Limitations of the commercially available gene expression test in predicting cutaneous squamous cell carcinoma metastasis and clinical outcomes
Clinical genetic tests are integral to healthcare decision-making. To critically evaluate the DecisionDx cutaneous squamous cell carcinoma test by Castle Biosciences for its dataset biases, gene panel selection, and reported accuracy metrics, providing insight into broader challenges in the clinical...
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| creator | Sax, Joel L. McFarland, Christopher D. Carroll, Bryan T. |
| description | Clinical genetic tests are integral to healthcare decision-making.
To critically evaluate the DecisionDx cutaneous squamous cell carcinoma test by Castle Biosciences for its dataset biases, gene panel selection, and reported accuracy metrics, providing insight into broader challenges in the clinical genetic testing landscape.
Independent analyses of the DecisionDx-SCC 40-GEP test data from Castle Biosciences were conducted. These included comparisons to clinical genetic testing standards, analysis of prevalence metrics against national cutaneous squamous cell carcinoma (cSCC) rates, gene ontology of 34 genes for cSCC associations, and evaluation of accuracy metrics.
The DecisionDx-SCC dataset showed a metastasis prevalence higher than the national average. Out of 34 genes, 15 had known associations with cSCC. Inconsistencies in the presentation of accuracy metrics were noted, particularly in moderate and high-risk stratifications.
Analysis of DecisionDx-SCC indicates potential biases and ambiguities. This highlights the need for systematic validation, stressing the necessity for precise and dependable genetic testing in patient care. |
| doi_str_mv | 10.1016/j.jaad.2024.05.014 |
| format | Article |
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To critically evaluate the DecisionDx cutaneous squamous cell carcinoma test by Castle Biosciences for its dataset biases, gene panel selection, and reported accuracy metrics, providing insight into broader challenges in the clinical genetic testing landscape.
Independent analyses of the DecisionDx-SCC 40-GEP test data from Castle Biosciences were conducted. These included comparisons to clinical genetic testing standards, analysis of prevalence metrics against national cutaneous squamous cell carcinoma (cSCC) rates, gene ontology of 34 genes for cSCC associations, and evaluation of accuracy metrics.
The DecisionDx-SCC dataset showed a metastasis prevalence higher than the national average. Out of 34 genes, 15 had known associations with cSCC. Inconsistencies in the presentation of accuracy metrics were noted, particularly in moderate and high-risk stratifications.
Analysis of DecisionDx-SCC indicates potential biases and ambiguities. This highlights the need for systematic validation, stressing the necessity for precise and dependable genetic testing in patient care.</description><identifier>ISSN: 0190-9622</identifier><identifier>ISSN: 1097-6787</identifier><identifier>EISSN: 1097-6787</identifier><identifier>DOI: 10.1016/j.jaad.2024.05.014</identifier><identifier>PMID: 38762012</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>cancer biology ; clinical genetics ; cutaneous squamous cell carcinoma ; dermatology ; gene expression ; genomics</subject><ispartof>Journal of the American Academy of Dermatology, 2024-05</ispartof><rights>2024 American Academy of Dermatology, Inc.</rights><rights>Copyright © 2024 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c1522-3a31eb46fd7335cb10f4c17be540fc85458fa944ddc3f91a8aceae8a8c1b95563</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0190962224007461$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38762012$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sax, Joel L.</creatorcontrib><creatorcontrib>McFarland, Christopher D.</creatorcontrib><creatorcontrib>Carroll, Bryan T.</creatorcontrib><title>Limitations of the commercially available gene expression test in predicting cutaneous squamous cell carcinoma metastasis and clinical outcomes</title><title>Journal of the American Academy of Dermatology</title><addtitle>J Am Acad Dermatol</addtitle><description>Clinical genetic tests are integral to healthcare decision-making.
To critically evaluate the DecisionDx cutaneous squamous cell carcinoma test by Castle Biosciences for its dataset biases, gene panel selection, and reported accuracy metrics, providing insight into broader challenges in the clinical genetic testing landscape.
Independent analyses of the DecisionDx-SCC 40-GEP test data from Castle Biosciences were conducted. These included comparisons to clinical genetic testing standards, analysis of prevalence metrics against national cutaneous squamous cell carcinoma (cSCC) rates, gene ontology of 34 genes for cSCC associations, and evaluation of accuracy metrics.
The DecisionDx-SCC dataset showed a metastasis prevalence higher than the national average. Out of 34 genes, 15 had known associations with cSCC. Inconsistencies in the presentation of accuracy metrics were noted, particularly in moderate and high-risk stratifications.
Analysis of DecisionDx-SCC indicates potential biases and ambiguities. This highlights the need for systematic validation, stressing the necessity for precise and dependable genetic testing in patient care.</description><subject>cancer biology</subject><subject>clinical genetics</subject><subject>cutaneous squamous cell carcinoma</subject><subject>dermatology</subject><subject>gene expression</subject><subject>genomics</subject><issn>0190-9622</issn><issn>1097-6787</issn><issn>1097-6787</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp9kV2L1TAQhoMo7nH1D3ghufSmNWk-2oI3svgFB7zR6zCdTtccmvRsky7ur_Avm3JWL4WBDOGZdz5exl5LUUsh7btTfQIY60Y0uhamFlI_YQcp-raybdc-ZQche1H1tmmu2IuUTkKIXqv2ObtSXWsbIZsD-330wWfIfomJLxPPP4njEgKt6GGeHzjcg59hmInfUiROv84rpVRwnill7iMvH6PH7OMtxy1DpGVLPN1tEPYEaZ45QpGLSwAeKEMq4ROHOHKcffQIM1-2XNpSesmeTTAnevX4XrMfnz5-v_lSHb99_nrz4VihNE1TKVCSBm2nsVXK4CDFpFG2AxktJuyMNt0EvdbjiGrqJXSABNRBh3LojbHqmr296J7X5W4rm7jg0z7rZX6nhLHWaqV1QZsLiuuS0kqTO68-wPrgpHC7Ee7kdiPcboQTxhUjStGbR_1tCDT-K_l7-QK8vwBUtrz3tLqEniKWW66E2Y2L_5_-Hxz5nfM</recordid><startdate>20240516</startdate><enddate>20240516</enddate><creator>Sax, Joel L.</creator><creator>McFarland, Christopher D.</creator><creator>Carroll, Bryan T.</creator><general>Elsevier Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20240516</creationdate><title>Limitations of the commercially available gene expression test in predicting cutaneous squamous cell carcinoma metastasis and clinical outcomes</title><author>Sax, Joel L. ; McFarland, Christopher D. ; Carroll, Bryan T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c1522-3a31eb46fd7335cb10f4c17be540fc85458fa944ddc3f91a8aceae8a8c1b95563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>cancer biology</topic><topic>clinical genetics</topic><topic>cutaneous squamous cell carcinoma</topic><topic>dermatology</topic><topic>gene expression</topic><topic>genomics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sax, Joel L.</creatorcontrib><creatorcontrib>McFarland, Christopher D.</creatorcontrib><creatorcontrib>Carroll, Bryan T.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the American Academy of Dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sax, Joel L.</au><au>McFarland, Christopher D.</au><au>Carroll, Bryan T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Limitations of the commercially available gene expression test in predicting cutaneous squamous cell carcinoma metastasis and clinical outcomes</atitle><jtitle>Journal of the American Academy of Dermatology</jtitle><addtitle>J Am Acad Dermatol</addtitle><date>2024-05-16</date><risdate>2024</risdate><issn>0190-9622</issn><issn>1097-6787</issn><eissn>1097-6787</eissn><abstract>Clinical genetic tests are integral to healthcare decision-making.
To critically evaluate the DecisionDx cutaneous squamous cell carcinoma test by Castle Biosciences for its dataset biases, gene panel selection, and reported accuracy metrics, providing insight into broader challenges in the clinical genetic testing landscape.
Independent analyses of the DecisionDx-SCC 40-GEP test data from Castle Biosciences were conducted. These included comparisons to clinical genetic testing standards, analysis of prevalence metrics against national cutaneous squamous cell carcinoma (cSCC) rates, gene ontology of 34 genes for cSCC associations, and evaluation of accuracy metrics.
The DecisionDx-SCC dataset showed a metastasis prevalence higher than the national average. Out of 34 genes, 15 had known associations with cSCC. Inconsistencies in the presentation of accuracy metrics were noted, particularly in moderate and high-risk stratifications.
Analysis of DecisionDx-SCC indicates potential biases and ambiguities. This highlights the need for systematic validation, stressing the necessity for precise and dependable genetic testing in patient care.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>38762012</pmid><doi>10.1016/j.jaad.2024.05.014</doi></addata></record> |
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| source | Elsevier ScienceDirect Journals |
| subjects | cancer biology clinical genetics cutaneous squamous cell carcinoma dermatology gene expression genomics |
| title | Limitations of the commercially available gene expression test in predicting cutaneous squamous cell carcinoma metastasis and clinical outcomes |
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