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 22, 2019

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• General Practice
• Heart, Lung, Blood and Sleep Diseases
• Pharmacogenomics
• Reproductive Health

Birth Defects and Child Health

• Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
  Krenn M et al. European journal of neurology 2019 Jul
• Congenital Heart Disease: Prenatal Diagnosis and Genetic Associations.
  Hopkins Maeve K et al. Obstetrical & gynecological survey 2019 Aug 74(8) 497-503
• Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
  Munnich Arnold et al. Molecular autism 2019 1033
• Fertility preservation in Turner Syndrome: karyotype doesn't predict ovarian response to stimulation.
  Vergier Julia et al. Clinical endocrinology 2019 Aug

Cancer

• Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts.
  Mitchell Sarah G et al. Current oncology reports 2019 Aug 21(10) 85
• The Genetic Education for Men (GEM) Trial: Development of Web-Based Education for Untested Men in BRCA1/2-Positive Families.
  Peshkin Beth N et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 Aug
• A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
  LaDuca Holly et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
• Digging through a genomic goldmine: Defining the optimum upper urinary tract surveillance strategy for Lynch Syndrome.
  Khan-Ruf Sarah et al. BJU international 2019 Aug
• Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer US Preventive Services Task Force Recommendation Statement
  USPSTF, JAMA, August 20, 2019
• Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study.
  West Allison H et al. Cancer medicine 2019 Aug
• Patient-physician relationships, health self-efficacy, and gynecologic cancer screening among women with Lynch syndrome.
  McGarragle Kaitlin M et al. Hereditary cancer in clinical practice 2019 1724
• 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
  HD Nelson et al, JAMA, August 20, 2019
• Breast cancer risk assessment: Evaluation of screening tools for genetics referral.
  Himes Deborah O et al. Journal of the American Association of Nurse Practitioners 2019 Aug
• Cost-utility analysis of genetic polymorphism universal screening in colorectal cancer prevention by detection of high-risk individuals.
  Pereira Carina 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
• Molecular Testing Versus Diagnostic Lobectomy in Bethesda III/IV Thyroid Nodules: A Cost-Effectiveness Analysis.
  Nicholson Kristina et al. Thyroid : official journal of the American Thyroid Association 2019 Aug

Chronic Disease

• Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
  Lin Angela E et al. American journal of medical genetics. Part A 2019 Aug

General Practice

• The "All of Us" Research Program.
  et al. The New England journal of medicine 2019 381(7) 668-676
• "Our Job is that Whole Gray Zone in Between There": Investigating Genetic Counselors' Strategies for Managing and Communicating Uncertainty.
  Zhong Lingzi et al. Health communication 2019 Aug 1-10

Heart, Lung, Blood and Sleep Diseases

• Risk of Ischemic Stroke and Peripheral Arterial Disease in Heterozygous Familial Hypercholesterolemia: A Meta-Analysis.
  Akioyamen Leo E et al. Angiology 2019 Sep 70(8) 726-736
• Biomarkers of DNA damage in COPD patients undergoing pulmonary rehabilitation: Integrating clinical parameters with genomic profiling.
  Russo Patrizia et al. Mutation research 2019 Jul 843111-117
• Exercise testing and exercise training within cystic fibrosis centres across Australia and New Zealand: what is considered important and what is current practice?
  Sawyer Abbey et al. Internal medicine journal 2019 Aug
• Emerging non-genetic therapies for sickle cell disease.
  Carden Marcus A et al. Haematologica 2019 Aug
• The Experience and Health-Related Quality of Life after Haploidentical Stem Cell Transplantation for Adults with Sickle Cell Disease.
  Hastings Brooklyn et al. Western journal of nursing research 2019 Aug 193945919870828
• Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results.
  Nightingale Brooke M et al. Journal of genetic counseling 2019 Aug

Pharmacogenomics

• Genetic literacy series: clinical application of pharmacogenetics for adverse reactions to antiepileptic drugs.
  Zhang Zhongbin et al. Epileptic disorders : international epilepsy journal with videotape 2019 Aug 21(4) 330-336
• Pharmacogenomic considerations for medications in the perioperative setting.
  Jhun Ellie H et al. Pharmacogenomics 2019 Jul 20(11) 813-827
• Leveraging the utility of pharmacogenomics in psychiatry through clinical decision support: a focus group study.
  Goodspeed Andrew et al. Annals of general psychiatry 2019 1813
• Pharmacogenes (PGx-genes): Current understanding and future directions.
  Katara Pramod et al. Gene 2019 Aug 144050
• ERCC1 Is a Predictor of Anthracycline Resistance and Taxane Sensitivity in Early Stage or Locally Advanced Breast Cancers.
  Abdel-Fatah Tarek M A et al. Cancers 2019 Aug 11(8)

Reproductive Health

• The evolving role of genetic tests in reproductive medicine.
  Cariati Federica et al. Journal of translational medicine 2019 Aug 17(1) 267

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.