Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Dec 6, 2018

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

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Human Genomics across the Lifespan

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

Birth Defects and Child Health

• The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories.
  Charest-Morin Xavier et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018 1483
• Cardiac MRI biomarkers for Duchenne muscular dystrophy.
  Magrath Patrick et al. Biomarkers in medicine 2018 Nov

Cancer

• A seven-Gene Signature assay improves prognostic risk stratification of perioperative chemotherapy treated gastroesophageal cancer patients from the MAGIC trial.
  Smyth E C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Nov
• Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
  Frey Melissa K et al. Cancer 2018 Nov
• Circulating Tumor and Invasive Cell Gene Expression Profile Predicts Treatment Response and Survival in Pancreatic Adenocarcinoma.
  Yu Kenneth H et al. Cancers 2018 Nov 10(12)
• Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents.
  Scollon Sarah et al. Patient education and counseling 2018 Nov
• Management Decisions Made by Physician Assistants and Nurse Practitioners in Cutaneous Malignant Melanoma Patients: Impact of a 31-Gene Expression Profile Test
  Mirsky Rachel et al. Journal of drugs in dermatology : JDD 2018 Nov 17(11) 1220-1223
• A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
  Nunziato Marcella et al. Analytica chimica acta 2019 Jan 1046154-162
• The discovery of a novel eight-mRNA-lncRNA signature predicting survival of hepatocellular carcinoma patients.
  Shi Ye-Min et al. Journal of cellular biochemistry 2018 Nov
• Uterine cancer in Jewish Israeli BRCA1/BRCA2 mutation carriers.
  Laitman Yael et al. Cancer 2018 Nov
• Health beliefs associated with readiness for genetic counseling among high risk breast cancer survivors.
  Reblin Maija et al. The breast journal 2018 Nov
• A Prospective Study of Circulating Tumor DNA to Guide Matched Targeted Therapy in Lung Cancers.
  Sabari Joshua K et al. Journal of the National Cancer Institute 2018 Nov
• A panel of noncoding RNAs in non-small-cell lung cancer.
  Bagheri Abouzar et al. Journal of cellular biochemistry 2018 Nov
• Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk.
  Terry Mary Beth et al. Journal of the National Cancer Institute 2018 Nov
• Using behaviour change and implementation science to address low referral rates in oncology.
  Long Janet C et al. BMC health services research 2018 Nov 18(1) 904
• Risk and prognostic factors for endometrial carcinoma after diagnosis of breast or Lynch-associated cancers-A population-based analysis.
  Johnatty Sharon E et al. Cancer medicine 2018 Nov

Ethical, Legal and Social Issues (ELSI)

• CRISPR/Cas9 gene-editing: Research technologies, clinical applications and ethical considerations.
  Memi Fani et al. Seminars in perinatology 2018 Oct
• The Ethics of Heritable Genome Editing-New Considerations in a Controversial Area
  Adashi EY et al, JAMA,December 3, 2018
• FDA takes new action to advance the development of reliable and beneficial genetic tests that can improve patient care
  FDA Press Release, December 4, 2018

General Practice

• Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale.
  Grant Peter E et al. European journal of medical genetics 2018 Nov
• Implementing Genomics-Based Screening Programs for Healthy Adults: A Proposed Evidence-based Approach from the Genomics and Population Health Action Collaborative
  Khoury MJ et al, Blog Post, December 3, 2018
• Towards a Regional Registry of Extended Typed Blood Donors: Molecular Typing for Blood Group, Platelet and Granulocyte Antigens.
  Portegys Jan et al. Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie 2018 Oct 45(5) 331-340
• Teaching Genomic Pathology: Translating Team-Based Learning to a Virtual Environment Using Computer-Based Simulation.
  Haspel Richard L et al. Archives of pathology & laboratory medicine 2018 Nov
• PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs.
  Yu Ying et al. Nucleic acids research 2018 Nov
• The value of genetic testing for family health history of adopted persons.
  May Thomas et al. Nature reviews. Genetics 2018 Nov
• A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults
  M. Murray and the Genomics and Population Health Action Collaborative, National Academies of Medicine, December 3, 2018

Heart, Lung, Blood and Sleep Diseases

• Family history of venous thromboembolism in the paediatric population: The need for a standardized definition.
  Hau Anna et al. Thrombosis research 2018 Nov 17391-95
• Gene therapy for sickle cell disease.
  Olowoyeye Abiola et al. The Cochrane database of systematic reviews 2018 Nov 11CD007652
• Genomics, microbiomics, proteomics, and metabolomics in bronchopulmonary dysplasia.
  Lal Charitharth Vivek et al. Seminars in perinatology 2018 Nov 42(7) 425-431
• The current state of sickle-cell trait: implications for reproductive and genetic counseling.
  Pecker Lydia H et al. Blood 2018 Nov
• Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia.
  Aref-Eshghi Erfan et al. BMC medical genetics 2018 Nov 19(1) 205

Newborn Screening

• Hunter Syndrome: Is It Time to Make It Part of Newborn Screening?
  Joseph Rachel et al. Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2018 Dec 18(6) 480-487

Pharmacogenomics

• Clinical Utility of Pharmacogenetic Testing and a Clinical Decision Support Tool to Enhance the Identification of Drug Therapy Problems Through Medication Therapy Management in Polypharmacy Patients.
  Kim Kibum et al. Journal of managed care & specialty pharmacy 2018 Dec 24(12) 1250-1259
• Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes.
  Gonsalves Stephen G et al. Clinical pharmacology and therapeutics 2018 Nov
• Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple DPYD Variants.
  Lunenburg Carin A T C et al. Genes 2018 Nov 9(12)
• Effectiveness and safety of reduced-dose fluoropyrimidine therapy in patients carrying the DPYD*2A variant: a matched pair analysis.
  Henricks Linda M et al. International journal of cancer 2018 Nov
• Impact of CYP2C9 and VKORC1 Polymorphisms on Warfarin Sensitivity and Responsiveness in Jordanian Cardiovascular Patients during the Initiation Therapy.
  Al-Eitan Laith N et al. Genes 2018 Nov 9(12)

Reproductive Health

• To test or not to test? A framework for counselling patients on preimplantation genetic testing for aneuploidy (PGT-A).
  Murphy Lauren A et al. Human reproduction (Oxford, England) 2018 Nov

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 & Health Impact Scan Database|Weekly Scan|PHGKB