Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Jan 10, 2019

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

Archived Editions

Search Genomics & Health Impact Scan database

Visit CDC Office of Public Health Genomics website

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethical, Legal and Social Issues (ELSI)
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
  Sánchez Fernández Iván et al. Neurology 2019 Jan
• Identifying facial phenotypes of genetic disorders using deep learning
  Y Gurovich et al, Nature Medicine
• Challenging the Current Recommendations for Carrier Testing in Children.
  VanNoy Grace E et al. Pediatrics 2019 Jan 143(Suppl 1) S27-S32
• Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.
  Wofford Sara et al. Journal of child neurology 2019 Jan 883073818821036
• Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series.
  Rubanovich Caryn Kseniya et al. Pediatrics 2019 Jan 143(Suppl 1) S44-S53

Cancer

• Next-generation sequencing in precision oncology: Patient understanding and expectations.
  Roberts J Scott et al. Cancer medicine 2019 Jan
• Healthy Lifestyle Factors Associated With Lower Risk of Colorectal Cancer Irrespective of Genetic Risk.
  Carr Prudence R et al. Gastroenterology 2018 155(6) 1805-1815.e5
• Cancer susceptibility gene mutations in type I and II endometrial cancer.
  Long Beverly et al. Gynecologic oncology 2019 Jan 152(1) 20-25
• Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
  Younes Nadin et al. Gene 2019 Feb 684154-164
• Association of JAK2-V617F Mutations Detected by Solid Tumor Sequencing With Coexistent Myeloproliferative Neoplasms
  G Riedlinger et al, JAMA Oncology, January 3, 2019
• Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.
  Wendt Camilla et al. Acta oncologica (Stockholm, Sweden) 2019 Jan 1-12
• Draft Research Plan for Colorectal Cancer: Screening
  U.S. Preventive Services Task Force is inviting the public for comments until January 30, 2019
• Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
  Fulk Kelly et al. Gynecologic oncology 2019 Jan

Chronic Disease

• Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk
  IE Jansen et al, Nature Genetics, January 7, 2019
• Cardiometabolic polygenic risk scores and osteoarthritis outcomes: a Mendelian randomization study from the Malmӧ Diet and Cancer Study and the UK Biobank.
  Hindy George et al. Arthritis & rheumatology (Hoboken, N.J.) 2019 Jan
• A Polygenic Risk Score Derived From Episodic Memory Weighted Genetic Variants Is Associated With Cognitive Decline in Preclinical Alzheimer's Disease.
  Porter Tenielle et al. Frontiers in aging neuroscience 2018 10423

Ethical, Legal and Social Issues (ELSI)

• Return of individual genomic research results: are laws and policies keeping step?
  A Thorogood et al, EJHG, January 8, 2019
• Integrating Genomics into Psychiatric Practice: Ethical and Legal Challenges for Clinicians.
  Ward Eric T et al. Harvard review of psychiatry 27(1) 53-64
• Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness.
  et al. American journal of human genetics 2019 Jan 104(1) 6-7

General Practice

• A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases.
  Oliveri Serena et al. Frontiers in genetics 2018 9624
• Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.
  Bris Céline et al. Frontiers in genetics 2018 9632
• Hidden 'risk' in polygenic scores: clinical use today could exacerbate health disparities
  AR Martin et al. BioRXIV, January 23, 019
• Factors influencing use of telegenetic counseling: perceptions of health care professionals in Sweden.
  Pestoff Rebecka et al. Journal of community genetics 2019 Jan
• Effect of Genetically Low 25-Hydroxyvitamin D on Mortality Risk: Mendelian Randomization Analysis in 3 Large European Cohorts.
  Aspelund Thor et al. Nutrients 2019 Jan 11(1)
• Designing and Implementing NGS Tests for Inherited Disorders - a Practical Framework with Step-by-Step Guidance for Clinical Laboratories.
  Santani Avni et al. The Journal of molecular diagnostics : JMD 2018 Dec
• Integrating Genomics into Healthcare: A Global Responsibility
  Z Stark et al, AJHG, January 3, 2019
• VA Primary Care and Mental Health Providers' Comfort with Genetic Testing: Survey Results from the PRIME Care Study.
  Hull Leland E et al. Journal of general internal medicine 2019 Jan

Heart, Lung, Blood and Sleep Diseases

• Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program
  Y San et al. Circulation Genomics Prec Medicine, December 2018
• Early diagnosis and treatment of familial hypercholesterolemia.
  Elkins J Casey et al. The Nurse practitioner 2019 Jan
• Familial hypercholesterolemia and young patients' thoughts on own condition and treatment.
  Urke Eli Bjørnøy et al. Patient education and counseling 2018 Dec
• The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world.
  Pierce Glenn F et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jan
• Prognostic Impact of Genetic Polymorphism in Mineralocorticoid Receptor and Comorbidity With Hypertension in Androgen-Deprivation Therapy.
  Shiota Masaki et al. Frontiers in oncology 2018 8635
• Cost Efficacy of ?-Galactosidase A Enzyme Screening for Fabry Disease.
  Newman Darrell B et al. Mayo Clinic proceedings 2019 Jan 94(1) 84-88
• 
  
• 
  

Newborn Screening

• Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
  Okoniewski Katherine C et al. Brain sciences 2019 Jan 9(1)
• Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns.
  Lantos John D et al. Pediatrics 2019 Jan 143(Suppl 1) S1-S5
• Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus pre-screening patients.
  Riedl Stefan et al. Endocrine connections 2019 Jan
• Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
  O Ceyhan-Birsoy et al, AJHG, January 3, 2019
• Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.
  Pereira Stacey et al. Pediatrics 2019 Jan 143(Suppl 1) S6-S13
• Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
  Janeiro Patrícia et al. European journal of pediatrics 2019 Jan
• A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
  Wang Wenjie et al. BMC medical genetics 2019 Jan 20(1) 3
• Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns.
  Rueegg Corina S et al. Pediatric pulmonology 2019 Jan
• Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
  Ceyhan-Birsoy Ozge et al. American journal of human genetics 2019 Jan 104(1) 76-93

Pharmacogenomics

• Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study
  JF Greden et al,J Psych Research, January 3, 2019
• Mutations in CYP2C9 and/or VKORC1 haplotype are associated with higher bleeding complications in patients with Budd-Chiari syndrome on warfarin.
  Shukla Akash et al. Hepatology international 2019 Jan

Reproductive Health

• Preimplantation genetic testing for monogenic diseases: a Brazilian IVF centre experience.
  Zanetti Bianca Ferrarini et al. JBRA assisted reproduction 2019 Jan
• Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre.
  Bristow Sara L et al. Reproductive biomedicine online 2018 Dec

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.