Publication Date: Apr 9, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Benson Katherine A et al. European journal of human genetics : EJHG 2020 Apr - Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.
Kotwal Huafrin et al. Journal of genetic counseling 2020 Apr - Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Kim Tae Hyeong et al. European journal of medical genetics 2020 Mar 103921 - Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
Cancer
- Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
Tung Nadine M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Apr JCO2000299 - Calculating Starting Age for Screening in Relatives of Patients With Colorectal Cancer Based on Data From Large Nationwide Datasets.
Tian Yu et al. Gastroenterology 2020 Apr - Pembrolizumab for management of patients with NSCLC and brain metastases: long-term results and biomarker analysis from a non-randomised, open-label, phase 2 trial.
Goldberg Sarah B et al. The Lancet. Oncology 2020 Apr - Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer.
Lamba Mehul et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 Mar - Molecular risk prediction in cutaneous melanoma: a meta-analysis of the 31-gene expression profile prognostic test in 1,479 patients.
Greenhaw Bradley N et al. Journal of the American Academy of Dermatology 2020 Mar - Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
Engel Christoph et al. International journal of cancer 2020 146(4) 999-1009 - Blood Free-Circulating DNA Testing of Methylated RUNX3 Is Useful for Diagnosing Early Gastric Cancer.
Hideura Eizaburou et al. Cancers 2020 Mar 12(4) - Circulating tumour DNA alterations as biomarkers for head and neck cancer: a systematic review.
Pall Amalie Hartvig et al. Acta oncologica (Stockholm, Sweden) 2020 Mar 1-6 - An integrated prognosis model of pharmacogenomic gene signature and clinical information for diffuse large B-cell lymphoma patients following CHOP-like chemotherapy.
Hu Jinglei et al. Journal of translational medicine 2020 Mar 18(1) 144 - Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
Roberts Maegan E et al. Journal of genetic counseling 2020 Mar
Chronic Disease
- Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
Oriolo C et al. Journal of endocrinological investigation 2020 Mar - Understanding Participation in Genetic Research Among Patients With Multiple Sclerosis: The Influences of Ethnicity, Gender, Education, and Age.
Cuccaro Michael L et al. Frontiers in genetics 2020 11120 - From Polygenic Scores to Precision Medicine in Alzheimer's Disease: A Systematic Review.
Harrison Judith R et al. Journal of Alzheimer's disease : JAD 2020 Mar
Ethical, Legal and Social Issues (ELSI)
- Attitudes towards genetic testing and information: does parenthood shape the views?
Saastamoinen Antti et al. Journal of community genetics 2020 Apr - Enhancing inclusion of diverse populations in genomics: A competence framework.
Sharif Saghira M et al. Journal of genetic counseling 2020 Apr 29(2) 282-292 - Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.
Torrorey-Sawe Rispah et al. Frontiers in genetics 2020 11170 - Framing utility: Regulatory reform and genetic tests in the USA, 1989-2000.
Sturdy Steve et al. Social science & medicine (1982) 2020 Mar 112924
General Practice
- Payer Preferences and Willingness to Pay for Genomic Precision Medicine: A Discrete Choice Experiment.
Dhanda Devender S et al. Journal of managed care & specialty pharmacy 2020 Apr 26(4) 529-537 - Efforts of diversity and inclusion, cultural competency, and equity in the genetic counseling profession: A snapshot and reflection.
Channaoui Nadine et al. Journal of genetic counseling 2020 Apr 29(2) 166-181 - Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors.
Channaoui Nadine et al. Journal of genetic counseling 2020 Apr 29(2) 192-201 - Electronic health records and polygenic risk scores for predicting disease risk.
Li Ruowang et al. Nature reviews. Genetics 2020 Mar - Genomics knowledge and attitudes among European public health professionals: Results of a cross-sectional survey.
Rosso Annalisa et al. PloS one 2020 15(4) e0230749 - Assessing the availability and quality of Spanish-language genetic resources for patients on the internet.
Westrate Libby et al. Journal of genetic counseling 2020 Mar
Heart, Lung, Blood and Sleep Diseases
- Familial hypercholesterolemia and COVID-19: triggering of increased sustained cardiovascular risk.
Vuorio Alpo et al. Journal of internal medicine 2020 Apr - Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants.
Villarreal-Martínez Laura et al. Blood cells, molecules & diseases 2020 Mar 83102423 - Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Coban-Akdemir Zeynep H et al. American journal of medical genetics. Part A 2020 Mar - Genetic testing in Polynesian Long QT Syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.
Winbo Annika et al. Heart rhythm 2020 Mar - The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine.
Januska Megan N et al. Journal of genetic counseling 2020 Mar - Is family history of coronary artery disease important in the emergency department triage?
Mor Saban et al. International emergency nursing 2020 Mar 100855
Newborn Screening
- Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.
Sontag Marci K et al. PloS one 2020 15(4) e0231050 - Assessing the newborn screening education needs of families living in medically underserved areas.
Evans Adrianna et al. Journal of genetic counseling 2020 Mar
Pharmacogenomics
- Pharmacogenomic-Based Decision-Support to Predict Adherence to Medications.
Christian Carlton et al. Clinical pharmacology and therapeutics 2020 Mar - Pharmacogenomics of Antidepressant and Antipsychotic Treatment: How Far Have We Got and Where Are We Going?
van Westrhenen Roos et al. Frontiers in psychiatry 2020 1194 - Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar Sylvan M et al. International journal of molecular sciences 2020 Mar 21(7) - A Continuing Professional Development Program for Pharmacists Implementing Pharmacogenomics into Practice.
Crown Natalie et al. Pharmacy (Basel, Switzerland) 2020 Mar 8(2)
Reproductive Health
- Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.
Rocca Maria Santa et al. Journal of assisted reproduction and genetics 2020 Apr
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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