Publication Date: Oct 8, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- (Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada.
Michaels-Igbokwe Christine et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep - Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single exon 10 mutation in childhood.
Aydin Fatma et al. Rheumatology international 2020 Oct - Prediction of the Age at Onset of Spinocerebellar Ataxia Type 3 with Machine Learning.
Peng Linliu et al. Movement disorders : official journal of the Movement Disorder Society 2020 Sep
Cancer Genomics
- Detection of EGFR Mutations Using Bronchial Washing-Derived Extracellular Vesicles in Patients with Non-Small-Cell Lung Carcinoma.
Park Juhee et al. Cancers 2020 Sep 12(10) - Clinical and Genome-Wide Analysis of Multiple Severe Cisplatin-Induced Neurotoxicities in Adult-Onset Cancer Survivors.
Trendowski Matthew R et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Sep - A 13-immune gene set signature for prediction of colon cancer prognosis.
Lu Zhuo et al. Combinatorial chemistry & high throughput screening 2020 Sep - Extensive heterogeneity in somatic mutation and selection in the human bladder.
Lawson Andrew R J et al. Science (New York, N.Y.) 2020 Oct 370(6512) 75-82 - Clinical Validation of a Urine Test (Uromonitor-V2 ® ) for the Surveillance of Non-Muscle-Invasive Bladder Cancer Patients.
Sieverink Caroline A et al. Diagnostics (Basel, Switzerland) 2020 Sep 10(10) - Targeted next-generation sequencing assays using triplet samples of normal breast tissue, primary breast cancer, and recurrent/metastatic lesions.
Akahane Toshiaki et al. BMC cancer 2020 Oct 20(1) 944 - Incorporating genomic signatures into surgical and medical decision-making for elderly glioblastoma patients.
Ene Chibawanye I et al. Neurosurgical focus 2020 Oct 49(4) E11 - KRAS mutation status concordance between the primary tumor and the corresponding metastasis in patients with rectal cancer.
Jo Peter et al. PloS one 2020 15(10) e0239806 - Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.
Zivanovic Bujak Andjelija et al. PLoS medicine 2020 Oct 17(10) e1003363 - Additional genetic alterations in BRAF-mutant gliomas correlate with histologic diagnoses.
Dono Antonio et al. Journal of neuro-oncology 2020 Oct
Hereditary Cancer
- Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1 / BRCA2 .
Barbosa Ana et al. Cancers 2020 Sep 12(10) - Implementation of Universal Colorectal Cancer Screening for Lynch Syndrome in Hispanics Living in Puerto Rico.
Sierra Isabel et al. Journal of racial and ethnic health disparities 2020 Oct - Rapid Genetic Testing for BRCA1 and BRCA2 Mutations at the Time of Breast Cancer Diagnosis: An Observational Study.
Metcalfe Kelly A et al. Annals of surgical oncology 2020 Sep - FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.
Holland Elizabeth A et al. Familial cancer 2020 Sep - Clinicopathological Features and Outcomes in Individuals with Breast Cancer and ATM, CHEK2, or PALB2 Mutations.
Bergstrom Colin et al. Annals of surgical oncology 2020 Sep - Young women's decision-making and experience of using tamoxifen to reduce BRCA1/2 breast cancer risk: a qualitative study.
Forrest Laura E et al. Psycho-oncology 2020 Oct - Development of a plain-language guide for discussing breast cancer genetic counseling and testing with patients with limited health literacy.
van der Giessen J A M et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2020 Oct - Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome.
Hadley Donald W et al. Scientific reports 2020 Sep 10(1) 15959 - The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.
Schwartz Marci L B et al. Patient education and counseling 2020 Sep - BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.
Lynce Filipa et al. Journal of genetic counseling 2020 Oct
Chronic Disease
- Protocol for a multicentre, prospective cohort study of clinical, proteomic and genomic patterns associated with osteoporosis to develop a multidimensional fracture assessment tool: the PoCOsteo Study.
Khashayar Patricia et al. BMJ open 2020 Sep 10(9) e035363 - Short or Long Sleep Duration and CKD: A Mendelian Randomization Study.
Park Sehoon et al. Journal of the American Society of Nephrology : JASN 2020 Oct - Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases.
Quinn Colin et al. Continuum (Minneapolis, Minn.) 2020 Oct 26(5) 1323-1347
General Practice
- Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.
Patrinos George P et al. American journal of human genetics 2020 Oct 107(4) 589-595 - Knowing, relationships and trust-citizens' perceptions of whole genome sequencing for the Genetics Clinic of the Future.
Schumann Simone et al. Journal of community genetics 2020 Sep - Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Bowling Kevin M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep - "They're Not Going to Do Nothing for Me": Research Participants' Attitudes towards Elective Genetic Counseling.
Sutton Erica J et al. Journal of personalized medicine 2020 Sep 10(4) - Can a Lifestyle Genomics Intervention Motivate Patients to Engage in Greater Physical Activity than a Population-Based Intervention? Results from the NOW Randomized Controlled Trial.
Horne Justine R et al. Lifestyle genomics 2020 Oct 1-7 - Positive and negative professionalism experiences of genetic counseling students in the United States and Canada.
Aamodt Pauline et al. Journal of genetic counseling 2020 Oct - Copy number alterations involving 59 ACMG-recommended secondary findings genes.
Yatsenko Svetlana A et al. Clinical genetics 2020 Oct
Newborn Screening
- Qualitative exploration of health professionals' experiences of communicating positive newborn bloodspot screening results for nine conditions in England.
Chudleigh Jane et al. BMJ open 2020 Oct 10(10) e037081
Pharmacogenomics
- Challenges and Opportunities in Implementing Pharmacogenetic Testing in Clinical Settings.
Chang Wan-Chun et al. Annual review of pharmacology and toxicology 2020 Oct - Pharmacogenomics, concepts for the future of perioperative medicine and pain management: A review.
Kaye Alan D et al. Best practice & research. Clinical anaesthesiology 2020 Sep 34(3) 651-662 - Improving the Care of Older Patients by Decreasing Potentially Inappropriate Medications, Potential Medication Omissions, and Serious Drug Events Using Pharmacogenomic Data about Variability in Metabolizing Many Medications by Seniors.
Thomas Roger E et al. Geriatrics (Basel, Switzerland) 2020 Sep 5(4)
Reproductive Health
- Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen.
Carlotti Katherine et al. Journal of genetic counseling 2020 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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