FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4290998832> ?p ?o ?g. }

• W4290998832 endingPage "145" @default.
• W4290998832 startingPage "140" @default.
• W4290998832 abstract "Pharmacogenomics (PGx) characterizes genetic variation in medication response. 85–95% of the population carries actionable PGx variants. No prior studies have demonstrated the application and feasibility of PGx in prenatal testing. We assessed parental desire for PGx findings from fetal exome sequencing (ES), evaluated PGx variants, and reviewed implications for medically complex neonates. A prospective cohort undergoing ES for nonimmune hydrops fetalis were offered PGx results as a secondary finding. Seven pharmacogenes with Level A evidence, defined by Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines, were tested and reported to patients and referring providers. Medication administration records were reviewed. Most participants (36/40, 90%) desired PGx testing. 32/36 (89%) had potentially actionable PGx diplotypes in six genes: CYP2C19 (20/36, 56%), CYP2C9 (16/36, 44%), CYP2D6 (10/36, 28%), SLCO1B1 (13/36, 36%), TPMT (6/36, 17%), UGT1A1 (4/36, 11%). 12/13 (92%) live births had PGx variants. Neonatal chart review indicated that three medications with CPIC Level A evidence were administered to four neonates. None of the patients received a medication that aligned with an actionable pharmacogenetic variant as defined by Level A CPIC guidance. Most participants opted to receive PGx results. 89% had actionable variants, consistent with population estimates. Obtaining fetal PGx data is feasible for medically complex neonates. Further studies are needed for broad clinical application of PGx in fetuses with major congenital abnormalities. Our study demonstrates the potential of PGx as useful preemptive clinical information that could be obtained at the time of fetal exome sequencing for other indications. ClinicalTrials.gov Registration: NCT03911531" @default.
• W4290998832 created "2022-08-13" @default.
• W4290998832 creator A5026591251 @default.
• W4290998832 creator A5041071963 @default.
• W4290998832 creator A5042953714 @default.
• W4290998832 creator A5048364979 @default.
• W4290998832 creator A5050654890 @default.
• W4290998832 creator A5067712538 @default.
• W4290998832 creator A5069577564 @default.
• W4290998832 creator A5082197380 @default.
• W4290998832 date "2022-09-01" @default.
• W4290998832 modified "2023-10-03" @default.
• W4290998832 title "Fetal pharmacogenomics: A promising addition to complex neonatal care" @default.
• W4290998832 cites W1967834922 @default.
• W4290998832 cites W2047094448 @default.
• W4290998832 cites W2060705686 @default.
• W4290998832 cites W2159106071 @default.
• W4290998832 cites W2163438347 @default.
• W4290998832 cites W2262742005 @default.
• W4290998832 cites W2408691843 @default.
• W4290998832 cites W2523705599 @default.
• W4290998832 cites W3000483992 @default.
• W4290998832 cites W3002007531 @default.
• W4290998832 cites W3014027704 @default.
• W4290998832 cites W3135824095 @default.
• W4290998832 cites W3137216793 @default.
• W4290998832 cites W3164692585 @default.
• W4290998832 cites W3173872554 @default.
• W4290998832 cites W3176774346 @default.
• W4290998832 cites W3184990406 @default.
• W4290998832 doi "https://doi.org/10.1016/j.ymgme.2022.08.002" @default.
• W4290998832 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36029725" @default.
• W4290998832 hasPublicationYear "2022" @default.
• W4290998832 type Work @default.
• W4290998832 citedByCount "2" @default.
• W4290998832 countsByYear W42909988322022 @default.
• W4290998832 countsByYear W42909988322023 @default.
• W4290998832 crossrefType "journal-article" @default.
• W4290998832 hasAuthorship W4290998832A5026591251 @default.
• W4290998832 hasAuthorship W4290998832A5041071963 @default.
• W4290998832 hasAuthorship W4290998832A5042953714 @default.
• W4290998832 hasAuthorship W4290998832A5048364979 @default.
• W4290998832 hasAuthorship W4290998832A5050654890 @default.
• W4290998832 hasAuthorship W4290998832A5067712538 @default.
• W4290998832 hasAuthorship W4290998832A5069577564 @default.
• W4290998832 hasAuthorship W4290998832A5082197380 @default.
• W4290998832 hasConcept C104317684 @default.
• W4290998832 hasConcept C126322002 @default.
• W4290998832 hasConcept C135763542 @default.
• W4290998832 hasConcept C140840227 @default.
• W4290998832 hasConcept C142724271 @default.
• W4290998832 hasConcept C163763905 @default.
• W4290998832 hasConcept C16671776 @default.
• W4290998832 hasConcept C170734499 @default.
• W4290998832 hasConcept C2776598434 @default.
• W4290998832 hasConcept C2908647359 @default.
• W4290998832 hasConcept C32220436 @default.
• W4290998832 hasConcept C501734568 @default.
• W4290998832 hasConcept C526171541 @default.
• W4290998832 hasConcept C54355233 @default.
• W4290998832 hasConcept C55775858 @default.
• W4290998832 hasConcept C60644358 @default.
• W4290998832 hasConcept C62231903 @default.
• W4290998832 hasConcept C71924100 @default.
• W4290998832 hasConcept C86803240 @default.
• W4290998832 hasConcept C98274493 @default.
• W4290998832 hasConcept C99454951 @default.
• W4290998832 hasConceptScore W4290998832C104317684 @default.
• W4290998832 hasConceptScore W4290998832C126322002 @default.
• W4290998832 hasConceptScore W4290998832C135763542 @default.
• W4290998832 hasConceptScore W4290998832C140840227 @default.
• W4290998832 hasConceptScore W4290998832C142724271 @default.
• W4290998832 hasConceptScore W4290998832C163763905 @default.
• W4290998832 hasConceptScore W4290998832C16671776 @default.
• W4290998832 hasConceptScore W4290998832C170734499 @default.
• W4290998832 hasConceptScore W4290998832C2776598434 @default.
• W4290998832 hasConceptScore W4290998832C2908647359 @default.
• W4290998832 hasConceptScore W4290998832C32220436 @default.
• W4290998832 hasConceptScore W4290998832C501734568 @default.
• W4290998832 hasConceptScore W4290998832C526171541 @default.
• W4290998832 hasConceptScore W4290998832C54355233 @default.
• W4290998832 hasConceptScore W4290998832C55775858 @default.
• W4290998832 hasConceptScore W4290998832C60644358 @default.
• W4290998832 hasConceptScore W4290998832C62231903 @default.
• W4290998832 hasConceptScore W4290998832C71924100 @default.
• W4290998832 hasConceptScore W4290998832C86803240 @default.
• W4290998832 hasConceptScore W4290998832C98274493 @default.
• W4290998832 hasConceptScore W4290998832C99454951 @default.
• W4290998832 hasFunder F4320308350 @default.
• W4290998832 hasIssue "1-2" @default.
• W4290998832 hasLocation W42909988321 @default.
• W4290998832 hasLocation W42909988322 @default.
• W4290998832 hasOpenAccess W4290998832 @default.
• W4290998832 hasPrimaryLocation W42909988321 @default.
• W4290998832 hasRelatedWork W124295756 @default.
• W4290998832 hasRelatedWork W2025838170 @default.
• W4290998832 hasRelatedWork W2165565968 @default.
• W4290998832 hasRelatedWork W2520298033 @default.

• next