Publication Date: May 17, 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
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.
Smith Hadley Stevens et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 May - Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes.
Modell Vicki et al. Immunologic research 2018 May - Holoprosencephaly: A clinical genomics perspective.
Solomon Benjamin D et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 May - A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Howell Katherine B et al. Epilepsia 2018 May - Epidemiology of orofacial clefts in a Danish county over 35 years - Before and after implementation of a prenatal screening programme for congenital anomalies.
Paaske Eva Berenth et al. European journal of medical genetics 2018 May - Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital.
Fallah Shahrzad et al. Iranian journal of allergy, asthma, and immunology 2018 Apr 17(2) 201-207 - An Update on Common Chromosome Microdeletion and Microduplication Syndromes.
Goldenberg Paula et al. Pediatric annals 2018 May 47(5) e198-e203 - The genetics of aniridia - simple things become complicated.
Wawrocka Anna et al. Journal of applied genetics 2018 May 59(2) 151-159 - Genetic generalized epilepsies.
Mullen Saul A et al. Epilepsia 2018 May - DTC: Direct to Children?
K Stoll, DNA Exchange, May 2018 - Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates Stephanie et al. NPJ genomic medicine 2018 313
Cancer
- TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.
Gray Phillip N et al. Oncotarget 2018 Apr 9(29) 20304-20322 - The 'Jolie Effect' Was A Game-Changer For Breast Cancer, But It Was Just A Start
E Stallings, Huffington Post, May 14, 2018 - New Website Tells Icelandic Women Of Genetic Mutation Linked To Cancer
A Demurtas, Reykajavik Grapevine, May 15, 2018 - All of Us: Eric Dishman’s Story
NIH Director's Blog, May 11, 2018 - Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer
AW Kurian et al, JAMA Oncology, May 2018 - Single Upfront Genomic Test Improves Lynch Syndrome Detection Rates
Cancer Ohio State University, Apr 2018 - The clinical impact of using complex molecular profiling strategies in routine oncology practice.
Laes Jean-François et al. Oncotarget 2018 Apr 9(29) 20282-20293 - Challenges in recruiting African-American women for a breast cancer genetics study.
Compadre Amanda J et al. Hereditary cancer in clinical practice 2018 168 - A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?
Dias Pereira Bernardo et al. International journal of endocrinology 2018 20188470642 - Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.
Schneider Jennifer L et al. Hereditary cancer in clinical practice 2018 1611 - Angelina's impact: Advocates Share
My Gene Counsel, May 14, 2018 - A Community-Based Qualitative Assessment of Knowledge, Barriers, and Promoters of Communicating about Family Cancer History among African-Americans.
Rositch Anne F et al. Health communication 2018 May 1-10 - Patients' Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing.
Wright Sarah et al. Journal of genetic counseling 2018 May - Universal screening of both endometrial and colon cancers increases the detection of Lynch syndrome.
Adar Tomer et al. Cancer 2018 May - Next-generation sequencing in drug development: target identification and genetically stratified clinical trials.
Torshizi Abolfazl Doostparast et al. Drug discovery today 2018 May - Patients' perspectives and experiences concerning barriers to accessing information about bilateral prophylactic mastectomy.
Glassey Rachael et al. Breast (Edinburgh, Scotland) 2018 May 40116-122 - Angelina's impact: Advocates Share
My gene counsel, May 14, 2018 - Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing.
Reap Leo et al. Clinical breast cancer 2018 Apr - Are we ready for the challenge of implementing risk-based breast cancer screening and primary prevention?
Rainey Linda et al. Breast (Edinburgh, Scotland) 2018 Jun 3924-32 - Genetic Counseling Referral Rates in Long-Term Survivors of Triple-Negative Breast Cancer.
Barcenas Carlos H et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 May 16(5) 518-524 - Current clinical topics of Lynch syndrome.
Tanakaya Kohji et al. International journal of clinical oncology 2018 May - Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma.
Lim Sun Min et al. Cancer research and treatment : official journal of Korean Cancer Association 2018 May - Universal screening of Lynch syndrome is ready for implementation.
Di Marco Marco et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 May - Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).
Bellcross Cecelia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 May - Implementation of next generation sequencing technology for somatic mutation detection in routine laboratory practice.
Giardina Tindaro et al. Pathology 2018 May - Effects of Cancer Genetic Panel Testing on at-Risk Individuals.
Frost Anja S et al. Obstetrics and gynecology 2018 May - The influence of genetic variation on late toxicities in childhood cancer survivors: A review.
Clemens E et al. Critical reviews in oncology/hematology 2018 Jun 126154-167 - Genomic alterations of plasma cell-free DNAs in small cell lung cancer and their clinical relevance.
Du Meijun et al. Lung cancer (Amsterdam, Netherlands) 2018 Jun 120113-121 - Highly sensitive detection and mutational analysis of lung cancer circulating tumor cells using integrated combined immunomagnetic beads with a droplet digital PCR chip.
Gao Wanlei et al. Talanta 2018 Aug 185229-236 - Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma.
Gao Xin et al. Clinical genitourinary cancer 2018 Apr - Clinical application of targeted next-generation sequencing for colorectal cancer patients: a multicentric Belgian experience.
D'Haene Nicky et al. Oncotarget 2018 Apr 9(29) 20761-20768 - Systemic inflammatory status predict the outcome of k-RAS WT metastatic colorectal cancer patients receiving the thymidylate synthase poly-epitope-peptide anticancer vaccine.
Correale Pierpaolo et al. Oncotarget 2018 Apr 9(29) 20539-20554 - The use of long non-coding RNAs as prognostic biomarkers and therapeutic targets in prostate cancer.
Arriaga-Canon Cristian et al. Oncotarget 2018 Apr 9(29) 20872-20890 - Multigene testing replacing BRCA tests for breast cancer risk
Stanford University, May 10, 2018 - Prostate-Specific Antigen–Based Screening for Prostate Cancer: Evidence Report and Systematic Review for the US Preventive Services Task Force
JJ Fenton t al, JAMA, May 2018
Chronic Disease
- Clustering of Type 2 Diabetes Genetic Loci by Multi-Trait Associations Identifies Disease Mechanisms and Subtype
MS Udler et al, BioRXIV, May 2018 - The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review.
Freudenberg-Hua Yun et al. Frontiers in medicine 2018 5108 - Combining Polygenic Hazard Score With Volumetric MRI and Cognitive Measures Improves Prediction of Progression From Mild Cognitive Impairment to Alzheimer's Disease.
Kauppi Karolina et al. Frontiers in neuroscience 2018 12260 - Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants.
Dardiotis Efthimios et al. Environment international 2018 Apr 116122-135 - Electronic Medical Records Enable Precision Medicine Approaches for Celiac Disease.
Kosti Idit et al. Journal of pediatric gastroenterology and nutrition 2018 May - Epilepsy and Seizures in Older Adults
- May 12 is ME/CFS and Fibromyalgia International Awareness Day
General Practice
- If doctors are going to do DNA tests at routine checkups, they need more training
A Chen, the Verg,e May 2018 - Precision Public Health: What is it?
M Khoury, CDC Blog Post, May 15, 2018 - Nursing in the Genomic Era
Genomics Education UK, YouTube video, May 2018 - 10 New Genetic Tests Reach the Market Each Day
R Lewis, Medscape, May 2018 - Editorial: Precision Public Health.
Weeramanthri Tarun Stephen et al. Frontiers in public health 2018 6121 - Updated Genetics Guidelines: An Important Step Forward.
Hauptman Paul J et al. Journal of cardiac failure 2018 May 24(5) 279-280 - As D.I.Y. Gene Editing Gains Popularity, 'Someone Is Going to Get Hurt'
E Baumgaertner, NY Times, May 14, 2018 - HERC database of health economics and genomics studies
HERC, Nuffield Department of Population Health, May 2018 - SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine.
Dayem Ullah Abu Z et al. Nucleic acids research 2018 May - Consent to a Postmortem Tissue Procurement Study: Distinguishing Family Decision Makers' Knowledge of the Genotype-Tissue Expression Project.
Siminoff Laura A et al. Biopreservation and biobanking 2018 May - Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence.
Reid Allecia E et al. Health psychology : official journal of the Division of Health Psychology, American Psychological Association 2018 May - Clinical and Personal Utility of Genetic Risk Testing.
David Sean P et al. American family physician 2018 May 97(9) 600-602 - Frameshifts in Code and in Care: The Importance of Timely Genetic Evaluation.
Reza Nosheen et al. Circulation. Genomic and precision medicine 2018 May 11(5) e002215 - Physician Preparedness for Big Genomic Data: A Review of Genomic Medicine Education Initiatives in the United States.
Rubanovich Caryn Kseniya et al. Human molecular genetics 2018 May - Clinical providers' experiences with returning results from genomic sequencing: an interview study.
Wynn Julia et al. BMC medical genomics 2018 May 11(1) 45 - A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?
Alekseyev Yuriy O et al. Academic pathology 52374289518766521 - Women's Health Topics
FDA, May 2018 - Celebrate National Women’s Health Week!
Heart, Lung, Blood and Sleep Diseases
- Familial Hypercholesterolemia and Pregnancy
G Lundberg et al, Am College Cardiology, May 14, 2018 - Response by Kapplinger et al to Letter Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation".
Kapplinger Jamie D et al. Circulation. Genomic and precision medicine 2018 May 11(5) e002176 - Omics of Blood Pressure and Hypertension
DK Arnett et al, Circulation Res, May 2018 - Diagnosing ARVC in Pediatric Patients Applying the Revised Task Force Criteria: Importance of Imaging, 12-Lead ECG, and Genetics.
Steinmetz Michael et al. Pediatric cardiology 2018 May - Genetic Testing to Assess Risk of Heart Attack
A Cook. Center for Genomic Medicine, May 9, 2018 - Clinical Genetics in Interstitial Lung Disease.
Newton Chad A et al. Frontiers in medicine 2018 5116 - Letter by Ruiz-Guerrero et al Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation".
Ruiz-Guerrero Luis et al. Circulation. Genomic and precision medicine 2018 May 11(5) e002159 - Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.
Thomford Nicholas Ekow et al. Omics : a journal of integrative biology 2018 May 22(5) 301-321 - Improving identification and management of familial hypercholesterolaemia in primary care: Pre- and post-intervention study.
Weng Stephen et al. Atherosclerosis 2018 Apr 27454-60 - Coronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study.
Pérez de Isla Leopoldo et al. Journal of clinical lipidology 2018 Apr - Umbilical Cord Blood May Offer Early FH Diagnosis
L Davenport, Medscape, May 10, 2018 - Population Screening for Hemoglobinopathies.
Goonasekera H W et al. Annual review of genomics and human genetics 2018 May
Newborn Screening
- Newborn Screening for Severe Combined Immunodeficiency.
Routes John et al. Current allergy and asthma reports 2018 May 18(6) 34 - Updates in Newborn Screening.
Rajabi Farrah et al. Pediatric annals 2018 May 47(5) e187-e190 - Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis.
Taylor-Phillips Sian et al. BMJ (Clinical research ed.) 2018 May 361k1612
Pharmacogenomics
- Analyzing the clinical actionability of germline pharmacogenomic findings in oncology.
Wellmann Rebecca et al. Cancer 2018 May - Pharmacogenomic Primer for the Pediatrician-What Is Really Important?
Manzi Shannon et al. Pediatric annals 2018 May 47(5) e217-e219 - Analytical validation of a psychiatric pharmacogenomic test.
Jablonski Michael R et al. Personalized medicine 2018 Feb
Reproductive Health
- Evaluation of a novel non-invasive preimplantation genetic screening approach.
Kuznyetsov Valeriy et al. PloS one 2018 13(5) e0197262 - Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Hogan Gregory J et al. Clinical chemistry 2018 May - Clinical results after the implementation of cell-free fetal DNA detection in maternal plasma.
Martínez-Payo Cristina et al. The journal of obstetrics and gynaecology research 2018 May - Maternal Genetic Disorders in Pregnancy.
Harris Sarah et al. Obstetrics and gynecology clinics of North America 2018 Jun 45(2) 249-265 - Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Punj Sumit et al. American journal of human genetics 2018 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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