Calibrating variant curation by clinical context based on factors that influence patients' tolerance of uncertainty
Shared decision making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered management plan. Laboratories seek genomic report consistency, agnostic to clinical context. Molecular reports often mask laboratory-managed uncertain...
Saved in:
| Published in: | Genetics in medicine Vol. 25; no. 12; p. 100982 |
|---|---|
| Main Authors: | , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
01.12.2023
|
| Subjects: | |
| ISSN: | 1530-0366, 1530-0366 |
| Online Access: | Get more information |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Abstract | Shared decision making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered management plan. Laboratories seek genomic report consistency, agnostic to clinical context. Molecular reports often mask laboratory-managed uncertainties from clinical decision making. Better integration of these uncertainty management strategies requires a nuanced understanding of patients' perceptions and reactions to test uncertainties. We explored patients' tolerance to variant uncertainty in 3 parameters: (1) relative causal significance, (2) risk accuracy, and (3) classification validity.
Deliberative forums were undertaken with 18 patients with predictive testing experience. Uncertainty deliberations were elicited for each parameter. A thematic framework was first developed, and then mapped to whether they justified tolerance to more or less parameter-specific uncertainty.
Six identified themes mapped to clinical and personal domains. These domains generated opposing forces when calibrating uncertainty. Personal themes justified tolerance of higher uncertainty and clinical themes lower uncertainty. Decision making in uncertainty focused on reducing management regret. Open communication increased tolerance of classification validity and risk accuracy uncertainty. Using these data, we have developed a nascent clinical algorithm integrating molecular uncertainty with clinical context through a targeted communication framework.
Maximizing test utility necessitates context-specific recalibration of uncertainty management and communication. |
|---|---|
| AbstractList | Shared decision making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered management plan. Laboratories seek genomic report consistency, agnostic to clinical context. Molecular reports often mask laboratory-managed uncertainties from clinical decision making. Better integration of these uncertainty management strategies requires a nuanced understanding of patients' perceptions and reactions to test uncertainties. We explored patients' tolerance to variant uncertainty in 3 parameters: (1) relative causal significance, (2) risk accuracy, and (3) classification validity.
Deliberative forums were undertaken with 18 patients with predictive testing experience. Uncertainty deliberations were elicited for each parameter. A thematic framework was first developed, and then mapped to whether they justified tolerance to more or less parameter-specific uncertainty.
Six identified themes mapped to clinical and personal domains. These domains generated opposing forces when calibrating uncertainty. Personal themes justified tolerance of higher uncertainty and clinical themes lower uncertainty. Decision making in uncertainty focused on reducing management regret. Open communication increased tolerance of classification validity and risk accuracy uncertainty. Using these data, we have developed a nascent clinical algorithm integrating molecular uncertainty with clinical context through a targeted communication framework.
Maximizing test utility necessitates context-specific recalibration of uncertainty management and communication. Shared decision making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered management plan. Laboratories seek genomic report consistency, agnostic to clinical context. Molecular reports often mask laboratory-managed uncertainties from clinical decision making. Better integration of these uncertainty management strategies requires a nuanced understanding of patients' perceptions and reactions to test uncertainties. We explored patients' tolerance to variant uncertainty in 3 parameters: (1) relative causal significance, (2) risk accuracy, and (3) classification validity.PURPOSEShared decision making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered management plan. Laboratories seek genomic report consistency, agnostic to clinical context. Molecular reports often mask laboratory-managed uncertainties from clinical decision making. Better integration of these uncertainty management strategies requires a nuanced understanding of patients' perceptions and reactions to test uncertainties. We explored patients' tolerance to variant uncertainty in 3 parameters: (1) relative causal significance, (2) risk accuracy, and (3) classification validity.Deliberative forums were undertaken with 18 patients with predictive testing experience. Uncertainty deliberations were elicited for each parameter. A thematic framework was first developed, and then mapped to whether they justified tolerance to more or less parameter-specific uncertainty.METHODDeliberative forums were undertaken with 18 patients with predictive testing experience. Uncertainty deliberations were elicited for each parameter. A thematic framework was first developed, and then mapped to whether they justified tolerance to more or less parameter-specific uncertainty.Six identified themes mapped to clinical and personal domains. These domains generated opposing forces when calibrating uncertainty. Personal themes justified tolerance of higher uncertainty and clinical themes lower uncertainty. Decision making in uncertainty focused on reducing management regret. Open communication increased tolerance of classification validity and risk accuracy uncertainty. Using these data, we have developed a nascent clinical algorithm integrating molecular uncertainty with clinical context through a targeted communication framework.RESULTSSix identified themes mapped to clinical and personal domains. These domains generated opposing forces when calibrating uncertainty. Personal themes justified tolerance of higher uncertainty and clinical themes lower uncertainty. Decision making in uncertainty focused on reducing management regret. Open communication increased tolerance of classification validity and risk accuracy uncertainty. Using these data, we have developed a nascent clinical algorithm integrating molecular uncertainty with clinical context through a targeted communication framework.Maximizing test utility necessitates context-specific recalibration of uncertainty management and communication.CONCLUSIONMaximizing test utility necessitates context-specific recalibration of uncertainty management and communication. |
| Author | Best, Stephanie Trainer, Alison H Wheeler, Jack C W Goode, Erin Hoskins, Cass N |
| Author_xml | – sequence: 1 givenname: Alison H surname: Trainer fullname: Trainer, Alison H email: alison.trainer@petermac.org organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Department of Medicine, University of Melbourne, Melbourne, VIC, Australia; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, VIC, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia. Electronic address: alison.trainer@petermac.org – sequence: 2 givenname: Erin surname: Goode fullname: Goode, Erin organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, VIC, Australia – sequence: 3 givenname: Cass N surname: Hoskins fullname: Hoskins, Cass N organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, VIC, Australia – sequence: 4 givenname: Jack C W surname: Wheeler fullname: Wheeler, Jack C W organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, VIC, Australia – sequence: 5 givenname: Stephanie surname: Best fullname: Best, Stephanie organization: Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia; Victorian Comprehensive Cancer Centre Alliance, Melbourne, VIC, Australia; Australian Genomics, Murdoch Childrens Research Institute, Melbourne, VIC, Australia |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37724515$$D View this record in MEDLINE/PubMed |
| BookMark | eNpNkM1OwzAQhC1UREvhAbgg3-CS4tixkxxRxZ9UiQuco7WzLq5Su8QOom9PKorE6dudmd3DnJOJDx4JucrZIme5utss1m674IyLcWd1xU_ILJeCZUwoNfk3T8l5jBvG8lJwdkamoix5IXM5I3EJndM9JOfX9At6Bz5RMxyE4KneU9M57wx01ASf8DtRDRFbOpoWTAp9pOkDEnXedgN6g3Q3nqJP8Yam0GEPBy1YOozsEzif9hfk1EIX8fLIOXl_fHhbPmer16eX5f0qM4LJlNlCKymRFRqErAowUIGpjFVQ65JZW-VWcatb23Is6wINQGFqUZsaUULd8jm5_f2768PngDE1WxcNdh14DENseKVUKcuqZGP0-hgd9BbbZte7LfT75q8o_gMPB3DM |
| ContentType | Journal Article |
| Copyright | Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved. |
| Copyright_xml | – notice: Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved. |
| DBID | CGR CUY CVF ECM EIF NPM 7X8 |
| DOI | 10.1016/j.gim.2023.100982 |
| DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed MEDLINE - Academic |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic |
| DatabaseTitleList | MEDLINE MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: 7X8 name: MEDLINE - Academic url: https://search.proquest.com/medline sourceTypes: Aggregation Database |
| DeliveryMethod | no_fulltext_linktorsrc |
| Discipline | Medicine Biology |
| EISSN | 1530-0366 |
| ExternalDocumentID | 37724515 |
| Genre | Journal Article |
| GroupedDBID | --- .-D ..I .GJ 08G 39C 3V. 4Q1 4Q2 4Q3 53G 5GY 5RE 5VS 70F 7X7 88E 8FI 8FJ AAKAS AALRI AAXUO AAYEP AAZLF ABAWZ ABJNI ABLJU ABUWG ACGFO ACGFS ACKTT ACRQY ACZOJ ADBBV ADBIZ ADHDB ADVLN ADZCM AE3 AEJRE AENEX AEXYK AFETI AFJKZ AFKRA AFSHS AFTRI AGAYW AHMBA AHSBF AHVBC AILAN AITUG AIZYK AJRNO AKRWK ALFFA ALIPV ALMA_UNASSIGNED_HOLDINGS AMRAJ AWKKM AXYYD BENPR BKKNO BPHCQ BS7 BVXVI CCPQU CGR CS3 CUY CVF DNIVK DU5 EBS ECM EE. EIF EIOEI EJD EX3 F5P FDB FDQFY FERAY FIZPM FSGXE FYUFA H0~ HMCUK JF9 JG8 JK3 JSO K-O KD2 M1P M41 N9A NAO NPM NQJWS N~M OAG OAH ODA OK1 OLG OVD OWU OWV OWW OWX OWY OWZ P-K P2P PQQKQ PROAC PSQYO R58 RNT RNTTT ROL S4R SNX SNYQT SOHCF SOJ SRMVM SWTZT T8P TAOOD TBHMF TDRGL TEORI TSG UKHRP VVN W3M WOQ WOW XXN XYM YFH ZFV 7X8 AAFWJ AAYWO ACVFH ADCNI AEUPX AFPUW AIGII AKBMS AKYEP APXCP EBLON EFKBS |
| ID | FETCH-LOGICAL-c305t-f4b655e04ba3584aca8ac8cf6a9b70ff81f62fbdfd2e794ecaa4c939c9ee5a9d2 |
| IEDL.DBID | 7X8 |
| ISICitedReferencesCount | 1 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=001101486500001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1530-0366 |
| IngestDate | Thu Oct 02 10:23:05 EDT 2025 Wed Feb 19 02:05:17 EST 2025 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 12 |
| Keywords | Precision public health Variant curation Genomic uncertainty Patient preference implementation Person-centred care |
| Language | English |
| License | Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c305t-f4b655e04ba3584aca8ac8cf6a9b70ff81f62fbdfd2e794ecaa4c939c9ee5a9d2 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
| PMID | 37724515 |
| PQID | 2866757870 |
| PQPubID | 23479 |
| ParticipantIDs | proquest_miscellaneous_2866757870 pubmed_primary_37724515 |
| PublicationCentury | 2000 |
| PublicationDate | 2023-12-00 20231201 |
| PublicationDateYYYYMMDD | 2023-12-01 |
| PublicationDate_xml | – month: 12 year: 2023 text: 2023-12-00 |
| PublicationDecade | 2020 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States |
| PublicationTitle | Genetics in medicine |
| PublicationTitleAlternate | Genet Med |
| PublicationYear | 2023 |
| SSID | ssj0017320 |
| Score | 2.4051008 |
| Snippet | Shared decision making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered... |
| SourceID | proquest pubmed |
| SourceType | Aggregation Database Index Database |
| StartPage | 100982 |
| SubjectTerms | Clinical Decision-Making Communication Decision Making Emotions Humans Uncertainty |
| Title | Calibrating variant curation by clinical context based on factors that influence patients' tolerance of uncertainty |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/37724515 https://www.proquest.com/docview/2866757870 |
| Volume | 25 |
| WOSCitedRecordID | wos001101486500001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV3LSgMxFA1qVdz4qK_6IoLgKjjNZB5ZiYjFhS1dqHRX8qwFmanOtNC_92YmQ1eC4GY2w8CQnNx7kntyD0I3gU60hdRMDGWCsESHBJKwJjxSikputay6fb6_JINBOhrxoT9wK7yssomJVaDWuXJn5Hc0jeOkgtf97Is41yhXXfUWGuuoFQKVcZKuZLSqIiRh1ZYRFnVAIFLHTVWz0ndNpu4iOg2dToC7Pny_Mcwq0_T2_vuP-2jXc0z8UIPiAK2ZrI22atfJZRtt9309_RAV7mqWdCDIJngB22YYZ6zmNSqwXOLm4iR2knaI49hlPY3hpTfqweWHKPG0sTrBvk9rcYvL_NM41w6Dc4she9bag3J5hN56T6-Pz8TbMBAFwaAklsk4ikzApAiBrgglUqFSZWPBZRJYm3ZtTK3UVlMDq9soIZjiIVfcmEhwTY_RRpZn5hThlHWpSZmJYg28x3WfA3oAqBDa8K7mpoOum4EdA8xd7UJkJp8X49XQdtBJPTvjWd2PYxzCDoEBLzv7w9fnaMdNei1IuUAtC4vcXKJNtSinxfdVhR94Dob9H6EV0ug |
| linkProvider | ProQuest |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Calibrating+variant+curation+by+clinical+context+based+on+factors+that+influence+patients%27+tolerance+of+uncertainty&rft.jtitle=Genetics+in+medicine&rft.au=Trainer%2C+Alison+H&rft.au=Goode%2C+Erin&rft.au=Hoskins%2C+Cass+N&rft.au=Wheeler%2C+Jack+C+W&rft.date=2023-12-01&rft.eissn=1530-0366&rft.volume=25&rft.issue=12&rft.spage=100982&rft_id=info:doi/10.1016%2Fj.gim.2023.100982&rft_id=info%3Apmid%2F37724515&rft_id=info%3Apmid%2F37724515&rft.externalDocID=37724515 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1530-0366&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1530-0366&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1530-0366&client=summon |