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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Mar 28, 2024
. (Total: 63390 Documents since 2012)
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Informed consent[original query]>>Original Studies[Product Type]
Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
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Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.
Alexandra Capasso et al. J Genet Couns 2024
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Direct-to-Consumer Genetic Tests and Canadian Genetic Counselors: A Pilot Exploration of Professional Roles in Response to Novel Biotechnologies.
Cassandra E Haley et al. Genes (Basel) 2024 15(2)
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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study.
Alissa M D'Gama et al. BMJ Open 2024 14(2) e080529
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Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.
Changhong Wang et al. Mol Genet Genomic Med 2024 12(1) e2352
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Patient survey on cancer genomic medicine in Japan under the national health insurance system.
Hidenori Kage et al. Cancer Sci 2024
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Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
Carly Eichten et al. J Genet Couns 2024
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Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population.
Lauren Isley et al. F S Rep 2024 4(4) 384-389
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Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua.
Iris S Delgado et al. Eur J Hum Genet 2023
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Danish Prostate Cancer Consortium Study 1 (DPCC-1) protocol: Multicentre prospective validation of the urine-based three-microRNA biomarker model uCaP.
Jacob Fredsøe et al. BMJ Open 2023 13(11) e077020
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Screening uptake of colonoscopy versus fecal immunochemical testing in first-degree relatives of patients with non-syndromic colorectal cancer: A multicenter, open-label, parallel-group, randomized trial (ParCoFit study).
Natalia González-López et al. PLoS Med 2023 20(10) e1004298
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"There should be one spot that you can go:" BRCA mutation carriers' perspectives on cancer risk management and a hereditary cancer registry.
J Hynes et al. J Community Genet 2023
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Women's experiences with non-invasive prenatal testing in Switzerland: a qualitative analysis.
Mirriam Tyebally Fang et al. BMC Med Ethics 2023 24(1) 85
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Public attitudes towards genomic data sharing: results from a provincial online survey in Canada.
Holly Etchegary et al. BMC Med Ethics 2023 24(1) 81
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Using a chat-based informed consent tool in large-scale genomic research.
Sarah K Savage et al. J Am Med Inform Assoc 2023
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Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting.
Leila Jamal et al. J Genet Couns 2023
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[The role of physicians in patient and family adherence to genetic testing].
Edith Chipoulet et al. Bull Cancer 2023
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Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Miranda L G Hallquist et al. Eur J Hum Genet 2023
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Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.
Erica Soster et al. Mol Cytogenet 2023 16(1) 10
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Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
MLG Hallquist et al, EJHG, June 12, 2023
Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool.
Ho Yin Diana Lee et al. J Obstet Gynaecol 2023 43(1) 2204959
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Assessment of a Genomic Assay in Patients With ERBB2-Positive Breast Cancer Following Neoadjuvant Trastuzumab-Based Chemotherapy With or Without Pertuzumab.
Coralia Bueno-Muiño et al. JAMA Oncol 2023
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Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Tomokazu Kimizu et al. Brain & development 2023
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Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners.
Alison C Kay et al. Journal of medical genetics 2023
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Implementation of Precision Oncology in Clinical Practice: Results of a National Survey for Health Care Professionals.
Gianpiero Fasola et al. The oncologist 2023
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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.
Rayabarapu Pranav Chand et al. European journal of medical genetics 2023 66(5) 104730
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Clinical Utility of Exome Sequencing in a Pediatric Epilepsy Cohort.
Jordana L Graifman et al. Epilepsia 2023
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"Development and Implementation of Novel Chatbot-based Genomic Research Consent".
Erica D Smith et al. bioRxiv : the preprint server for biology 2023
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Safety and efficacy of an artificial intelligence-enabled decision tool for treatment decisions in neovascular age-related macular degeneration and an exploration of clinical pathway integration and implementation: protocol for a multi-methods validation study.
Henry David Jeffry Hogg et al. BMJ open 2023 13(2) e069443
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A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.
Jesse J Swen et al. Lancet (London, England) 2023 401(10374) 347-356
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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