteomic Profiling for Precision Medicine in Prostate Cancer.
Flores-Morales Amilcar et al. Frontiers in oncology 2017 7267 - Identification and validation of potential prognostic gene biomarkers for predicting survival in patients with acute myeloid leukemia.
Huang Rui et al. OncoTargets and therapy 2017 105243-5254 - A 16-gene signature predicting prognosis of patients with oral tongue squamous cell carcinoma.
Qiu Zeting et al. PeerJ 2017 5e4062 - BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
Alemar Bárbara et al. PloS one 2017 12(11) e0187630 - Impact of multi-gene mutational profiling on clinical trial outcomes in metastatic breast cancer.
Pezo Rossanna C et al. Breast cancer research and treatment 2017 Nov - Clinicopathological characteristics of patients with upper urinary tract urothelial cancer with loss of immunohistochemical expression of the DNA mismatch repair proteins in universal screening.
Urakami Shinji et al. International journal of urology : official journal of the Japanese Urological Association 2017 Nov - The roles of pathology in targeted therapy of women with gynecologic cancers.
Murali Rajmohan et al. Gynecologic oncology 2017 Nov - Integrating clinicopathologic and genomic tools in chemotherapy decision-making for early stage breast cancer.
Havard Robert et al. Future oncology (London, England) 2017 Nov - Signature Celebration of Gastroenterology, Colorectal Cancer.
Chan Andrew T et al. Gastroenterology 2017 Nov - "Where Does it Come from?" Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya.
Gedleh Amal et al. Journal of genetic counseling 2017 Nov - Comprehensive Next-Generation Sequencing Analysis is Recommended for the Management of Patients With Melanoma.
Yao Keluo et al. Applied immunohistochemistry & molecular morphology : AIMM 2017 Nov - Additional Recommendations for ALK Gene-Rearranged Non-Small-Cell Lung Cancer to the Recently Updated American Society of Clinical Oncology Guideline for Stage IV Non-Small-Cell Lung Cancer.
Van Hoef Marlies E H M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Nov JCO2017758367 - Molecular Genomic Testing for Breast Cancer: Utility for Surgeons.
Fayanju Oluwadamilola M et al. Annals of surgical oncology 2017 Nov - BRAF V600E Mutation-Assisted Risk Stratification of Solitary Intrathyroidal Papillary Thyroid Cancer for Precision Treatment.
Huang Yueye et al. Journal of the National Cancer Institute 2017 Nov - Clinical performance of a next-generation sequencing assay (ThyroSeq v2) in the evaluation of indeterminate thyroid nodules.
Taye Aida et al. Surgery 2017 Nov
Chronic Disease
- Alzheimer's Disease Fact Sheet
Risk factors for Alzheimer's disease include genetics and family history - Genetic variation of habitual coffee consumption and glycemic changes in response to weight-loss diet intervention: the Preventing Overweight Using Novel Dietary Strategies (POUNDS LOST) trial.
Han Liyuan et al. The American journal of clinical nutrition 2017 Nov 106(5) 1321-1326 - Development and validation of QDiabetes-2018 risk prediction algorithm to estimate future risk of type 2 diabetes: cohort study.
Hippisley-Cox Julia et al. BMJ (Clinical research ed.) 2017 Nov 359j5019 - Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?
Preston Rebecca et al. Pediatric nephrology (Berlin, Germany) 2017 Nov - Genetic and Syndromic Causes of Obesity and its Management.
Koves Ildiko H et al. Indian journal of pediatrics 2017 Nov
Ethical, Legal and Social Issues (ELSI)
- For Greater Diversity,
Genome Web, November 27, 2017 - Direct to consumer genetic testing-law and policy concerns in Ireland.
de Paor Aisling et al. Irish journal of medical science 2017 Nov - First-In-Human Phase 1 CRISPR Gene Editing Cancer Trials: Are We Ready?
Baylis Francoise et al. Current gene therapy 2017 Nov - Improved ethical guidance for the return of results from psychiatric genomics research.
Lázaro-Muñoz G et al. Molecular psychiatry 2017 Nov - FDA treads carefully on molecular diagnostics,
by Josh Baxt, MedCity News, November 21, 2017 - Physicians' duty to recontact and update genetic advice.
Stevens Yvonne A et al. Personalized medicine 2017 14(4) 367-374 - Psychosocial issues of a population approach to high genetic risk identification: Behavioural, emotional and informed choice issues.
French David P et al. Breast (Edinburgh, Scotland) 2017 Nov 37148-153 - Reconciling ethical and economic conceptions of value in health policy using the capabilities approach: A qualitative investigation of Non-Invasive Prenatal Testing.
Kibel Mia et al. Social science & medicine (1982) 2017 Nov 19597-104
Practice
- Big data often yields small returns. Here’s how to fix that
MJ Pencina, StatNews, Nov 29, 2017 - Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Christie Kathleen A et al. Scientific reports 2017 Nov 7(1) 16174 - Genome Culture: Welcoming in a New Era of Direct-to-Consumer Genetic Testing
L Hercher, Genome Magazine, Nov 24, 2017 - The influence of big (clinical) data and genomics on precision medicine and drug development.
Denny Joshua C et al. Clinical pharmacology and therapeutics 2017 Nov - Interest in Genetic Testing Brings Precision Medicine Challenges
J Bresnick, Health IT Analytics, Nov 27, 2017 - Genetic research diversifies beyond Europeans
C Ho, San Francisco Chronicle, Nov 26, 2017 - Validating a research ethnicity questionnaire using genomic markers.
Hettige Nuwan C et al. Pharmacogenomics 2017 Nov - Advancing Global Precision Medicine: An Overview of Genomic Testing and Counseling Services in Malaysia.
Balasopoulou Angeliki et al. Omics : a journal of integrative biology 2017 Nov - The Promise & Peril in YOUR Genes
RC Green, Nov 2017 - Mainstreaming genetics in palliative care: barriers and suggestions for clinical genetic services.
Dearing A et al. Journal of community genetics 2017 Nov - Precision Medicine from a Public Health Perspective.
Ramaswami Ramya et al. Annual review of public health 2017 Nov - ClinVar: improving access to variant interpretations and supporting evidence.
Landrum Melissa J et al. Nucleic acids research 2017 Nov - Reflecting Before Testing : Comment on "Personal Genomic Testing, Genetic Inheritance, and Uncertainty".
Savard Jacqueline et al. Journal of bioethical inquiry 2017 Nov - Knowledge for Precision Medicine: Mechanistic Reasoning and Methodological Pluralism.
Tonelli Mark R et al. JAMA 2017 318(17) 1649-1650 - Surviving With Smog and Smoke: Precision Interventions?
Cai Hua et al. Chest 2017 Nov 152(5) 925-929 - Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.
Wynn Julia et al. Journal of genetic counseling 2017 Nov - Interest in Genetic Testing Brings Precision Medicine Challenges,
by Jennifer Bresnick, HealthIT Analytics, November 27, 2017 - The Promise, Growth, and Reality of Mobile Health - Another Data-free Zone.
Roess Amira et al. The New England journal of medicine 2017 Nov 377(21) 2010-2011 - A Debate: Argument in Support of Personalized and Digital Medicine is the Answer
R Roberts, Am College of Cardiology, Nov 20, 2017 - Physician interpretation of genomic test results and treatment selection.
Brusco Lauren L et al. Cancer 2017 Nov - Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services.
De Castro Mauricio J et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 617-620 - Precision Medicine: A Second Opinion
MJ Joyner, Am College of Cardiology, Nov 20, 2017 - Critical Care and Personalized or Precision Medicine: Who needs whom?
Sugeir Shihab et al. Journal of critical care 2017 Nov
Heart, Lung, Blood and Sleep Diseases
- The development and implementation of stroke risk prediction model in National Health Insurance Service's personal health record.
Lee Jae-Woo et al. Computer methods and programs in biomedicine 2018 Jan 153253-257 - Tracing the genetic etiology of cardiovascular disease using a hierarchy of common genetic variants derived from patient subgroups stratified by differential levels in severity
SN Fatakia, BioRXIV, Nov 24, 2017 - Reverse cascade screening for familial hypercholesterolemia in high-risk Chinese families.
Wu Xue et al. Clinical cardiology 2017 Nov - Sudden Cardiac Death in Genetic Cardiomyopathies.
Atteya Gourg et al. Cardiac electrophysiology clinics 2017 Dec 9(4) 581-603 - The accessibility and utilization of genetic testing for inherited heart rhythm disorders: a Canadian cross-sectional survey study.
Roston Thomas M et al. Journal of community genetics 2017 Nov - Communication of Genetic Information to Families with Inherited Rhythm Disorders.
Burns Charlotte et al. Heart rhythm 2017 Nov - A Daughter's Diagnosis, A Mother's Wake-up Call: She knew cholesterol was a family problem, but didn’t take it seriously until it affected her daughter.
J Caswell, Heart Insight, Nov 2017 - Analytical performance of Envisia: a genomic classifier for usual interstitial pneumonia.
Choi Yoonha et al. BMC pulmonary medicine 2017 Nov 17(1) 141 - Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications.
Girolami Francesca et al. Journal of cardiovascular medicine (Hagerstown, Md.) 2017 Nov
Newborn Screening
- Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.
Boardman Felicity K et al. Molecular genetics & genomic medicine 2017 Nov - A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay.
Thakar Monica S et al. Frontiers in immunology 2017 81470 - Analysis of MicroRNA Expression in Newborns with Differential Birth Weight Using Newborn Screening Cards.
Rodil-Garcia Patricia et al. International journal of molecular sciences 2017 Nov 18(12) - Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017 Nov - The Dreadful Knowledge of Truth: Newborn Screening in the Modern Age.
Roach E Steve et al. Pediatric neurology 2017 Dec 773-4 - First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
Rechavi Erez et al. Frontiers in immunology 2017 81448 - Pancreatic Enzyme Replacement Therapy use in infants with Cystic Fibrosis Diagnosed by Newborn Screening.
Gelfond Daniel et al. Journal of pediatric gastroenterology and nutrition 2017 Nov
Pharmacogenomics
- Pharmacogenetic study of the impact of ABCB1 single-nucleotide polymorphisms on lenalidomide treatment outcomes in patients with multiple myeloma: results from a phase IV observational study and subsequent phase II clinical trial.
Jakobsen Falk Ingrid et al. Cancer chemotherapy and pharmacology 2017 Nov - Cost-effectiveness analysis of HLA-B*58: 01 genetic testing before initiation of allopurinol therapy to prevent allopurinol-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in a Malaysian population.
Chong Huey Yi et al. Pharmacogenetics and genomics 2017 Nov - SLC6A3 polymorphism and response to methylphenidate in children with ADHD: A systematic review and meta-analysis.
Soleimani Robabeh et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Nov - Clinical pharmacogenomics: patient perspectives of pharmacogenomic testing and the incidence of actionable test results in a chronic disease cohort.
Mukherjee Chandrama et al. Personalized medicine 2017 Sep 14(5) 383-388
Reproductive Health
- [Analysis of non-invasive prenatal screening detection in fetal chromosome aneuploidy].
Cai A J et al. Zhonghua fu chan ke za zhi 2017 Nov 52(11) 765-769 - Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.
Shraga Roman et al. BMC genetics 2017 Nov 18(1) 99 - Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.
Regier Debra S et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 621-630
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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