Publication Date: Jun 11, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.
Alharbi Fahad J et al. Clinica chimica acta; international journal of clinical chemistry 2020 Jan 500120-127 - Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro Marta et al. Acta ophthalmologica 2020 Jun - "It wasn't just for me": Motivations and implications of genetic testing for women at a low risk of hereditary breast and ovarian cancer syndrome.
Gill Gulvir et al. Psycho-oncology 2020 Jun - Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Okano Tsubasa et al. Journal of clinical immunology 2020 Jun - Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142 - Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo J et al. Journal of human genetics 2020 Jun - WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.
Kumar Mukesh et al. Scientific reports 2020 Jun 10(1) 9037
Cancer
- Contralateral breast cancer and tumor recurrence in BRCA1/2 carriers and non-carriers at a high risk of hereditary breast cancer after bilateral mastectomy.
Allué Cabañuz Marta et al. Cirugia espanola 2020 Jun - Estimating the costs of genomic sequencing in cancer control.
Gordon Louisa G et al. BMC health services research 2020 Jun 20(1) 492 - Setting a baseline: A 7-year review of referral rates and outcomes for serous ovarian cancer prior to implementation of oncologist mediated genetic testing.
Armel Susan Randall et al. Gynecologic oncology 2020 Jun - Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.
Bademci Refik et al. Cirugia espanola 2020 Jun - Cost-Effectiveness of the Manchester Approach to Identifying Lynch Syndrome in Women with Endometrial Cancer.
Snowsill Tristan M et al. Journal of clinical medicine 2020 Jun 9(6) - Evaluating the Impact of Oncology Care Model Reporting Requirements on Biomarker Testing and Treatment.
Castellanos Emily H et al. JCO oncology practice 2020 Jun JOP1900747 - Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD).
Seppälä Toni T et al. Familial cancer 2020 Jun - Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
Vos Janet R et al. International journal of cancer 2020 Jun - Increased Risk of Colorectal Cancer Tied to Advanced Colorectal Polyps: An Untapped Opportunity to Screen First-Degree Relatives and Decrease Cancer Burden.
Kolb Jennifer M et al. The American journal of gastroenterology 2020 Jun - Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin Na et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jun JCO1902760 - Underutilization of Lynch Syndrome Screening at Two Large Veterans Affairs Medical Centers.
Mittal Chetan et al. Digestive diseases and sciences 2020 Jun - Clinical outcome and toxicity from taxanes in breast cancer patients with BRCA1 and BRCA2 pathogenic germline mutations.
Bayraktar Soley et al. The breast journal 2020 Jun
Chronic Disease
- High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.
So Joyce et al. Canadian journal of psychiatry. Revue canadienne de psychiatrie 2020 Jun 706743720931234
Ethical, Legal and Social Issues (ELSI)
- Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Popejoy Alice B et al. American journal of human genetics 2020 Jun - The Case for Remedial Germline Editing-The Long-term View.
Adashi Eli Y et al. JAMA 2020 May 323(18) 1762-1763 - Ethical considerations of gene editing and genetic selection.
Rothschild Jodie et al. Journal of general and family medicine 2020 May 21(3) 37-47 - Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.
Brown Emily E et al. Journal of clinical lipidology 2020 May - Accessing medical biobanks to solve crimes: ethical considerations.
de Groot Nina F et al. Journal of medical ethics 2020 Jun - Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.
Fernández-Rhodes Lindsay et al. Circulation research 2020 Jun 126(12) 1816-1840
General Practice
- Impact of direct-to-consumer genetic testing on Australian clinical genetics services.
Millward Michael et al. European journal of medical genetics 2020 Jun 103968 - Assessing the effectiveness of actionable nutrigenomics and lifestyle genomics interventions for weight management in clinical practice: A critical, scoping review with directions for future research.
Horne Justine et al. Nutrition and health 2020 Jun 260106020928667
Heart, Lung, Blood and Sleep Diseases
- Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease.
Aragam Krishna G et al. Journal of the American College of Cardiology 2020 Jun 75(22) 2769-2780 - Systematic review of the clinical outcomes of iron reduction in Hereditary Hemochromatosis.
Prabhu Anil et al. Hepatology (Baltimore, Md.) 2020 Jun - Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.
Laudus Nele et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun - Polygenic risk scores outperform machine learning methods in predicting coronary artery disease status.
Gola Damian et al. Genetic epidemiology 2020 44(2) 125-138
Newborn Screening
- Relation of public health staffing to follow-up after newborn hearing screening in three health districts in Georgia, 2009-2015.
Al-Mulki Kareem et al. International journal of pediatric otorhinolaryngology 2020 Feb 129109784 - Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
David Jan et al. Minerva pediatrica 2020 Jun
Pharmacogenomics
- Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder.
Shelton Richard C et al. Psychiatry research 2020 May 290113017 - Clinical utility of next generation sequencing based HLA typing for disease association and pharmacogenetic testing.
Profaizer Tracie et al. Human immunology 2020 Jun - CYP2C19 allele frequencies in over 2.2 million direct-to-consumer genetics research participants and the potential implication for prescriptions in a large health system.
Ionova Yelena et al. Clinical and translational science 2020 Jun - Pharmacogenomics: Current Actionable Variants.
González-Covarrubias Vanessa et al. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2020 May 73(3) - Using pharmacogenetics to predict methotrexate response in rheumatoid arthritis patients.
Szostak Bartosz et al. Expert opinion on drug metabolism & toxicology 2020 Jun - PHARMACOGENOMICS OF ANTI-CANCER DRUGS: personalizing the CHOICE AND dose TO managE drug response.
Carr Daniel F et al. British journal of clinical pharmacology 2020 Jun
Reproductive Health
- Access to reproductive options after prenatal diagnosis-patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 22(1) 3 - Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.
Nijmeijer Stephanie C M et al. European journal of human genetics : EJHG 2020 Jun - Outcomes of Preimplantation Genetic Testing for Single Gene Defects in a Privately Funded Period and Publicly Funded Period: A North-American Single Center Experience.
Shaulov Talya et al. Journal of reproduction & infertility 21(2) 107-115 - Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements.
Viotti Manuel et al. Genes 2020 May 11(6) - Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies.
Chen Min et al. European journal of obstetrics, gynecology, and reproductive biology 2020 May 251119-124
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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