Publication Date: Oct 24, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force.
Southall Noel T et al. Orphanet journal of rare diseases 2019 Oct 14(1) 225 - Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?
Liu Zhichao et al. Trends in genetics : TIG 2019 Oct - Clinical Diagnostic Exome Sequencing in Dystonia: Genetic Testing Challenges for Complex Conditions.
Powis Zöe et al. Clinical genetics 2019 Oct - Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
Homma Thais Kataoka et al. The Journal of pediatrics 2019 Oct - Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic Jelena Ruml et al. Journal of child neurology 2019 Oct 883073819879835
Cancer
- Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management.
Tischler Jonah et al. Annals of internal medicine 2019 Oct - Decision Making About Genetic Testing Among Women With a Personal and Family History of Breast Cancer.
Scott Danika et al. Journal of oncology practice 2019 Oct JOP1900221 - Cost-effectiveness of Active Identification and Subsequent Colonoscopy Surveillance of Lynch Syndrome Cases.
Peterse Elisabeth F P et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Oct - Ethnic disparities among men with prostate cancer undergoing germline testing.
Kwon Daniel Hyuck-Min et al. Urologic oncology 2019 Oct - Prostate cancer genetic testing: NCCN familial high-risk assessment: breast/ovarian.
Daly Mary B et al. The Canadian journal of urology 2019 Oct 26(5S2) 29-30 - The prognostic value of long noncoding RNA SNHG16 on clinical outcomes in human cancers: a systematic review and meta-analysis.
Zhang Chenghao et al. Cancer cell international 2019 19261 - Clinical factors associated with urinary tract cancer in individuals with Lynch syndrome.
Wischhusen Jonathan W et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Oct - Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
MD Valentin et al, Hereditary Cancer in Clinical Practice, October 2019 - Introduction to the 2019 Philadelphia Prostate Cancer Consensus Program: 'Implementation of Genetic Testing for Inherited Prostate Cancer'.
Gomella Leonard G et al. The Canadian journal of urology 2019 Oct 26(5S2) 1-4
Chronic Disease
- Predictive genetic biomarkers for the efficacy of methotrexate in rheumatoid arthritis: a systematic review.
Eektimmerman Frank et al. The pharmacogenomics journal 2019 Oct - A pharmacogenetic risk score for the evaluation of major depression severity under treatment with antidepressants.
Kanders Sofia H et al. Drug development research 2019 Oct
Ethical, Legal and Social Issues (ELSI)
- Engaging research ethics committees to develop an ethics and governance framework for best practices in genomic research and biobanking in Africa: the H3Africa model.
Tindana Paulina et al. BMC medical ethics 2019 Oct 20(1) 69 - Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing.
Stoll Katie et al. Cold Spring Harbor perspectives in medicine 2019 Oct
General Practice
- Genetics professionals' experiences of facilitating parent/child communication through the genetic clinic.
Keenan Karen F et al. Journal of genetic counseling 2019 Oct - Alternate delivery models for genetic counseling: clinical and implementation considerations.
Rahm Alanna Kulchak et al. The Canadian journal of urology 2019 Oct 26(5S2) 42-43
Heart, Lung, Blood and Sleep Diseases
- Predicting intention to participate in self-management behaviors in patients with Familial Hypercholesterolemia: A cross-national study.
Hagger Martin S et al. Social science & medicine (1982) 2019 Oct 242112591 - Hereditary angioedema: a prospective study of a Brazilian single-center cohort.
Alonso Maria L O et al. International journal of dermatology 2019 Oct - Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.
Warnink-Kavelaars Jessica et al. European journal of pediatrics 2019 Oct - A genetic risk score predicts recurrent events after myocardial infarction in young adults.
Rincón Luis M et al. Revista espanola de cardiologia (English ed.) 2019 Oct
Newborn Screening
- Factors affecting the growth of infants diagnosed with cystic fibrosis by newborn screening.
Patterson K D et al. BMC pediatrics 2019 Oct 19(1) 356 - Informing New Mothers about Newborn Screening Bloodspot Repositories during Postpartum Hospitalization.
Newcomb Patricia et al. MCN. The American journal of maternal child nursing 44(6) 332-337 - Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
van der Burg Mirjam et al. Frontiers in pediatrics 2019 7373 - New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Wang Benjing et al. Frontiers in genetics 2019 10811
Pharmacogenomics
- The Impact of CYP3A4*22 on Tacrolimus Pharmacokinetics and Outcome in Clinical Practice at a Single Kidney Transplant Center.
Abdel-Kahaar Emaad et al. Frontiers in genetics 2019 10871 - Utilizing a user-centered approach to develop and assess pharmacogenomic clinical decision support for thiopurine methyltransferase.
Nguyen Khoa A et al. BMC medical informatics and decision making 2019 Oct 19(1) 194 - The Three Ps: Psychiatry, Pharmacy, and Pharmacogenomics, a Brief Report From New Zealand.
Maggo Simran D S et al. Frontiers in psychiatry 2019 10690
Reproductive Health
- Current landscape of prenatal genetic screening and testing.
Krstic Nevena et al. Birth defects research 2019 Oct - Male factor infertility impacts the rate of mosaic blastocysts in cycles of preimplantation genetic testing for aneuploidy.
Tarozzi Nicoletta et al. Journal of assisted reproduction and genetics 2019 Oct - The impact of preimplantation genetic testing on prenatal diagnostic procedures.
Gulersen Moti et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Oct 1-4 - State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study.
Hui Lisa et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Oct - Screening of Fetal Chromosomal Aneuploidy by Noninvasive Prenatal Testing: From Innovation to Setting Public Health Agendas to Potential Impact on Other Fields.
Dennis Lo Y M et al. Clinical chemistry 2019 Oct
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.
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