Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Publication Date: Aug 29, 2019

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
• Pharmacogenomics

Birth Defects and Child Health

• The Implementation, Diagnostic Yield and Clinical Outcome of Genetic Testing on an Inpatient Child and Adolescent Psychiatry Service
  AD Besterman et al, MedRXIV preprint, August 2019
• The influence of genetics in congenital diaphragmatic hernia.
  Yu Lan et al. Seminars in perinatology 2019 Aug 151169
• Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
  Truty Rebecca et al. Epilepsia open 2019 Sep 4(3) 397-408
• At-home genetic testing in pediatrics.
  Weissman Scott M et al. Current opinion in pediatrics 2019 Aug

Cancer

• US Preventive Services Task Force Breast Cancer Recommendation Statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.
  Newman Lisa et al. JAMA surgery 2019 Aug
• Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.
  et al. JAMA 2019 322(7) 652-665
• Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model.
  Terkelsen Thorkild et al. Familial cancer 2019 Aug
• Guidelines of care for the management of primary cutaneous melanoma.
  Swetter Susan M et al. Journal of the American Academy of Dermatology 2019 80(1) 208-250
• New BRCA recommendations: What primary care doctors must know,
  by Kevin B. O?Reilly, AMA, August 22, 2019
• Lynch Syndrome: Current management In 2019.
  Menahem B et al. Journal of visceral surgery 2019 Aug
• Evaluation of a Clinical Decision Support System for the Prescription of Genetic Tests in the Gynecological Cancer Risk.
  Moreno-Conde Jesús et al. Studies in health technology and informatics 2019 Aug 264704-708
• Psychosocial and Cultural Determinants of Interest and Uptake of Skin Cancer Genetic Testing in Diverse Primary Care.
  Hay Jennifer L et al. Public health genomics 2019 Aug 1-11
• Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
  Nelson Heidi D et al. JAMA 2019 322(7) 666-685
• Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital.
  Simarro Javier et al. Cancers 2019 Aug 11(8)
• Quantitative risk of positive family history in developing colorectal cancer: A meta-analysis.
  Mehraban Far Parsa et al. World journal of gastroenterology 2019 Aug 25(30) 4278-4291

Chronic Disease

• A Deep Learning-Based Approach for Gait Analysis in Huntington Disease.
  Zhang Shisheng et al. Studies in health technology and informatics 2019 Aug 264477-481
• Practical considerations for APOL1 genotyping in the living kidney donor evaluation.
  Mena-Gutierrez Alejandra M et al. Transplantation 2019 Aug
• Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms.
  Ramond Francis et al. Molecular genetics & genomic medicine 2019 Aug e881
• The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications.
  Gossye Helena et al. Frontiers in neuroscience 2019 13757

Ethical, Legal and Social Issues (ELSI)

• Public Views on Models for Accessing Genomic and Health Data for Research: Mixed Methods Study.
  Jones Kerina H et al. Journal of medical Internet research 2019 Aug 21(8) e14384
• Important Considerations in Modeling the Cost-Effectiveness for the First Food and Drug Administration-Approved Gene Therapy and Implications for Future One-Time Therapies.
  Buessing Marric et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Aug 22(8) 970-971
• Genetic oncology testing is complex, but coverage and reimbursement don't have to be.
  James L Patrick et al. The American journal of managed care 2019 Aug 25(9 Spec No.) SP288-SP289
• Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions.
  Simeonidis Stavros et al. Frontiers in pharmacology 2019 10830

General Practice

• Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
  Fokkema Ivo F A C et al. Human mutation 2019 Aug
• Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
  et al. American journal of human genetics 2019 Aug
• Examining genetic counselors' implicit attitudes toward disability.
  Gould Helen et al. Journal of genetic counseling 2019 Aug

Heart, Lung, Blood and Sleep Diseases

• An overview of inherited factor VII deficiency.
  Robinson K Sue et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019 Aug
• Assessment of the information sources and interest in research collaboration among individuals with Vascular Ehlers-Danlos Syndrome.
  Shalhub Sherene et al. Annals of vascular surgery 2019 Aug
• Correlates of successful transition in young adults with sickle cell disease.
  Darbari Isha et al. Pediatric blood & cancer 2019 Aug e27939

Pharmacogenomics

• Risk versus benefit of chemoprevention among raloxifene and tamoxifen users with a family history of breast cancer.
  Anderson Chelsea et al. Cancer prevention research (Philadelphia, Pa.) 2019 Aug
• The ImPreSS Trial: Implementation of Point-of-Care Pharmacogenomic Decision Support in Perioperative Care.
  Truong Tien M et al. Clinical pharmacology and therapeutics 2019 Aug
• Pharmacogenetics of statins treatment: Efficacy and safety.
  Guan Zi-Wan et al. Journal of clinical pharmacy and therapeutics 2019 Aug
• Using Pharmacogenomic Testing in Primary Care: Protocol for a Pilot Randomized Controlled Study.
  Manzor Mitrzyk Beatriz et al. JMIR research protocols 2019 Aug 8(8) e13848
• Potential role of pharmacogenomics testing in the setting of enhanced recovery pathways after surgery.
  Awad Hamdy et al. Pharmacogenomics and personalized medicine 2019 12145-154
• Global Text Mining and Development of Pharmacogenomic Knowledge Resource for Precision Medicine.
  Guin Debleena et al. Frontiers in pharmacology 2019 10839

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.

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB