Publication Date: Jun 29, 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Mitochondrial disease has a disproportionate healthcare burden in US
Science Mag, June 28, 2017 - Genes, Ozone and Autism
Science Mag, June 23, 2017 - Sickle Cell Disease in the Emergency Department: Confronting Barriers to Care
- NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E et al. European journal of medical genetics 2017 Jun - Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
Rengasamy Venugopalan S et al. Orthodontics & craniofacial research 2017 Jun 20 Suppl 150-56 - Development of the Tailored Rett Intervention and Assessment Longitudinal (TRIAL) database and the Rett Evaluation of Symptoms and Treatments (REST) Questionnaire.
Santosh Paramala et al. BMJ open 2017 Jun 7(6) e015342 - A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Wang Neng-Li et al. PloS one 2016 11(10) e0164058 - Initial experience of a hereditary hemorrhagic telangiectasia center of excellence.
Thompson Christopher F et al. Ear, nose, & throat journal 2017 Jun 96(6) E33-E36 - Prevent Type 2 Diabetes in Kids
- Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.
Martin Christa Lese et al. JAMA 2017 Jun 317(24) 2545-2546 - Recognition, investigation and management of mitochondrial disease.
Davison James E et al. Archives of disease in childhood 2017 Jun - Researchers uncover genetic gains and losses in Tourette syndrome
NIH, June 21, 2017 - In a medical first, 'long read' DNA sequencing solves a diagnostic mystery
S Begley, StatNews, June 22, 2017
Cancer
- Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women
AW Kurian, JCO Precision Oncology, June 27, 2017 - A Maintenance Trial for Patients with BRCA or PALB2 Mutations
Let's win, June 27, 2017 - Family history and location of genetic fault affect risk for carriers of cancer genes
Science Mag, June 2017 - What Mormon Family Trees Tell Us About Cancer
The Atlantic, June 2017 - Summer Sun Safety: Protect Yourself from UV Radiation
- Practical considerations for diagnosis and management of patients and carriers.
Niemeyer Charlotte M et al. Seminars in hematology 2017 Apr 54(2) 69-74 - Apparent diffusion coefficient in estrogen receptor-positive and lymph node-negative invasive breast cancers at 3.0T DW-MRI: A potential predictor for an oncotype Dx test recurrence score.
Thakur Sunitha B et al. Journal of magnetic resonance imaging : JMRI 2017 Jun - Significant Improvement in Detecting BRAF, KRAS, and EGFR Mutations Using Next-Generation Sequencing as Compared with FDA-Cleared Kits.
Ma Wanlong et al. Molecular diagnosis & therapy 2017 Jun - Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Buzolin Ana Lígia et al. Human genomics 2017 Jun 11(1) 14 - Benefits and harms of prostate cancer screening - predictions of the ONCOTYROL prostate cancer outcome and policy model.
Mühlberger Nikolai et al. BMC public health 2017 Jun 17(1) 596 - RAS screening in colorectal cancer: a comprehensive analysis of the results from the UK NEQAS colorectal cancer external quality assurance schemes (2009-2016).
Richman Susan D et al. Virchows Archiv : an international journal of pathology 2017 Jun - Genetic tests help identify relative risk of 25 cancer-associated mutations
Eureka Alert, June 27, 2017 - Age-specific overall risk of breast, ovarian cancer among women with BRCA1/2 genetic mutations
Science Mag, June 20, 2017 - The Changing Landscape of Genetic Testing for Inherited Breast Cancer Predisposition.
Afghahi Anosheh et al. Current treatment options in oncology 2017 May 18(5) 27 - The Role of Genetic Testing in Patients With Breast Cancer: A Review.
Valencia Olivia M et al. JAMA surgery 2017 Jun 152(6) 589-594 - Implementation and utilization of the molecular tumor board to guide precision medicine.
Harada Shuko et al. Oncotarget 2017 Jun - Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch Syndrome carriers: randomized controlled trial.
Vrieling Alina et al. Clinical genetics 2017 Jun - Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.
Azzollini Jacopo et al. European journal of internal medicine 2016 Jul 3265-71 - Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.
Grindedal Eli Marie et al. BMC cancer 2017 Jun 17(1) 438 - Utility of genomic analysis in circulating tumor DNA from patients with carcinoma of unknown primary.
Kato Shumei et al. Cancer research 2017 Jun - Validation of microsatellite instability histology scores with Bethesda guidelines in hereditary nonpolyposis colorectal cancer.
Kaya Mustafa et al. Journal of cancer research and therapeutics 13(2) 356-361 - Evaluation of molecular diagnostic approaches for the detection of BRAF p.V600E mutations in papillary thyroid cancer: Clinical implications.
Kowalik Artur et al. PloS one 2017 12(6) e0179691 - Precision medicine in pediatric oncology: Lessons learned and next steps.
Mody Rajen J et al. Pediatric blood & cancer 2017 Mar 64(3) - Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.
Alqahtani Masood et al. Familial cancer 2017 Jun
Chronic Disease
- Using Personalized Medicine in the Management of Diabetes Mellitus.
Elk Nina et al. Pharmacotherapy 2017 Jun - Huntington's Disease: Gene Editing Shows Promise in Mouse Studies
F Collins, NIH director blog, June 27, 2017 - Genetic screening in sporadic ALS and FTD.
Turner Martin R et al. Journal of neurology, neurosurgery, and psychiatry 2017 Jun - Genetics of Depression: Progress at Last.
Mullins Niamh et al. Current psychiatry reports 2017 Aug 19(8) 43 - REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review.
Apolinário T A et al. Genetics and molecular research : GMR 2017 Apr 16(2) - The evolving genetic risk for sporadic ALS.
Gibson Summer B et al. Neurology 2017 Jun - Can CRISPR Conquer Huntington?s?
R Lewis, PLOS Blogs, June 28, 2017
Ethics/Policy/Law
- Health-Related Genetic Direct-to-Consumer Tests in the German Setting: The Available Offer and the Potential Implications for a Solidarily Financed Health-Care System.
Plöthner Marika et al. Public health genomics 2017 Jun - Genetic screening: birthright or earned with age?
Mollison Lonna et al. Expert review of molecular diagnostics 2017 Jun - Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally.
Molnár-Gábor Fruzsina et al. Genome medicine 2017 Jun 9(1) 58
Practice
- Genetic Counselors Hold the Key to the Genomics Revolution
J Austin, NSGC Blog Post, June 26, 2017 - The Consequences of Sequencing Healthy People
A Mika, The Scientist, June 26, 2017 - In healthy patients, genome sequencing raises alarms while offering few benefits
S Begley, Stat News, June 26, 2017 - Routine DNA Sequencing May Be Helpful And Not As Scary As Feared
NPR Health, June 26, 2017 - Does Whole Genome Sequencing Have A Role in Primary Care?
L Husten, Cardio Brief, June 26, 2017 - Sequencing Healthy Patients Reveals That Many Carry Rare Genetic Disease Risks
Bio IT Word, June 27, 2017 - Epigenomics: what is the epigenome and what does it do?
NHGRI fact sheet, 2017 - One in five 'healthy' adults may carry disease-related genetic mutations
R Cross, Science Magazine, June 27, 2017 - Resident Education in Molecular and Genetic Testing in Dermatology: An Opportunity Not to Be Missed.
Murphy Michael J et al. The American Journal of dermatopathology 2017 Jun - Teaching Primary Care Genetics: A Randomized Controlled Trial Comparison.
Telner Deanna et al. Family medicine 2017 Jun 49(6) 443-450 - Whole-Genome Sequencing in Primary Care.
et al. Annals of internal medicine 2017 Jun - Incorporating Whole-Genome Sequencing Into Primary Care: Falling Barriers and Next Steps.
Manolio Teri A et al. Annals of internal medicine 2017 Jun - The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Vassy Jason L et al. Annals of internal medicine 2017 Jun - Scientists discover DNA might not be that useful as part of your checkup
CY Johnson, Washington Post, June 27, 2017 - Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.
Korf Bruce R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun - Working towards precision medicine: predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Daneshjou Roxana et al. Human mutation 2017 Jun
Cardiovascular Diseasesr
- Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.
Ko Carol et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun - Putting Into Perspective the Hazards of Untreated Familial Hypercholesterolemia.
Hopkins Paul N et al. Journal of the American Heart Association 2017 Jun 6(6) - Long-Term Cardiovascular Risk in Heterozygous Familial Hypercholesterolemia Relatives Identified by Cascade Screening.
Kjærgaard Kasper Aalbæk et al. Journal of the American Heart Association 2017 Jun 6(6) - PCSK9 inhibitor access barriers-issues and recommendations: Improving the access process for patients, clinicians and payers.
Baum Seth J et al. Clinical cardiology 2017 Apr 40(4) 243-254
Pharmacogenomics
- Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe.
Lu Mengfei et al. BMC medical genomics 2017 Jun 10(1) 47 - Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience.
Rohrer Vitek Carolyn R et al. Pharmacogenomics 2017 Jun - Commentary: Should Pharmacogenomic Evidence Be Considered in Clinical Decision Making? Focus on Select Cardiovascular Drugs.
Bottorff Michael B et al. Pharmacotherapy 2017 Jun - Investigating Real-World Clopidogrel Pharmacogenetics in Stroke Using a Bioresource Linked to Electronic Medical Records.
Tornio Aleksi et al. Clinical pharmacology and therapeutics 2017 Jun - Serotonin transporter gene polymorphisms and SSRI tolerability: review of pharmacogenetic evidence.
Zhu Jing et al. Pharmacotherapy 2017 Jun - Analgesia and Opioids: A Pharmacogenetics Shortlist for Implementation in Clinical Practice.
Matic Maja et al. Clinical chemistry 2017 Jun
Reproductive Health
- Promises, Pitfalls and Practicalities of Prenatal Whole Exome Sequencing.
Best Sunayna et al. Prenatal diagnosis 2017 Jun - Perinatal genetic screening: new technologies help parents learn more about the health of their baby
S Rosen, Mayo clinic individualized medicine blog, June 2017 - Systematic design and comparison of expanded carrier screening panels.
Beauchamp Kyle A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun - Novel reproductive technologies to prevent mitochondrial disease.
Craven Lyndsey et al. Human reproduction update 2017 Jun 1-19
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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