Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Genomics & Health Impact Scan Database|Weekly Scan|PHGKB

Publication Date: Jan 17, 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

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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
• News/ Reviews/Comments
• Event

Birth Defects and Child Health

• Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
  Jang Woori et al. Annals of laboratory medicine 2019 May 39(3) 299-310
• Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
  Han Ji Yoon et al. Frontiers in pediatrics 2018 6391
• Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
  Li Shantao et al. The New England journal of medicine 2019 Jan 380(2) 200

Cancer

• Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
  Brandão Rita D et al. International journal of cancer 2019 Jan
• Results of PONDx, a prospective multicenter study of the Oncotype DX ® breast cancer assay: Real-life utilization and decision impact in French clinical practice.
  Curtit Elsa et al. Breast (Edinburgh, Scotland) 2019 Jan 4439-45
• Mutational profile of colorectal cancer lung metastases and paired primary tumors by targeted next generation sequencing: implications on clinical outcome after surgery.
  Schweiger Thomas et al. Journal of thoracic disease 2018 Nov 10(11) 6147-6157
• Are BRCA1 and BRCA2 gene mutation patients underscreened for pancreatic adenocarcinoma?
  Roch Alexandra M et al. Journal of surgical oncology 2019 Jan
• Three inflammation-related genes could predict risk in prognosis and metastasis of patients with breast cancer.
  Zhao Shuangtao et al. Cancer medicine 2019 Jan
• Predicting EGFR Mutation Status in Lung Adenocarcinoma on CT Image Using Deep Learning.
  Wang Shuo et al. The European respiratory journal 2019 Jan
• Effect of a Collaboration Between a Health Plan, Oncology Practice, and Comprehensive Genomic Profiling Company from the Payer Perspective.
  Reitsma Mitchell et al. Journal of managed care & specialty pharmacy 2019 Jan 1-10
• The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
  Kim Hakyoung et al. Hereditary cancer in clinical practice 2019 171
• Epigenomic promoter alterations predict for benefit from immune checkpoint inhibition in metastatic gastric cancer.
  Sundar R et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 Jan

Chronic Disease

• Efficacy of Integrating a Novel 16-Gene Biomarker Panel and Intelligence Classifiers for Differential Diagnosis of Rheumatoid Arthritis and Osteoarthritis.
  Long Nguyen Phuoc et al. Journal of clinical medicine 2019 Jan 8(1)
• Change in Prevalence of Family History During Long-term Follow-up of Pediatric-onset Inflammatory Bowel Disease Patients.
  Capone Kristin et al. Journal of pediatric gastroenterology and nutrition 2019 Jan

Ethical, Legal and Social Issues (ELSI)

• Return of individual genomic research results: are laws and policies keeping step?
  Thorogood Adrian et al. European journal of human genetics : EJHG 2019 Jan

General Practice

• Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners.
  Dwarte Tanya et al. Journal of genetic counseling 2018 Dec
• Patients' perspectives of variants of uncertain significance and strategies for uncertainty management.
  Makhnoon Sukh et al. Journal of genetic counseling 2019 Jan
• Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good 
  E Brodwin, Business Insider, January 7, 2019
• Core competencies in genetics for healthcare professionals: results from a literature review and a Delphi method.
  Tognetto Alessia et al. BMC medical education 2019 Jan 19(1) 19
• Genetic counselor workflow study: The times are they a-changin'?
  Attard Courtney A et al. Journal of genetic counseling 2018 Dec
• Use of generic medicines in Latvia: awareness, opinions and experiences of the population.
  Salmane Kulikovska Ieva et al. Journal of pharmaceutical policy and practice 2019 121

Heart, Lung, Blood and Sleep Diseases

• Toward Precision Policy - The Case of Cardiovascular Care.
  Wadhera Rishi K et al. The New England journal of medicine 2018 Dec 379(23) 2193-2195
• "I didn't take it too seriously because I'd just never heard of it": Experiential knowledge and genetic screening for thalassaemia in the UK.
  Boardman Felicity K et al. Journal of genetic counseling 2018 Dec
• Self-management recommendations for sickle cell disease: A Ghanaian health professionals' perspective.
  Druye Andrews et al. Health science reports 2018 Nov 1(11) e88
• Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?
  da Costa Cláudia Henrique et al. BMC research notes 2019 Jan 12(1) 10
• Burden of Sickle Cell Disease in Ghana: The Korle-Bu Experience.
  Asare Eugenia V et al. Advances in hematology 2018 20186161270

Newborn Screening

• Recognizing 50 Years of Innovative Newborn Screening in North Carolina.
  Turner Lou F et al. North Carolina medical journal 80(1) 45-48
• Lessons Learned from Newborn Screening in Pilot Studies.
  Taylor Jennifer L et al. North Carolina medical journal 80(1) 54-58
• What is Newborn Screening?
  Powell Cynthia M et al. North Carolina medical journal 80(1) 32-36
• Newborn Screening Policy Decisions: Adding Conditions.
  Shone Scott M et al. North Carolina medical journal 80(1) 42-44
• The Role of the Genetic Counselor in Newborn Screening.
  Marcus Gail et al. North Carolina medical journal 80(1) 39-40
• The Future of Newborn Screening: Why and How Partnerships Will Be Needed for Success.
  Bailey Donald B et al. North Carolina medical journal 80(1) 28-31
• Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
  Navarrete Rosa et al. European journal of human genetics : EJHG 2019 Jan

Pharmacogenomics

• The Effect of Polymorphism in UGT1A4 on Clinical Outcomes of Adjuvant Tamoxifen Therapy for Patients With Breast Cancer in China.
  Lan Bo et al. Clinical breast cancer 2018 Dec
• Validation of a clinical pharmacogenetic model to predict methotrexate nonresponse in rheumatoid arthritis patients.
  Eektimmerman Frank et al. Pharmacogenomics 2019 Jan
• Tolerance-based capecitabine dose escalation after DPYD genotype-guided dosing in heterozygote DPYD variant carriers: a single-center observational study.
  Kleinjan Jan P et al. Anti-cancer drugs 2019 Jan

Reproductive Health

• Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.
  Reumkens Kelly et al. Journal of genetic counseling 2018 Dec
• Patient decision-making and the role of the prenatal genetic counselor: An exploratory study.
  Salema Diane et al. Journal of genetic counseling 2018 Dec
• Impact of preimplantation genetic testing for aneuploidy on obstetrical practice.
  Chan Yiu-Man et al. Current opinion in obstetrics & gynecology 2019 Jan
• Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
  Heijligers Malou et al. Journal of assisted reproduction and genetics 2018 Nov 35(11) 1995-2002
• Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.
  Yadava Stacy M et al. Journal of genetic counseling 2018 Dec
• The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access.
  Birko Stanislav et al. BMC pregnancy and childbirth 2019 Jan 19(1) 22
• Noninvasive screening by cell-free DNA for 22q11.2 deletion: Benefits, limitations, and challenges.
  Grati Francesca Romana et al. Prenatal diagnosis 2019 Jan

News/ Reviews/Comments

• Public Comment on Draft Recommendation Statement and Draft Evidence Review: Medication Use to Reduce Risk of Breast Cancer
  U.S.Preventive Services Task Force, January 2019

Event

• Telegenetics and Its Implementation in Cancer Genetic Counseling
  January 30, 2019, 12:00-1:00pm EST

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.