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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.…
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Keywords:
reported outcome;
genetics;
study;
clinical genetics ... See more keywords
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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…
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Keywords:
medicine;
recontacting clinical;
genomic medicine;
genetics ... See more keywords
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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…
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Keywords:
interpretation;
analysis;
genetics;
non coding ... See more keywords
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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…
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Keywords:
clinical genetics;
pitfalls clinical;
genetics;