Publication Date: Nov 7, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Biomarkers for Autism Spectrum Disorders (ASD): A Meta-analysis.
Ansel Ashley et al. Rambam Maimonides medical journal 2019 Oct 10(4) - Family History Taking in Pediatric Practice: A Qualitative Interview Study.
Tessier Laure et al. Public health genomics 2019 Oct 1-9 - Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary Dara et al. JAMA network open 2019 Oct 2(10) e1914274
Cancer
- Should you repeat mismatch repair testing in tumour recurrences? An evaluation of repeat mismatch repair testing by immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts.
Aird John J et al. Histopathology 2019 Nov - Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study.
Conley Claire C et al. Annals of surgical oncology 2019 Nov - Factors associated with oncologist discussions of the costs of genomic testing and related treatments.
Yabroff K Robin et al. Journal of the National Cancer Institute 2019 Nov - Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.
Goggins Michael et al. Gut 2019 Oct - Universal Testing to Identify Lynch Syndrome Among Women With Newly Diagnosed Endometrial Carcinoma.
Cameron Anna et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2019 Oct - Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population.
Ito Tetsuya et al. Japanese journal of clinical oncology 2019 Oct - Ready, get set, go: Fast preoperative genetic diagnosis is the present future in Lynch syndrome surgical strategy.
Piozzi Guglielmo Niccolò et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019 Oct - Comparative Effectiveness of Two Interventions to Increase Colorectal Cancer Screening for those at Increased Risk Based on Family History: Results of a Randomized Trial.
Paskett Electra D 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 - Comparison of 21-gene assay and St.Gallen International Expert Consensus in the treatment decision for patients with early invasive breast cancers.
Luo Ming et al. Cancer biology & therapy 2019 Oct 1-5 - Identification of prognostic biomarker in predicting hepatocarcinogenesis from cirrhotic liver using protein and gene signatures.
Yim Sun Young et al. Experimental and molecular pathology 2019 Oct 104319
Chronic Disease
- Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism ?
Coppin Lucie et al. European journal of endocrinology 2019 Oct - High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux Marguerite et al. Kidney international 2019 Sep - Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.
Alcalay Roy N et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov
Ethical, Legal and Social Issues (ELSI)
- The law of genetic privacy: applications, implications, and limitations.
Clayton Ellen Wright et al. Journal of law and the biosciences 2019 Oct 6(1) 1-36 - Disclosure of Genetic Results to At-risk Relatives without Consent: Issues for Health Care Professionals in Australia.
McWhirter Rebekah et al. Journal of law and medicine 2019 Oct 27(1) 108-121 - A framework for tiered informed consent for health genomic research in Africa.
Nembaware Victoria et al. Nature genetics 2019 Oct
General Practice
- Validity evaluation of the genetics and genomics in nursing practice survey.
Plavskin Alexandra et al. Nursing open 2019 Oct 6(4) 1404-1413 - Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge.
Pal Lipika R et al. Human mutation 2019 Nov - An Electronic Strategy for Eliminating Unnecessary Duplicate Genetic Testing.
Riley Jacquelyn D et al. American journal of clinical pathology 2019 Oct
Heart, Lung, Blood and Sleep Diseases
- Paradigm shift for the treatment of hereditary haemophilia: Towards precision medicine.
Spadarella Gaia et al. Blood reviews 2019 Oct 100618 - Baseline and on-statin treatment lipoprotein(a) levels for predicting cardiovascular events in patients with familial hypercholesterolemia.
Cao Ye-Xuan et al. Atherosclerosis 2019 Oct 29127-33 - Diagnostic, Prognostic, and Therapeutic Potencies of Circulating miRNAs in Acute Myocardial Infarction.
Mirzavi Farshad et al. Critical reviews in eukaryotic gene expression 2019 29(4) 333-342 - Clinical and genetic differences between heterozygous familial hypercholesterolemia patients with and without type 2 diabetes.
Climent Elisenda et al. Revista espanola de cardiologia (English ed.) 2019 Oct - Genetic risk scores to predict the prognosis of chronic heart failure patients in Chinese Han.
Li Shiyang et al. Journal of cellular and molecular medicine 2019 Oct - Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
Castellani Carlo et al. Seminars in respiratory and critical care medicine 2019 Nov - Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices.
Neuner Joan et al. Journal of general internal medicine 2019 Oct - The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.
Blaauwgeers Maaike W et al. American journal of hematology 2019 Oct
Newborn Screening
- Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.
Held Patrice K et al. Public health reports (Washington, D.C. : 1974) 134(2_suppl) 58S-63S - Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.
Skov Marianne et al. Pediatric pulmonology 2019 Nov - Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda Andrea et al. Molecular genetics & genomic medicine 2019 Oct e1016
Pharmacogenomics
- Pharmacogenomics and OUD: Clinical Decision Support in an African American Cohort.
Ettienne Earl B et al. Journal of the National Medical Association 2019 Oct
Reproductive Health
- Expanded carrier screening: counseling and considerations.
Sparks Teresa N et al. Human genetics 2019 Nov - Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies.
Chen Min et al. Prenatal diagnosis 2019 Oct - Psychological and social consequences of non-invasive prenatal testing (NIPT): a scoping review.
Labonté Valérie et al. BMC pregnancy and childbirth 2019 Oct 19(1) 385 - Impact of Early Diagnosis and Non-Invasive Prenatal Testing (NIPT): Knowledge, Attitudes, and Experiences of Parents of Children with Sex Chromosome Aneuploidies (SCAs).
Samango-Sprouse Carole A et al. Prenatal diagnosis 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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