Publication Date: Jan 11, 2018
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
- Safe Sleep for Babies
CDC Vital Signs, Jan 9, 2018 - About 3,500 babies in the US are lost to sleep-related deaths each year
CDC News Release, Jan 9, 2018 - Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto Lucio et al. The New England journal of medicine 2018 Jan 378(1) 60-71 - Systematic review of the clinical manifestations of glucose-6-phosphate dehydrogenase deficiency in the Greater Mekong Subregion: implications for malaria elimination and beyond.
Ong Ken Ing Cherng et al. BMJ global health 2017 2(3) e000415 - Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review.
Ouattara Abdoul Karim et al. BMC medical genetics 2017 18(1) 139 - MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.
Yu Di et al. Italian journal of pediatrics 2017 Dec 43(1) 108 - The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Dragojlovic Nick et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - The CSER Program: Tiana's Story
Hudson Alpha, Vimeo, 2018 - Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski Ivan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
Cancer
- Ohio Mom, 27, Diagnosed with Breast Cancer Months After Giving Birth Speaks Out: 'Be Proactive'
msn lifestyle, Jan 4, 2018 - How Genetic Testing Guided My Breast Cancer Journey – To Eschewing Beef
R Lewis, PLOS Blogs, Jan 11, 2018 - The clinical implications of immunogenomics in colorectal cancer: A path for precision medicine.
Riley Jenny M et al. Cancer 2018 Jan - The impact of patient age on breast cancer risk prediction models.
Coopey Suzanne B et al. The breast journal 2018 Jan - Prophylactic mastectomy for BRCA mutation carriers after ovarian cancer treatment: is it beneficial?
Kotsopoulos Joanne et al. Expert review of anticancer therapy 2018 Jan 1-2 - Factors influencing the decision to share cancer genetic results among family members: an in-depth interview study of women in an Asian setting.
Li Shao-Tzu et al. Psycho-oncology 2018 Jan - Real-world utilization of molecular diagnostic testing and matched drug therapies in the treatment of metastatic cancers.
Chawla Anita et al. Journal of medical economics 2018 Jan 1-21 - Diagnostic Utility of Molecular and Imaging Biomarkers in Cytological Indeterminate Thyroid Nodules.
de Koster Elizabeth J et al. Endocrine reviews 2018 Jan - Markers of clinical utility in the differential diagnosis and prognosis of prostate cancer.
Kristiansen Glen et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Jan 31(S1) S143-155 - Introduction to the Yale Precision Medicine Tumor Board.
Cecchini Michael et al. The Lancet. Oncology 2018 Jan 19(1) 19-20 - Yale Cancer Center Precision Medicine Tumor Board: two patients, one targeted therapy, different outcomes.
Cecchini Michael et al. The Lancet. Oncology 2018 Jan 19(1) 23-24 - Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
Gardner Sabrina A et al. Hereditary cancer in clinical practice 2018 161 - Opportunities and Challenges in Genomic Sequencing for Precision Cancer Care.
Cheng Michael L et al. Annals of internal medicine 2018 Jan - Immune-Related Adverse Events Associated with Immune Checkpoint Blockade.
Postow Michael A et al. The New England journal of medicine 2018 Jan 378(2) 158-168 - Putative biomarkers for cervical cancer: SNVs, methylation and expression profiles.
Cardoso Maria de Fátima Senra et al. Mutation research 2017 Jul 773161-173 - Association of Cell-Free DNA Tumor Fraction and Somatic Copy Number Alterations With Survival in Metastatic Triple-Negative Breast Cancer.
Stover Daniel G et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017760033 - Pancreatic cancer screening in high-risk individuals with germline genetic mutations.
DaVee Tomas et al. Gastrointestinal endoscopy 2018 Jan - Genetic susceptibility in cervical cancer: From bench to bedside.
Bahrami Afsane et al. Journal of cellular physiology 2018 Mar 233(3) 1929-1939 - The use of automated Ki67 analysis to predict Oncotype DX risk-of-recurrence categories in early-stage breast cancer.
Thakur Satbir Singh et al. PloS one 2018 13(1) e0188983 - Clinical Impact of 21-Gene Recurrence Score Test Within the Veterans Health Administration: Utilization and Receipt of Guideline-Concordant Care.
Hull Leland E et al. Clinical breast cancer 2017 Nov - Prognostic impact of a novel gene expression profile classifier for the discrimination between metastatic and non-metastatic primary colorectal cancer tumors.
Gutiérrez María Laura et al. Oncotarget 2017 Dec 8(64) 107685-107700 - Interactive or static reports to guide clinical interpretation of cancer genomics.
Gray Stacy W et al. Journal of the American Medical Informatics Association : JAMIA 2018 Jan - Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts
TM Siebert et al, BMJ, Jan 10, 2017 - Cost Effectiveness of Gene Expression Profile Testing in Community Practice.
Chandler Young et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017745034 - Trends of genetic screening in patients with pheochromocytoma and paraganglioma: 15-year experience in a high-volume tertiary referral center.
Asban Ammar et al. Journal of surgical oncology 2018 Jan - Pediatric oncologist willingness to offer germline TP53 testing in osteosarcoma.
Shaul Eliana et al. Cancer 2018 Jan - Experts Forecast Cancer Research and Treatment Advances in 2018
S Ravoori, AACR Blog, Jan 3, 2018 - Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Mikropoulos Christos et al. British journal of cancer 2018 Jan - A nationwide registry-based cohort study of the MammaPrint genomic risk classifier in invasive breast cancer.
Groenendijk Floris H et al. Breast (Edinburgh, Scotland) 2018 Jan 38125-131 - Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers.
Tuffaha Haitham W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Changes in classification of genetic variants in BRCA1 and BRCA2.
Kast Karin et al. Archives of gynecology and obstetrics 2018 Jan - Gene mutations in stool from gastric and colorectal neoplasia patients by next-generation sequencing.
Youssef Omar et al. World journal of gastroenterology 2017 Dec 23(47) 8291-8299 - Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations.
Choi Su-Hye et al. Genomics & informatics 2017 Dec 15(4) 136-141 - Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.
Marks Lianna J et al. Frontiers in pediatrics 2017 5265 - Clinical Impact of Genomic Information in Pediatric Leukemia.
Lalonde Emilie et al. Frontiers in pediatrics 2017 5263 - Aging and the rise of somatic cancer-associated mutations in normal tissues.
Risques Rosa Ana et al. PLoS genetics 2018 Jan 14(1) e1007108 - Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations.
Di Marco Marco et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
Chronic Disease
- Improving adherence to healthy dietary patterns, genetic risk, and long term weight gain: gene-diet interaction analysis in two prospective cohort studies
T Wang et al, BMJ, Jan 10, 2018 - Genetic testing as a supporting tool in prescribing psychiatric medication: Design and protocol of the IMPACT study.
Herbert Deanna et al. Journal of psychiatric research 2017 Sep - Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova Oksana et al. Neuromuscular disorders : NMD 2017 Nov - Six-Year Diabetes Incidence After Genetic Risk Testing and Counseling: A Randomized Clinical Trial.
Vassy Jason L et al. Diabetes care 2018 Jan - Genomic medicine for kidney disease.
Groopman Emily E et al. Nature reviews. Nephrology 2018 Jan - Diet, genes, and obesity
L Ells, BMJ editorial, Jan 10, 2018 - MEFV gene testing may guide physicians for early diagnosis of familial Mediterranean fever.
Tezcan Mehmet E et al. International journal of rheumatic diseases 2018 Jan - Preparing the Way: Exploiting Genomic Medicine to Stop Smoking.
Bierut Laura J et al. Trends in molecular medicine 2018 Jan - Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer Elizabeth E et al. Molecular genetics & genomic medicine 2018 Jan - The Human Pain Genetics Database (HPGDB): a resource dedicated to human pain genetics research.
Meloto Carolina B et al. Pain 2017 Dec - Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.
Newey Paul J et al. Journal of the Endocrine Society 2017 Dec 1(12) 1507-1526
Ethical, Legal and Social Issues (ELSI)
- Warn patients about privacy issues associated with genetic testing.
Reddy Sumana et al. Family practice management 25(1) 34 - Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.
Fossey Robyn et al. Journal of personalized medicine 2018 Jan 8(1) - Accessing your own genomic data is a civil right but requires strategies to manage safety
Medical XPress, Jan 4, 2018 - HIPAA's Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights.
Evans Barbara J et al. American journal of human genetics 2018 Jan 102(1) 5-10 - Disabled by Design: Justifying and Limiting Parental Authority to Choose Future Children with Pre-Implantation Genetic Diagnosis.
Stramondo Joseph et al. Kennedy Institute of Ethics journal 2017 27(4) 475-500 - Human gene editing: revisiting Canadian policy.
Knoppers Bartha Maria et al. NPJ Regenerative medicine 2017 23
General Practice
- Generalizing Genetic Risk Scores from Europeans to Hispanics/Latinos
KE Grinde et al, BioRXIV preprints, Jan 4, 2018 - Perspectives in Primary Care: Knowing the Patient as a Person in the Precision Medicine Era.
Ziegelstein Roy C et al. Annals of family medicine 2018 Jan 16(1) 4-5 - Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing.
Allyse Megan A et al. Mayo Clinic proceedings 2018 Jan 93(1) 113-120 - ChronQC: A Quality Control Monitoring System for Clinical Next Generation Sequencing.
Tawari Nilesh R et al. Bioinformatics (Oxford, England) 2017 Dec - System Development Aiming Efficient Recording of Pedigree Information and Database Construction for Genetic Counseling Clinic.
Nagasawa Takuya et al. Studies in health technology and informatics 2017 2451278 - Consumer Health Informatics Aspects of Direct-to-Consumer Personal Genomic Testing.
Gray Kathleen et al. Studies in health technology and informatics 2017 24589-93 - Epigenetics: A way to bridge the gap between biological fields.
Nicoglou Antonine et al. Studies in history and philosophy of biological and biomedical sciences 2017 Dec 6673-82 - Representing a "revolution": how the popular press has portrayed personalized medicine.
Marcon Alessandro R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - How the immune system could stymie some CRISPR gene therapies
H Ledford, Nature, Jan 9, 2018 - 500,000 Britons' Genomes Will Be Public by 2020, Transforming Drug Research
A Regalado, Tech Review, Jan 9, 2018 - Using Biology Education Research and Qualitative Inquiry to Inform Genomic Nursing Education.
Ward Linda D et al. Nurse educator 42(6) 303-307 - Genomics in 2018: 3 key predictions
Genomics Education UK, Jan, 2018 - Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Tavtigian Sean V et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project.
Roberts J Scott et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Clinical Decision Support and Primary Care Acceptance of Genomic Medicine.
Chase Dian A et al. Studies in health technology and informatics 2017 245700-703
Heart, Lung, Blood and Sleep Diseases
- The genetics of circadian rhythms, sleep and health.
Jagannath Aarti et al. Human molecular genetics 2017 Oct 26(R2) R128-R138 - Polygenic influences on dyslipidemias.
Dron Jacqueline S et al. Current opinion in lipidology 2018 Jan - Treatment goal attainment in children with familial hypercholesterolemia: A cohort study of 302 children in Norway.
Bogsrud Martin P et al. Journal of clinical lipidology 2017 Dec - Standard measures for sickle cell disease research: the PhenX Toolkit sickle cell disease collections.
Eckman James R et al. Blood advances 2017 Dec 1(27) 2703-2711 - Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease
Sébastien Thériault et al, Circ Cardio Genetics, Jan 2018 - Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation
JB Nielsen et al, BioRXIV, Jan 2018 - Experience of Asian males communicating cardiac genetic risk within the family.
Kam Sylvia et al. Journal of community genetics 2018 Jan - New Test For Early Heart Disease Risk Based on Multiple Genetic Differences,
by Kenny Walter, R and D Magazine, January 8, 2018 - Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.
Fonseca Paula Fernanda Silva et al. BMC medical genetics 2018 Jan 19(1) 3 - To sleep or not: Researchers explore complex genetic network behind sleep duration
- Lessening the Burden of Familial Hypercholesterolemia Using Health Information Technology.
Safarova Maya S et al. Circulation research 2018 Jan 122(1) 26-27 - Heritability of Atrial Fibrillation.
Weng Lu-Chen et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) - Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly Melissa A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects.
Turan Sifa et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Dec - Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia.
Chou Stella T et al. Blood advances 2017 Aug 1(18) 1414-1422 - The genetics of obstructive sleep apnoea.
Mukherjee Sutapa et al. Respirology (Carlton, Vic.) 2018 Jan 23(1) 18-27
Newborn Screening
- Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples.
AlSaif Saif et al. BMC pediatrics 2017 Jul 17(1) 159
Pharmacogenomics
- Does your DNA hold the key to preventing adverse drug reactions?
Genome BC, 1-hour video presentation - Developing Pharmacogenomic Reports: Insights from Patients and Clinicians.
Jones Laney K et al. Clinical and translational science 2018 Jan - Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.
et al. Clinical pharmacology and therapeutics 2018 Feb 103(2) 349 - Cost-effectiveness of HLA-DQB1/HLA-B pharmacogenetic-guided treatment and blood monitoring in US patients taking clozapine.
Girardin François R et al. The pharmacogenomics journal 2018 Jan - Technical Challenges and Opportunities when Implementing Pharmacogenomics Decision Support Integrated in the Electronic Health Record.
Caraballo Pedro J et al. Studies in health technology and informatics 2017 2451255
Reproductive Health
- Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.
Hayward Jane et al. Seminars in fetal & neonatal medicine 2018 Jan - The impact of third-trimester genetic counseling.
Sharony Reuven et al. Archives of gynecology and obstetrics 2018 Jan - Chromosome Screening Using Noninvasive Prenatal Testing Beyond Trisomy-21: What to Screen for and Why It Matters.
Hens Kristien et al. The Journal of medicine and philosophy 2017 Dec
Reviews/Comments
- Received an at-home DNA test as a holiday gift? Proceed with caution
UCLA Health, January 2018
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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