Publication Date: Jan 30, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome.
Méndez-Rosado Luis A et al. Archivos argentinos de pediatria 2020 Feb 118(1) 52-55 - Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk.
Crawford Christopher A et al. Cardiology in the young 2020 Jan 1-8 - The evaluation of anxiety, depression and quality of life scores of children and adolescents with familial Mediterranean fever.
Sönmez Arzu Önal et al. Rheumatology international 2020 Jan - Childhood asthma in the new omics era: challenges and perspectives.
Golebski Korneliusz et al. Current opinion in allergy and clinical immunology 2020 Jan - A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).
Zöllner Johann Philipp et al. Orphanet journal of rare diseases 2020 Jan 15(1) 23 - Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.
Zelihic Deniz et al. European journal of medical genetics 2020 Jan 103856 - Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.
Velázquez-Pérez Luis et al. Cerebellum (London, England) 2020 Jan - Impacts of genomics on the health and social costs of intellectual disability.
Doble Brett et al. Journal of medical genetics 2020 Jan
Cancer
- Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
Waltz Margaret et al. Journal of genetic counseling 2020 Jan - Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
Konstantinopoulos Panagiotis A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jan JCO1902960 - Genetic Cancer Risk Assessment: a screenshot of the psychosocial profile of women at risk for Hereditary Breast and Ovarian Cancer Syndrome.
Campacci Natalia et al. Psycho-oncology 2020 Jan - Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy.
Olbryt Magdalena et al. Targeted oncology 2020 Jan - Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Drost Mark et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan - Family storytelling about hereditary cancer: Framing shared understandings of risk.
Campbell-Salome Gemme et al. Journal of genetic counseling 2020 Jan - Characteristics predicting recommendation for familial breast cancer referral in a cohort of women from primary care.
Lee Siang Ing et al. Journal of community genetics 2020 Jan - Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers.
Weidner Anne E et al. Cancer 2020 Jan - Multi-Target Stool DNA Testing for Colorectal Cancer Screening: Emerging Learning on Real-world Performance.
Eckmann Jason D et al. Current treatment options in gastroenterology 2020 Jan - Cancer patients' views and understanding of genome sequencing: a qualitative study.
Bartley Nicci et al. Journal of medical genetics 2020 Jan - Analysis of 108 patients with endometrial carcinoma using the PROMISE classification and additional genetic analyses for MMR-D.
Timmerman S et al. Gynecologic oncology 2020 Jan - SEOM clinical guideline on hereditary colorectal cancer (2019).
Guillén-Ponce C et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2020 Jan - Support of a molecular tumour board by an evidence-based decision management system for precision oncology.
Lamping Mario et al. European journal of cancer (Oxford, England : 1990) 2020 Jan 12741-51 - Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
Knerr Sarah et al. Journal of genetic counseling 2020 Jan - Genetic Testing in Prostate Cancer.
Sokolova Alexandra O et al. Current oncology reports 2020 Jan 22(1) 5 - Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience.
Rummel Seth K et al. Cancers 2020 Jan 12(1)
Chronic Disease
- Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study.
Foley Claire et al. The British journal of psychiatry : the journal of mental science 2020 Jan 1-5 - From Genetic Testing to Precision Medicine in Epilepsy.
Striano Pasquale et al. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2020 Jan - Lifestyle for the prevention of type 2 diabetes: what is the role of genetic risk information?
Chen Guo-Chong et al. The American journal of clinical nutrition 2020 Jan
Ethical, Legal and Social Issues (ELSI)
- Informed Consent for Genetic Testing in Autopsy.
Gatter Ken et al. Archives of pathology & laboratory medicine 2020 Jan - Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination.
Joly Yann et al. Annual review of genomics and human genetics 2020 Jan
General Practice
- Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou Ying-Chen Claire et al. Proceedings of the National Academy of Sciences of the United States of America 2020 Jan - Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing.
Thiebes Scott et al. Journal of medical Internet research 2020 Jan 22(1) e14890 - Addressing Disparities Will Advance Genomics, Precision Medicine,
by Jessica Kent, Health It Analytics, January 27, 2020 - The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese Mark et al. Nature communications 2020 Jan 11(1) 435
Heart, Lung, Blood and Sleep Diseases
- Polygenic Risk Scores in Coronary Artery Disease and Atrial Fibrillation.
Gladding Patrick A et al. Heart, lung & circulation 2019 Dec - Familial Hypercholesterolaemia in 2020: A Leading Tier 1 Genomic Application.
Pang Jing et al. Heart, lung & circulation 2019 Dec - Familial Dilated Cardiomyopathy.
Peters Stacey et al. Heart, lung & circulation 2019 Dec - Hospitalization rates among patients with cystic fibrosis using pancreatic enzyme replacement therapy.
Trapnell Bruce C et al. Chronic respiratory disease 171479973119900612 - Cell free DNA as a diagnostic and prognostic marker for cardiovascular diseases.
Polina Iuliia A et al. Clinica chimica acta; international journal of clinical chemistry 2020 Jan 503145-150 - Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.
Watts Gerald F et al. Nature reviews. Cardiology 2020 Jan
Newborn Screening
- Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.
Verma Jyotsna et al. Journal of pediatric intensive care 2020 Mar 9(1) 40-44
Pharmacogenomics
- Knowledge and attitudes on pharmacogenetics among pediatricians.
Rahawi Shahad et al. Journal of human genetics 2020 Jan - Pharmacogenetics in Practice: Estimating the Clinical Actionability of Pharmacogenetic Testing in Perioperative and Ambulatory Settings.
Smith D Max et al. Clinical and translational science 2020 Jan - Drug Use in Denmark for Drugs Having Pharmacogenomics (PGx) Based Dosing Guidelines from CPIC or DPWG for CYP2D6 and CYP2C19 Drug-Gene Pairs: Perspectives for Introducing PGx Test to Polypharmacy Patients.
Westergaard Niels et al. Journal of personalized medicine 2020 Jan 10(1)
Reproductive Health
- Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer.
Friedenthal Jenna et al. European journal of medical genetics 2020 Jan 103852 - Exploring patient and provider perspectives on the intersection between fertility, genetics, and family building.
Lake Paige W et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2020 Jan - Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.
Kodabuckus Shahela S et al. Fetal diagnosis and therapy 2020 Jan 1-11 - Prognostic role of preimplantation genetic testing for aneuploidy in medically indicated fertility preservation.
Blakemore Jennifer K et al. Fertility and sterility 2020 Jan - The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations.
Pasternak Yael 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 2020 Jan 1-5
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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