Publication Date: Jan 3, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal C Anwar A et al. Journal of the American Heart Association 2020 Jan 9(1) e012264 - Recent advances in the genetics of preterm birth.
Wadon Megan et al. Annals of human genetics 2019 Dec - Biomarkers in autism spectrum disorders: Current progress.
Shen Liming et al. Clinica chimica acta; international journal of clinical chemistry 2019 Dec 50241-54 - Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese Andrea et al. Neurology 2020 Jan 94(1) e51-e61 - Methodological quality of clinical practice guidelines for genetic testing in children: A systematic assessment using the appraisal of guidelines for research and evaluation II instrument.
Jiao Xue-Feng et al. Medicine 2019 Dec 98(52) e18521 - Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
Signorelli Mirko et al. Journal of cachexia, sarcopenia and muscle 2019 Dec - The genetics of isolated congenital heart disease.
Nees Shannon N et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Dec - A call for global action for rare diseases in Africa.
Baynam Gareth S et al. Nature genetics 2019 Dec - A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke Peter et al. EBioMedicine 2019 Dec
Cancer
- Mental Illness and BRCA1/2 Genetic Testing Intention Among Multiethnic Women Undergoing Screening Mammography.
Jones Tarsha et al. Oncology nursing forum 2020 Jan 47(1) E13-E24 - Short-term and long-term outcomes after preventive surgery in adolescent patients with familial adenomatous polyposis.
Vitellaro Marco et al. Pediatric blood & cancer 2019 Dec e28110 - Benefit from extended surveillance interval on colorectal cancer risk in Lynch syndrome.
Lindberg Lars Joachim et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2019 Dec - Influence of family history on risk of second primary cancers and survival in squamous cell skin cancer patients.
Chattopadhyay S et al. The British journal of dermatology 2019 Dec - Prediction and clinical utility of a contralateral breast cancer risk model.
Giardiello Daniele et al. Breast cancer research : BCR 2019 Dec 21(1) 144 - Increased Overall Mortality Even after Risk Reducing Surgery for BRCA -Positive Women in Western Sweden.
Öfverholm Anna et al. Genes 2019 Dec 10(12) - Long-term overall survival and prognostic score predicting survival: the IMPACT study in precision medicine.
Tsimberidou Apostolia-Maria et al. Journal of hematology & oncology 2019 Dec 12(1) 145 - Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
Jorge Soledad et al. Gynecologic oncology 2019 Dec - Latinas' knowledge of and experiences with genetic cancer risk assessment: Barriers and facilitators.
Gómez-Trillos Sara et al. Journal of genetic counseling 2019 Dec - Clinical feasibility of NGS liquid biopsy analysis in NSCLC patients.
Papadopoulou Eirini et al. PloS one 2019 14(12) e0226853 - Use of detailed family history data to improve risk prediction,with application to breast cancer screening.
Jiang Yue et al. PloS one 2019 14(12) e0226407
Chronic Disease
- Ten Years of the International Parkinson Disease Genomics Consortium: Progress and Next Steps.
et al. Journal of Parkinson's disease 2019 Dec - Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention.
Gorin Michael B et al. Experimental eye research 2019 Dec 107894 - Detection of Alzheimer Disease Pathology in Patients Using Biochemical Biomarkers: Prospects and Challenges for Use in Clinical Practice.
Shaw Leslie M et al. The journal of applied laboratory medicine 2019 Dec
Ethical, Legal and Social Issues (ELSI)
- From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing.
Savard Jacqueline et al. AJOB empirical bioethics 2019 Dec 1-14 - A survey of U. S. state insurance commissioners concerning genetic testing and life insurance: Redux at 27.
Golinghorst Dexter R et al. Journal of genetic counseling 2019 Dec - Black Women's Confidence in the Genetic Information Nondiscrimination Act.
Sutton Arnethea L et al. International journal of environmental research and public health 2019 Dec 16(24) - How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?
Wolf Susan M et al. Ethnicity & disease 2019 29(Suppl 3) 623-628 - Ethical and Legal Considerations for the Inclusion of Underserved and Underrepresented Immigrant Populations in Precision Health and Genomic Research in the United States.
Wagner Jennifer K et al. Ethnicity & disease 2019 29(Suppl 3) 641-650 - The Use of Racial Categories in Precision Medicine Research.
Callier Shawneequa L et al. Ethnicity & disease 2019 29(Suppl 3) 651-658
General Practice
- Genetic counselors with advanced skills: I. Refining a model of advanced training.
Baty Bonnie J et al. Journal of genetic counseling 2019 Dec - How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.
Marleen van den Heuvel Lieke et al. Journal of genetic counseling 2019 Dec - Assessing relatives' readiness for hereditary cancer cascade genetic testing.
Bednar Erica M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec - Importance of family history and indications for genetic testing.
Wood Marie E et al. The breast journal 2019 Dec - 30-year journey from the start of the Human Genome Project to clinical application of genomics in psychiatry: are we there yet?
Mota Nina Roth et al. The lancet. Psychiatry 2020 Jan 7(1) 7-9 - Genetic counselors with advanced skills: II. A new career trajectory framework.
Davis Claire et al. Journal of genetic counseling 2019 Dec - When moments matter: Finding answers with rapid exome sequencing.
Powis Zöe et al. Molecular genetics & genomic medicine 2019 Dec e1027
Heart, Lung, Blood and Sleep Diseases
- Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?
Page Michael M et al. Clinical genetics 2019 Dec - Familial hypercholesterolemia and elevated lipoprotein(a): double heritable risk and new therapeutic opportunities.
Vuorio A et al. Journal of internal medicine 2020 Jan 287(1) 2-18 - The Characteristics of Patients with Possible Familial Hypercholesterolemia- Screening a Large Payer/ProviderHealthcare Delivery System.
Elis A et al. QJM : monthly journal of the Association of Physicians 2019 Dec - Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions.
Miller Aaron C et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Dec - Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies.
Lee Han-Chih Hencher et al. The Clinical biochemist. Reviews 2019 Nov 40(4) 187-200 - Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
Di Taranto Maria Donata et al. European journal of medical genetics 2019 Dec 103831
Newborn Screening
- Values clarification and parental decision making about newborn genomic sequencing.
Peinado Susana et al. Health psychology : official journal of the Division of Health Psychology, American Psychological Association 2019 Dec - Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee Stacey et al. The Journal of molecular diagnostics : JMD 2019 Dec - High throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Brennenstuhl Heiko et al. Journal of inherited metabolic disease 2019 Dec - Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Yiming et al. Journal of inherited metabolic disease 2019 Dec - Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.
van Campen Julia C et al. International journal of neonatal screening 2019 Dec 5(4) 40 - 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.
Dangouloff Tamara et al. Neuromuscular disorders : NMD 2019 Nov
Pharmacogenomics
- Coverage of pharmacogenetic tests by private health insurance companies.
Park Sharon K et al. Journal of the American Pharmacists Association : JAPhA 2019 Dec - Canadian Medication Cost Savings Associated with Combinatorial Pharmacogenomic Guidance for Psychiatric Medications.
Tanner Julie-Anne et al. ClinicoEconomics and outcomes research : CEOR 2019 11779-787 - Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis.
Asiimwe Innocent G et al. Clinical pharmacology and therapeutics 2019 Dec - Pharmacogenetics of methotrexate response in rheumatoid arthritis: an update.
Ling Stephanie F et al. Pharmacogenomics 2020 Jan 21(1) 3-6 - Genetic risk assessment towards warfarin application: Saudi Arabia study with a potential to predict and prevent side effects.
Al-Saikhan Fahad I et al. Saudi journal of biological sciences 2020 Jan 27(1) 456-459 - Does Pharmacogenomic Testing Meaningfully Improve Antidepressant Treatment Outcomes When Looking Only at Patients Taking Phase I Hepatically Metabolized Drugs? A Little.
Goldberg Joseph F et al. The Journal of clinical psychiatry 2019 Dec 80(6) - Impact of CYP2D6 polymorphisms on tamoxifen treatment in patients with retroperitoneal fibrosis: A first step towards tailored therapy?
Dreger Nici Markus et al. Urology 2019 Dec
Reproductive Health
- Universal strategy for preimplantation genetic testing for cystic fibrosis based on next-generation sequencing.
Chamayou Sandrine et al. Journal of assisted reproduction and genetics 2019 Dec - Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.
Scotchman Elizabeth et al. Clinical chemistry 2019 Dec - Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler Gidon et al. Molecular genetics & genomic medicine 2019 Dec e1053 - Combining the use of a fetal fraction-based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy.
Benn Peter et al. Journal of genetic counseling 2019 Dec
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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