Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Genetic Counseling"
DOI: 10.1007/s10897-017-0079-6
Abstract: International advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective. Patient-reported outcome measures (PROMs) have significant potential to inform such attempts.… read more here.
Keywords: reported outcome; genetics; study; clinical genetics ... See more keywords
Recontacting in clinical genetics and genomic medicine? We need to talk about it
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.8
Abstract: THE PROBLEM An editorial in the AJMG,1 which accompanied the first systematic review conducted on the topic,2 suggested that advances in nextgeneration sequencing technologies and the volume of genomic information they deliver are leading clinicians… read more here.
Keywords: medicine; recontacting clinical; genomic medicine; genetics ... See more keywords
From tradition to transformation: evolving models of care in clinical genetics
Sign Up to like & getrecommendations! Published in 2025 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000001502
Abstract: Purpose of review The integration of genomics into mainstream healthcare is transforming clinical genetics into a foundational component of modern medicine. This review explores the evolution of clinical genetics service delivery, highlighting evolving models of… read more here.
Keywords: genetics; clinical genetics; medicine; evolving models ... See more keywords
Modern clinical genetics in cardiology
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DOI: 10.1136/heartjnl-2024-324171
Abstract: Advances in molecular genetics during the past decades led to seminal discoveries in the genetic basis of cardiovascular diseases, resulting in a new understanding of their pathogenesis, determinants of natural history and more recently paved… read more here.
Keywords: genetics; history; clinical genetics; genetics cardiology ... See more keywords
Genome analysis and knowledge-driven variant interpretation with TGex
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0647-8
Abstract: BackgroundThe clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant genetic variations underlying a patient’s phenotypes and… read more here.
Keywords: interpretation; analysis; genetics; non coding ... See more keywords
A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder—hypertriglyceridemia
Sign Up to like & getrecommendations! Published in 2024 at "Translational Pediatrics"
DOI: 10.21037/tp-24-131
Abstract: The completion of the Human Genome Project and tremendous advances in automated high-throughput genetic analysis technologies have enabled explosive progress in the field of genetics, which resulted in countless discoveries of novel genes and pathways.… read more here.
Keywords: genetics; disorder; brief clinical; clinical genetics ... See more keywords
Pitfalls in clinical genetics
Sign Up to like & getrecommendations! Published in 2023 at "Singapore Medical Journal"
DOI: 10.4103/singaporemedj.smj-2021-329
Abstract: With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL… read more here.
Keywords: clinical genetics; pitfalls clinical; genetics;