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 15, 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
• Reproductive Health

Birth Defects and Child Health

• Examining the Importance of Family History in Pediatric Behavioural Referrals.
  Gander Sarah et al. Cureus 2019 May 11(5) e4790
• Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?
  Taylor Shelby et al. Journal of genetic counseling 2019 Aug
• Genomic medicine for undiagnosed diseases.
  Wise Anastasia L et al. Lancet (London, England) 2019 Aug 394(10197) 533-540

Cancer

• Identification and Clinical Validation of a Novel 4 Gene-Signature with Prognostic Utility in Colorectal Cancer.
  Ahluwalia Pankaj et al. International journal of molecular sciences 2019 Aug 20(15)
• Oncologist uptake of comprehensive genomic profile guided targeted therapy.
  Nesline Mary K et al. Oncotarget 2019 Jul 10(45) 4616-4629
• Barriers to the utilization of genetic testing and genetic counseling in patients with suspected hereditary breast and ovarian cancers.
  Swink Alicia et al. Proceedings (Baylor University. Medical Center) 2019 Jul 32(3) 340-344
• Concomitant Genetic Alterations are Associated with Worse Clinical Outcome in EGFR Mutant NSCLC Patients Treated with Tyrosine Kinase Inhibitors.
  Chang Shih-Chieh et al. Translational oncology 2019 Aug 12(11) 1425-1431
• Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis.
  Rodriguez Begona Jimenez et al. Journal of clinical medicine 2019 Aug 8(8)
• Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
  Li Shuwei et al. Journal of medical genetics 2019 Aug
• Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.
  Niu Xin et al. Contemporary clinical trials 2019 Aug 105820
• Urinary DNA methylation biomarkers for prediction of prostate cancer upgrading and upstaging.
  Bakavicius Arnas et al. Clinical epigenetics 2019 Aug 11(1) 115
• Gastrointestinal stromal tumours (GISTs): French Intergroup Clinical Practice Guidelines for diagnosis, treatments and follow-up (SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO).
  Landi Bruno et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019 Aug
• Benefits, harms and cost-effectiveness of cancer screening in Australia: an overview of modelling estimates.
  Lew Jie-Bin et al. Public health research & practice 2019 Jul 29(2)
• Cancer screening in Australia: future directions in melanoma, Lynch syndrome, and liver, lung and prostate cancers.
  Weber Marianne F et al. Public health research & practice 2019 Jul 29(2)
• Assessment of significant procedures in multigene molecular detection for breast cancer in clinical laboratories: from variant detection to targeted therapy.
  Zhang Rui et al. Breast cancer (Tokyo, Japan) 2019 Aug
• Designing gene panels for tumor mutational burden estimation: the need to shift from 'correlation' to 'accuracy'.
  Wu Hao-Xiang et al. Journal for immunotherapy of cancer 2019 Aug 7(1) 206
• Feasibility of circulating tumor DNA testing in hepatocellular carcinoma.
  Mody Kabir et al. Journal of gastrointestinal oncology 2019 Aug 10(4) 745-750
• Global celebrities' effect on health awareness among Jordanians: A study using the case of Angelina Jolie.
  Al-Hussaini Maysa et al. Journal of genetic counseling 2019 Aug

Chronic Disease

• Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.
  Jayasinghe Kushani et al. BMJ open 2019 Aug 9(8) e029541

Ethical, Legal and Social Issues (ELSI)

• Exploring the Role of Shared Decision Making in the Consent Process for Pediatric Genomics Research in Cameroon, Tanzania, and Ghana.
  Bukini Daima et al. AJOB empirical bioethics 10(3) 182-189
• What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening.
  Nicholls Stuart G et al. Public health ethics 2019 Jul 12(2) 158-175

General Practice

• Perspectives From Early Career Investigators Who Are "Staying in the Game" of Precision Public Health Research.
  Allen Caitlin G et al. American journal of public health 2019 Sep 109(9) 1186-1187
• Advocacy and actions to address disparities in access to genomic health care: A report on a National Academies workshop.
  Williams Janet K et al. Nursing outlook 2019 Jun
• Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank
  H Wang et al, Science Advances, AUgust 14, 2019
• Opportunities, resources, and techniques for implementing genomics in clinical care.
  Manolio Teri A et al. Lancet (London, England) 2019 Aug 394(10197) 511-520
• Seeking precision in public health.
  et al. Nature medicine 2019 Aug 25(8) 1177
• Family health history: underused for actionable risk assessment.
  Ginsburg Geoffrey S et al. Lancet (London, England) 2019 Aug

Heart, Lung, Blood and Sleep Diseases

• Genetic testing for aortopathies: primer for the nongeneticist.
  De Backer Julie et al. Current opinion in cardiology 2019 Aug
• Adherence to Quality of Care Indicators and Location of Sickle Cell Care Within Indiana.
  Meier Emily Riehm et al. Journal of community health 2019 Aug
• Cardiac Evaluation of Children With a Family History of Sudden Death.
  Webster Gregory et al. Journal of the American College of Cardiology 2019 Aug 74(6) 759-770
• Genetic Testing for Thrombophilia-Related Genes: Observations of Testing Patterns for Factor V Leiden (G1691A) and Prothrombin Gene "Mutation" (G20210A).
  Favaloro Emmanuel J et al. Seminars in thrombosis and hemostasis 2019 Aug

Pharmacogenomics

• Pharmacogenomic Biomarkers in Docetaxel Treatment of Prostate Cancer: From Discovery to Implementation.
  Varnai Reka et al. Genes 2019 Aug 10(8)
• Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project.
  Gaedigk Andrea et al. The Journal of molecular diagnostics : JMD 2019 Aug
• Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population.
  Salyakina Daria et al. Molecular genetics & genomic medicine 2019 Aug e922
• Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.
  Hippman Catriona et al. Journal of personalized medicine 2019 Aug 9(3)

Reproductive Health

• Optimized combination of multiple biomarkers to improve diagnostic accuracy in male fertility.
  Park Yoo-Jin et al. Theriogenology 2019 Aug 139106-112
• Pregnant women with confirmed neoplasms should not have non-invasive prenatal testing.
  Lenaerts Liesbeth et al. Prenatal diagnosis 2019 Aug

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