Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis
This study systematically reviewed and synthesized the literature on psychological and clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel testing or genomic sequencing. MEDLINE and EMBASE were searched. Two reviewers screened studies and extracted data. Dat...
Gespeichert in:
| Veröffentlicht in: | Genetics in medicine 2021-01, Vol.23 (1), p.22-33 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 33 |
|---|---|
| container_issue | 1 |
| container_start_page | 22 |
| container_title | Genetics in medicine |
| container_volume | 23 |
| creator | Mighton, Chloe Shickh, Salma Uleryk, Elizabeth Pechlivanoglou, Petros Bombard, Yvonne |
| description | This study systematically reviewed and synthesized the literature on psychological and clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel testing or genomic sequencing. MEDLINE and EMBASE were searched. Two reviewers screened studies and extracted data. Data were synthesized through meta-analysis and meta-aggregation. The search identified 4539 unique studies and 15 were included in the review. Patients with VUS reported higher genetic test–specific concerns on the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale than patients with negative results (mean difference 3.73 [95% CI 0.80 to 6.66] P = 0.0126), and lower than patients with positive results (mean difference −7.01 [95% CI −11.31 to −2.71], P = 0.0014). Patients with VUS and patients with negative results were similarly likely to have a change in their clinical management (OR 1.41 [95% CI 0.90 to 2.21], P = 0.182), and less likely to have a change in management than patients with positive results (OR 0.09 [95% CI 0.05 to 0.19], P |
| doi_str_mv | 10.1038/s41436-020-00957-2 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2442599650</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S1098360021025144</els_id><sourcerecordid>2442599650</sourcerecordid><originalsourceid>FETCH-LOGICAL-c538t-8eb61b228c6380833e868d53468f0b6fbb992caa7a958edaa25d45934ffac8363</originalsourceid><addsrcrecordid>eNp9UcuO1DAQjBCIXRZ-gAOyxIVLwLFjx0ZcViNe0kpc4Gw5Tid4ldiD7Qyan-Ib6ZksIHHYk-3qqup2V1U9b-jrhnL1JrdNy2VNGa0p1aKr2YPqshEcn1zKh3inWtVcUnpRPcn5ltKm44w-ri4406zpVHdZ_drNPnhnZ2LDQPb56L7HOU5nJK7FxQUyiSNJ4MAffJiIJQebvA3lBK_BQSrWB5L9FPyIOkTImOJClnUufoIAZG8DzKRALieDmAiicfGOZPixQnCIvkXffMwFFluwkODg4ed5pgWKrW2w8zH7_LR6NNo5w7O786r69uH9192n-ubLx8-765vaCa5KraCXTc-YcpIrqjgHJdUgeCvVSHs59r3WzFnbWS0UDNYyMbRC83YcrVNc8qvq1ea7TxFHzMUsPjuYZ_xJXLNhbcuE1lJQpL78j3ob14TznlidpK0WWiGLbSyXYs4JRrNPfrHpaBpqTmmaLU2DaZpzmoah6MWd9dovMPyV_IkPCXwjZCyFCdK_3vfavttUgBvEPSeTnccYYPAYczFD9PfJfwNv4MHV</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2476049598</pqid></control><display><type>article</type><title>Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>ProQuest Central UK/Ireland</source><source>Alma/SFX Local Collection</source><creator>Mighton, Chloe ; Shickh, Salma ; Uleryk, Elizabeth ; Pechlivanoglou, Petros ; Bombard, Yvonne</creator><creatorcontrib>Mighton, Chloe ; Shickh, Salma ; Uleryk, Elizabeth ; Pechlivanoglou, Petros ; Bombard, Yvonne</creatorcontrib><description>This study systematically reviewed and synthesized the literature on psychological and clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel testing or genomic sequencing. MEDLINE and EMBASE were searched. Two reviewers screened studies and extracted data. Data were synthesized through meta-analysis and meta-aggregation. The search identified 4539 unique studies and 15 were included in the review. Patients with VUS reported higher genetic test–specific concerns on the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale than patients with negative results (mean difference 3.73 [95% CI 0.80 to 6.66] P = 0.0126), and lower than patients with positive results (mean difference −7.01 [95% CI −11.31 to −2.71], P = 0.0014). Patients with VUS and patients with negative results were similarly likely to have a change in their clinical management (OR 1.41 [95% CI 0.90 to 2.21], P = 0.182), and less likely to have a change in management than patients with positive results (OR 0.09 [95% CI 0.05 to 0.19], P < 0.0001). Factors that contributed to how patients responded to their VUS included their interpretation of the result and their health-care provider’s counseling and recommendations. Review findings suggest there may be a need for practice guidelines or clinical decision support tools for VUS disclosure and management.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/s41436-020-00957-2</identifier><identifier>PMID: 32921787</identifier><language>eng</language><publisher>New York: Elsevier Inc</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; Chromosome Mapping ; Clinical outcomes ; Genetic Predisposition to Disease ; Genetic Testing ; Genetics ; Genomes ; Genomics ; Human Genetics ; Humans ; Laboratory Medicine ; Librarians ; Meta-analysis ; psychologicaloutcomes ; Surgery ; Systematic Review ; variant of uncertain significance</subject><ispartof>Genetics in medicine, 2021-01, Vol.23 (1), p.22-33</ispartof><rights>2021 The Author(s)</rights><rights>American College of Medical Genetics and Genomics 2020</rights><rights>American College of Medical Genetics and Genomics 2020.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c538t-8eb61b228c6380833e868d53468f0b6fbb992caa7a958edaa25d45934ffac8363</citedby><cites>FETCH-LOGICAL-c538t-8eb61b228c6380833e868d53468f0b6fbb992caa7a958edaa25d45934ffac8363</cites><orcidid>0000-0002-9516-4539</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2476049598?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,64362,64364,64366,72216</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32921787$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mighton, Chloe</creatorcontrib><creatorcontrib>Shickh, Salma</creatorcontrib><creatorcontrib>Uleryk, Elizabeth</creatorcontrib><creatorcontrib>Pechlivanoglou, Petros</creatorcontrib><creatorcontrib>Bombard, Yvonne</creatorcontrib><title>Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>This study systematically reviewed and synthesized the literature on psychological and clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel testing or genomic sequencing. MEDLINE and EMBASE were searched. Two reviewers screened studies and extracted data. Data were synthesized through meta-analysis and meta-aggregation. The search identified 4539 unique studies and 15 were included in the review. Patients with VUS reported higher genetic test–specific concerns on the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale than patients with negative results (mean difference 3.73 [95% CI 0.80 to 6.66] P = 0.0126), and lower than patients with positive results (mean difference −7.01 [95% CI −11.31 to −2.71], P = 0.0014). Patients with VUS and patients with negative results were similarly likely to have a change in their clinical management (OR 1.41 [95% CI 0.90 to 2.21], P = 0.182), and less likely to have a change in management than patients with positive results (OR 0.09 [95% CI 0.05 to 0.19], P < 0.0001). Factors that contributed to how patients responded to their VUS included their interpretation of the result and their health-care provider’s counseling and recommendations. Review findings suggest there may be a need for practice guidelines or clinical decision support tools for VUS disclosure and management.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Chromosome Mapping</subject><subject>Clinical outcomes</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Librarians</subject><subject>Meta-analysis</subject><subject>psychologicaloutcomes</subject><subject>Surgery</subject><subject>Systematic Review</subject><subject>variant of uncertain significance</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9UcuO1DAQjBCIXRZ-gAOyxIVLwLFjx0ZcViNe0kpc4Gw5Tid4ldiD7Qyan-Ib6ZksIHHYk-3qqup2V1U9b-jrhnL1JrdNy2VNGa0p1aKr2YPqshEcn1zKh3inWtVcUnpRPcn5ltKm44w-ri4406zpVHdZ_drNPnhnZ2LDQPb56L7HOU5nJK7FxQUyiSNJ4MAffJiIJQebvA3lBK_BQSrWB5L9FPyIOkTImOJClnUufoIAZG8DzKRALieDmAiicfGOZPixQnCIvkXffMwFFluwkODg4ed5pgWKrW2w8zH7_LR6NNo5w7O786r69uH9192n-ubLx8-765vaCa5KraCXTc-YcpIrqjgHJdUgeCvVSHs59r3WzFnbWS0UDNYyMbRC83YcrVNc8qvq1ea7TxFHzMUsPjuYZ_xJXLNhbcuE1lJQpL78j3ob14TznlidpK0WWiGLbSyXYs4JRrNPfrHpaBpqTmmaLU2DaZpzmoah6MWd9dovMPyV_IkPCXwjZCyFCdK_3vfavttUgBvEPSeTnccYYPAYczFD9PfJfwNv4MHV</recordid><startdate>202101</startdate><enddate>202101</enddate><creator>Mighton, Chloe</creator><creator>Shickh, Salma</creator><creator>Uleryk, Elizabeth</creator><creator>Pechlivanoglou, Petros</creator><creator>Bombard, Yvonne</creator><general>Elsevier Inc</general><general>Nature Publishing Group US</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9516-4539</orcidid></search><sort><creationdate>202101</creationdate><title>Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis</title><author>Mighton, Chloe ; Shickh, Salma ; Uleryk, Elizabeth ; Pechlivanoglou, Petros ; Bombard, Yvonne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c538t-8eb61b228c6380833e868d53468f0b6fbb992caa7a958edaa25d45934ffac8363</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Chromosome Mapping</topic><topic>Clinical outcomes</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Genetics</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Librarians</topic><topic>Meta-analysis</topic><topic>psychologicaloutcomes</topic><topic>Surgery</topic><topic>Systematic Review</topic><topic>variant of uncertain significance</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mighton, Chloe</creatorcontrib><creatorcontrib>Shickh, Salma</creatorcontrib><creatorcontrib>Uleryk, Elizabeth</creatorcontrib><creatorcontrib>Pechlivanoglou, Petros</creatorcontrib><creatorcontrib>Bombard, Yvonne</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mighton, Chloe</au><au>Shickh, Salma</au><au>Uleryk, Elizabeth</au><au>Pechlivanoglou, Petros</au><au>Bombard, Yvonne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2021-01</date><risdate>2021</risdate><volume>23</volume><issue>1</issue><spage>22</spage><epage>33</epage><pages>22-33</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>This study systematically reviewed and synthesized the literature on psychological and clinical outcomes of receiving a variant of uncertain significance (VUS) from multigene panel testing or genomic sequencing. MEDLINE and EMBASE were searched. Two reviewers screened studies and extracted data. Data were synthesized through meta-analysis and meta-aggregation. The search identified 4539 unique studies and 15 were included in the review. Patients with VUS reported higher genetic test–specific concerns on the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale than patients with negative results (mean difference 3.73 [95% CI 0.80 to 6.66] P = 0.0126), and lower than patients with positive results (mean difference −7.01 [95% CI −11.31 to −2.71], P = 0.0014). Patients with VUS and patients with negative results were similarly likely to have a change in their clinical management (OR 1.41 [95% CI 0.90 to 2.21], P = 0.182), and less likely to have a change in management than patients with positive results (OR 0.09 [95% CI 0.05 to 0.19], P < 0.0001). Factors that contributed to how patients responded to their VUS included their interpretation of the result and their health-care provider’s counseling and recommendations. Review findings suggest there may be a need for practice guidelines or clinical decision support tools for VUS disclosure and management.</abstract><cop>New York</cop><pub>Elsevier Inc</pub><pmid>32921787</pmid><doi>10.1038/s41436-020-00957-2</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0002-9516-4539</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1098-3600 |
| ispartof | Genetics in medicine, 2021-01, Vol.23 (1), p.22-33 |
| issn | 1098-3600 1530-0366 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2442599650 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | Biomedical and Life Sciences Biomedicine Chromosome Mapping Clinical outcomes Genetic Predisposition to Disease Genetic Testing Genetics Genomes Genomics Human Genetics Humans Laboratory Medicine Librarians Meta-analysis psychologicaloutcomes Surgery Systematic Review variant of uncertain significance |
| title | Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-21T21%3A19%3A13IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Clinical%20and%20psychological%20outcomes%20of%20receiving%20a%20variant%20of%20uncertain%20significance%20from%20multigene%20panel%20testing%20or%20genomic%20sequencing:%20a%20systematic%20review%20and%20meta-analysis&rft.jtitle=Genetics%20in%20medicine&rft.au=Mighton,%20Chloe&rft.date=2021-01&rft.volume=23&rft.issue=1&rft.spage=22&rft.epage=33&rft.pages=22-33&rft.issn=1098-3600&rft.eissn=1530-0366&rft_id=info:doi/10.1038/s41436-020-00957-2&rft_dat=%3Cproquest_cross%3E2442599650%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2476049598&rft_id=info:pmid/32921787&rft_els_id=S1098360021025144&rfr_iscdi=true |