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
- How do providers discuss the results of pediatric exome sequencing with families?
Walser Sarah A et al. Personalized medicine 2017 Sep 14(5) 409-422 - Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Chaiyasap Pongsathorn et al. BMC medical genetics 2017 Sep 18(1) 102 - Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers.
Peyser Alexandra et al. JBRA assisted reproduction 2017 Oct - Sharon Terry: When Siblings Get A Rare Diagnosis, Can Their Parents Find the Cure?
National Public Radio, Sep 29, 2017 - Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Romasko Edward J et al. American journal of hematology 2017 Sep - Clinical and molecular correlates in fragile X premutation females.
Jiraanont Poonnada et al. eNeurologicalSci 2017 Jun 749-56 - Down Syndrome Awareness Month
NCBDDD, October 2, 2017 - Sickle Cell Disease: What You Should Know
CDC podcast, 2017 - Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.
Gorrie Anita et al. Journal of community genetics 2017 Oct - Genetic Testing in Pediatric Ophthalmology.
Verma Ishwar Chander et al. Indian journal of pediatrics 2017 Oct - The Heritability of Autism Spectrum Disorder
Sandin Sven et al. JAMA 2017 Sep 318(12) 1182-1184 - A Time to Sequence
Baxter Sarah K et al. JAMA pediatrics 2017 Oct e173435 - DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.
van Engelen Kalene et al. Pediatric blood & cancer 2017 Sep
Cancer
- Precision Oncology: Who, How, What, When, and When Not?
Schwartzberg Lee et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Meeting 2017 37160-169 - RAS testing of liquid biopsy correlates with the outcome of metastatic colorectal cancer patients treated with first-line FOLFIRI plus cetuximab in the CAPRI-GOIM trial.
Normanno N et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Aug - Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy.
Saule Claire et al. Journal of the National Cancer Institute 2018 Feb 110(2) - Breast Cancer Awareness: Fast Facts About Breast Cancer
- Immunotherapy Response Predicted by Liquid Biopsy
GEN News Highlight, Oct 2, 2017 - How a genetic mutation made this cancer survivor her own best advocate
BS Finer, The Philadelphia Inquirer, October 2, 2017 - Screening Mammography for Women in Their 40s: The Potential Impact of the American Cancer Society and U.S. Preventive Services Task Force Breast Cancer Screening Recommendations.
Pitman Jenifer A et al. AJR. American journal of roentgenology 2017 Sep 209(3) 697-702 - A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification.
Tognetto Alessia et al. Frontiers in public health 2017 5243 - TP53 mutation does not confer a poor outcome in adult patients with acute lymphoblastic leukemia who are treated with frontline hyper-CVAD-based regimens.
Kanagal-Shamanna Rashmi et al. Cancer 2017 Oct 123(19) 3717-3724 - Cancer DNA in the Circulation: The Liquid Biopsy
Husain Hatim et al. JAMA 2017 Oct 318(13) 1272-1274 - Copy Number Profiling of MammaPrint™ Genes Reveals Association with the Prognosis of Breast Cancer Patients.
Fatima Areej et al. Journal of breast cancer 2017 Sep 20(3) 246-253 - Decision impact and feasibility of different ASCO-recommended biomarkers in early breast cancer: Prospective comparison of molecular marker EndoPredict and protein marker uPA/PAI-1.
Ettl Johannes et al. PloS one 2017 12(9) e0183917 - The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier.
Kim Ju-Yeon et al. Journal of breast cancer 2017 Sep 20(3) 279-285 - Precision Oncology: The Road Ahead.
Senft Daniela et al. Trends in molecular medicine 2017 Sep - These moms have the BRCA gene mutation. Heres how it affects their parenting.
Washington Post, Sep 30, 2017 - Genetic testing in a population-based sample of breast and ovarian cancer survivors from the REACH randomized trial: Cost barriers and moderators of counseling mode.
Steffen Laurie E et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Sep - Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing.
Pal Tuya et al. Southern medical journal 2017 Oct 110(10) 643-648 - Genetic counseling for hereditary cancer: A primer for NPs.
McReynolds Kate et al. The Nurse practitioner 2017 Jul 42(7) 22-28 - Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites.
Digennaro M et al. Hereditary cancer in clinical practice 2017 157 - Clinical utility of emerging liquid biomarkers in advanced prostate cancer.
Vandekerkhove Gillian et al. Cancer genetics 2017 Aug - Final report of the Committee on Gynecologic Oncology, the Japan Society of Obstetrics and Gynecology, on a fact-finding questionnaire on the status of treatment of hereditary breast and ovarian cancer syndrome in Japan.
Satoh Toyomi et al. The journal of obstetrics and gynaecology research 2017 Sep 43(9) 1377-1380 - Comprehensive genomic profiling of lung cancer using a validated panel to explore therapeutic targets in East Asian patients.
Liu Liping et al. Cancer science 2017 Sep - Genetic Testing for Cancer: Beyond BRCA,
Kaylene Ready, Huff Post, September 27, 2017 - Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families.
Vicuña Belinda et al. Journal of community genetics 2017 Oct - The Use of Translational Research Platforms in Clinical and Biomedical Data Exploration.
Skolariki Konstantina et al. Advances in experimental medicine and biology 2017 988301-311
Chronic Disease
- The highly anxious individual presenting for Huntington disease-predictive genetic testing: the psychiatrist's role in assessment and counseling.
Groves Mark et al. Handbook of clinical neurology 2017 14499-105 - The impact of Huntington disease on young people.
Ellison Matthew et al. Handbook of clinical neurology 2017 144179-182 - Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.
Mulhern Maureen et al. Journal of genetic counseling 2017 Sep - Multigene Test a Better Alzheimer's Predictor than APOE E4
Clinical Omics, Sep 26, 2017 - Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.
Bevilacqua Jen et al. Journal of genetics 2017 Sep 96(4) 681-685 - Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes.
Guan Yue et al. Journal of genetic counseling 2017 Sep - Genetic testing for Huntington disease.
Quaid Kimberly A et al. Handbook of clinical neurology 2017 144113-126 - Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.
De Rechter Stéphanie et al. PloS one 2017 12(9) e0185779
Ethics/Policy/Law
- As Consumer DNA Testing Grows, Two States Resist
E Mullin, MIT Tech Review, Sep 28, 2017
Practice
- Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.
Nicol Dianne et al. Genome medicine 2017 Sep 9(1) 85 - A Research Agenda for Communication Scholars in the Precision Medicine Era.
Scherr Courtney L et al. Journal of health communication 2017 Sep 1-10 - Scientific-practical and legal problems of implementation of the personalized medicine.
Bezdieniezhnykh N O et al. Experimental oncology 2017 Sep 39(3) 229-233 - Precision Medicine Is Not Just Genomics: The Right Dose for Every Patient.
Peck Richard et al. Annual review of pharmacology and toxicology 2017 Sep - Personal Genetic Testing Is Here. Do We Need It?
By Anahad O?Connor, New York Times, October 3, 2017 - When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing.
Jamal Leila et al. AJOB empirical bioethics 8(2) 82-88 - Applying Family Analyses to Electronic Health Records to Facilitate Genetic Research.
Huang Xiayuan et al. Bioinformatics (Oxford, England) 2017 Sep - The challenges of the expanded availability of genomic information: an agenda-setting paper.
Borry Pascal et al. Journal of community genetics 2017 Sep - A clinical approach to genetic testing for non-specialists.
Semsarian Christopher et al. BMJ (Clinical research ed.) 2017 Sep 358j4101
Cardiovascular Diseases
- Is ACS in Young Patients a "Canary in the Coal Mine" for Familial Hypercholesterolemia?
Knowles Joshua W et al. Journal of the American College of Cardiology 2017 Oct 70(14) 1741-1743 - Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo Angela et al. Atherosclerosis. Supplements 2017 Oct 2917-24 - Genetic Risk Stratification and Prevention of CAD: An Idea Whose Time Is Now.
Roberts Robert et al. Clinical chemistry 2017 Sep - Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
Jiménez-Jáimez Juan et al. Revista espanola de cardiologia (English ed.) 2017 Oct 70(10) 808-816 - Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome
Amor-Salamanca Almudena et al. Journal of the American College of Cardiology 2017 Oct 70(14) 1732-1740 - Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN).
Averna Maurizio et al. Atherosclerosis. Supplements 2017 Oct 2911-16 - Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Fedida Joel et al. PloS one 2017 12(8) e0181840 - Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.
Scicali R et al. Nutrition, metabolism, and cardiovascular diseases : NMCD 2017 Jul - Detection of familial hypercholesterolemia in patients from a general practice database.
Casula Manuela et al. Atherosclerosis. Supplements 2017 Oct 2925-30
Newborn Screening
- Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
Lilleväli Hardo et al. JIMD reports 2017 Sep - Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Porta Francesco et al. Molecular genetics and metabolism reports 2017 Dec 1380-82 - Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng Linyan et al. JAMA pediatrics 2017 Oct e173438
Pharmacogenomics
- Misleading Guidance From Pharmacogenomic Testing.
Rahman Tahir et al. The American journal of psychiatry 2017 Oct 174(10) 922-924 - Simplifying the Use of Pharmacogenomics in Clinical Practice: Building the Genomic Prescribing System.
Danahey Keith et al. Journal of biomedical informatics 2017 Sep - Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial.
Gage Brian F et al. JAMA 2017 Sep 318(12) 1115-1124 - Knowledge, Attitude, and Perceptions of Pharmacists and Pharmacy Students towards Pharmacogenomics in Zimbabwe.
Muzoriana Nyasha et al. Pharmacy (Basel, Switzerland) 2017 Jun 5(3) - Tackling the Opioid Crisis: Genetic testing to identify addiction risk,
by Anna MacDonald, Technology Networks, October 3, 2017 - The Challenges of Implementing Pharmacogenomic Testing in the Clinic.
Moyer Ann M et al. Expert review of pharmacoeconomics & outcomes research 2017 Sep - Genome Sequence Variability Predicts Drug Precautions and Withdrawals from the Market.
Lee Kye Hwa et al. PloS one 11(9) e0162135 - Pharmacogenomic Testing and Warfarin: What Evidence Has the GIFT Trial Provided?
Emery Jon D et al. JAMA 2017 Sep 318(12) 1110-1112 - Cost effectiveness analysis of HLA-B*58:01 genotyping prior to initiation of allopurinol for gout.
Plumpton Catrin O et al. Rheumatology (Oxford, England) 2017 Oct 56(10) 1729-1739
Reproductive Health
- Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.
Ghiossi Caroline E et al. Journal of genetic counseling 2017 Sep - Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism.
Bayefsky Michelle J et al. Reproductive biomedicine & society online 2016 Dec 341-47
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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