Publication Date: May 16, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients.
Paquin Ryan S et al. Orphanet journal of rare diseases 2019 May 14(1) 102 - An update on the genetics of ocular coloboma.
ALSomiry Aisha S et al. Human genetics 2019 May - Protocol for a scoping review of multi-omic analysis for rare diseases.
Kerr Katie et al. BMJ open 2019 May 9(5) e026278 - The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.
Saade Dimah N et al. Seminars in pediatric neurology 2019 Apr 2944-54 - Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.
Adlington Katherine et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019 May - Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner Dieter et al. Nature reviews. Nephrology 2019 May
Cancer
- Accuracy in risk understanding among BRCA1/2-mutation carriers.
Speiser Dorothee et al. Patient education and counseling 2019 May - Implementing a Population-Based Breast Cancer Risk Assessment Program.
Silver Erica et al. Clinical breast cancer 2019 Mar - Multidisciplinary interventions in a specialist Drug Development Unit to improve family history documentation and onward referral of patients with advanced cancer to cancer genetics services.
Moss Cathryn A et al. European journal of cancer (Oxford, England : 1990) 2019 May 11497-106 - Clinicians' Role in the Adoption of an Oncology Decision Support App in Europe and Its Implications for Organizational Practices: Qualitative Case Study.
Jacob Christine et al. JMIR mHealth and uHealth 2019 May 7(5) e13555 - Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.
Nicolussi Arianna et al. PeerJ 2019 7e6661 - Lifestyle and cancer incidence and mortality risk depending on family history of cancer in two prospective cohorts.
Drake Isabel et al. International journal of cancer 2019 May - Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.
Vos Janet R et al. Journal of the National Cancer Institute 2019 May - Toward automatic prediction of EGFR mutation status in pulmonary adenocarcinoma with 3D deep learning.
Zhao Wei et al. Cancer medicine 2019 May - Understanding BRCA Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk.
Hovick Shelly R et al. Journal of health communication 2019 May 1-8
Chronic Disease
- HLA-DQ Typing Kits in Diagnosis and Screening for Celiac Disease.
Rouvroye Maxine D et al. Genetic testing and molecular biomarkers 2019 May - The influence of BRCA variants of unknown significance on cancer risk management decision-making.
Chern Jing Yi et al. Journal of gynecologic oncology 2019 Feb
Ethical, Legal and Social Issues (ELSI)
- Fostering a Prevention Mindset for Responsible Gene Editing.
Meagher Karen M et al. Accountability in research 2019 May - Direct-to-Consumer Genetic Testing Data Privacy: Key Concerns and Recommendations Based on Consumer Perspectives.
Hendricks-Sturrup Rachele M et al. Journal of personalized medicine 2019 May 9(2) - Attitudes Toward Genetics and Genetic Testing Among Participants in the Jackson and Framingham Heart Studies.
Saylor Katherine W et al. Journal of empirical research on human research ethics : JERHRE 2019 May 1556264619844851 - How Uncertainty Influences Lay People's Attitudes and Risk Perceptions Concerning Predictive Genetic Testing and Risk Communication.
Wöhlke Sabine et al. Frontiers in genetics 2019 10380 - Are we ready to genetically modify a human embryo? Or is it too late to ask?
Matthews Kirstin Rw et al. Accountability in research 2019 May - Genomics breeds new legal questions.
Couzin-Frankel Jennifer et al. Science (New York, N.Y.) 2019 364(6440) 521 - Attitudes and experiences regarding genetic research among persons of African descent.
Scott Denise M et al. Journal of community genetics 2019 May
General Practice
- A longitudinal big data approach for precision health.
Schüssler-Fiorenza Rose Sophia Miryam et al. Nature medicine 2019 May 25(5) 792-804 - "Omics" Education in Dietetic Curricula: A Comparison between Two Institutions in the USA and Mexico.
VanBuren Christine et al. Lifestyle genomics 2019 May 1-11 - The Impact of Genetic Counseling Educational Tools on Patients' Knowledge of Molecular Testing Terminology.
McDaniels Brianna A et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 May
Heart, Lung, Blood and Sleep Diseases
- Development of a Genetic Score to Predict an Increase in HDL Cholesterol Concentration After a Dietary Intervention in Adults with Metabolic Syndrome.
Guevara-Cruz Martha et al. The Journal of nutrition 2019 May - Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.
Downes Kate et al. Blood 2019 May - A clinical, proteomics, and artificial intelligence-driven model to predict acute kidney injury in patients undergoing coronary angiography.
Ibrahim Nasrien E et al. Clinical cardiology 2019 Feb 42(2) 292-298
Newborn Screening
- A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Wiens Katie et al. American journal of medical genetics. Part A 2019 May - Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki Ken et al. Journal of human genetics 2019 May
Pharmacogenomics
- Implementation of an Active-Learning Laboratory on Pharmacogenetics.
Powers Kacie E et al. American journal of pharmaceutical education 2019 Apr 83(3) 6605 - Pharmacogenetics of Sertraline Tolerability and Response in Pediatric Anxiety and Depressive Disorders.
Poweleit Ethan A et al. Journal of child and adolescent psychopharmacology 2019 May - Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2019 May - Pharmacogenetics of Warfarin in a Diverse Patient Population.
Mak May et al. Journal of cardiovascular pharmacology and therapeutics 2019 May 1074248419843530
Reproductive Health
- Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy.
Xu Yong et al. Expert review of molecular diagnostics 2019 May 1-6
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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