Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical epidemiology"
DOI: 10.1016/j.jclinepi.2017.08.020
Abstract: Genome-wide (exome or whole genome) sequencing with appropriate genetic counseling should be considered for any patient with a suspected Mendelian disease that has not been identified by conventional testing. Clinical genome-wide sequencing provides a powerful… read more here.
Keywords: genome wide; debate clinical; clinical genome; wide sequencing ... See more keywords
Putting genome-wide sequencing in neonates into perspective
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0293-0
Abstract: PurposeSeveral studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with… read more here.
Keywords: wide sequencing; genome wide; neonates perspective; yield ... See more keywords
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-107897
Abstract: Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic testing of the fetus during pregnancy.… read more here.
Keywords: genome wide; position statement; pregnancy; gws ... See more keywords
Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of telemedicine and telecare"
DOI: 10.1177/1357633x20982737
Abstract: INTRODUCTION Genome-wide sequencing (exome or whole genome) is transforming the care and management of paediatric patients with a rare disease because of its diagnostic capabilities. Genome-wide sequencing is most effective when both parents and the… read more here.
Keywords: health services; telehealth; time; genome wide ... See more keywords