Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs

Purpose: To accurately ascertain the frequency of pathogenic germline variants (PGVs) in a pan-cancer patient population with universal genetic testing and to assess the economic impact of receiving genetic testing on healthcare costs. Methods: In this prospective study, germline genetic testing usi...

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Autores principales:	Adrienne T. Perkins, Derrick Haslem, Jessica Goldsberry, Katherine Shortt, Laura Sittig, Sharanya Raghunath, Christopher Giauque, Shawnee Snow, Gail Fulde, Bryce Moulton, David Jones, Lincoln Nadauld
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	hereditary cancer healthcare costs precision oncology pathogenic germline variants germline testing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/caf8a4a6468242518ce58803bfb254a7
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spelling	oai:doaj.org-article:caf8a4a6468242518ce58803bfb254a72021-11-25T17:01:34ZUniversal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs10.3390/cancers132256122072-6694https://doaj.org/article/caf8a4a6468242518ce58803bfb254a72021-11-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/22/5612https://doaj.org/toc/2072-6694Purpose: To accurately ascertain the frequency of pathogenic germline variants (PGVs) in a pan-cancer patient population with universal genetic testing and to assess the economic impact of receiving genetic testing on healthcare costs. Methods: In this prospective study, germline genetic testing using a 105-gene panel was administered to an unselected pan-cancer patient population irrespective of eligibility by current guidelines. Financial records of subjects were analyzed to assess the effect of PGV detection on cost of care one year from the date of testing. Results: A total of 284 patients participated in this study, of which 44 patients (15%) tested positive for a PGV in 14 different cancer types. Of the patients with PGVs, 23 patients (52%) were ineligible for testing by current guidelines. Identification of a PGV did not increase cost of care. Conclusion: Implementation of universal genetic testing for cancer patients in the clinic, beyond that specified by current guidelines, is necessary to accurately assess and treat hereditary cancer syndromes and does not increase healthcare costs.Adrienne T. PerkinsDerrick HaslemJessica GoldsberryKatherine ShorttLaura SittigSharanya RaghunathChristopher GiauqueShawnee SnowGail FuldeBryce MoultonDavid JonesLincoln NadauldMDPI AGarticlehereditary cancerhealthcare costsprecision oncologypathogenic germline variantsgermline testingNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5612, p 5612 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	hereditary cancer healthcare costs precision oncology pathogenic germline variants germline testing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	hereditary cancer healthcare costs precision oncology pathogenic germline variants germline testing Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Adrienne T. Perkins Derrick Haslem Jessica Goldsberry Katherine Shortt Laura Sittig Sharanya Raghunath Christopher Giauque Shawnee Snow Gail Fulde Bryce Moulton David Jones Lincoln Nadauld Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs
description	Purpose: To accurately ascertain the frequency of pathogenic germline variants (PGVs) in a pan-cancer patient population with universal genetic testing and to assess the economic impact of receiving genetic testing on healthcare costs. Methods: In this prospective study, germline genetic testing using a 105-gene panel was administered to an unselected pan-cancer patient population irrespective of eligibility by current guidelines. Financial records of subjects were analyzed to assess the effect of PGV detection on cost of care one year from the date of testing. Results: A total of 284 patients participated in this study, of which 44 patients (15%) tested positive for a PGV in 14 different cancer types. Of the patients with PGVs, 23 patients (52%) were ineligible for testing by current guidelines. Identification of a PGV did not increase cost of care. Conclusion: Implementation of universal genetic testing for cancer patients in the clinic, beyond that specified by current guidelines, is necessary to accurately assess and treat hereditary cancer syndromes and does not increase healthcare costs.
format	article
author	Adrienne T. Perkins Derrick Haslem Jessica Goldsberry Katherine Shortt Laura Sittig Sharanya Raghunath Christopher Giauque Shawnee Snow Gail Fulde Bryce Moulton David Jones Lincoln Nadauld
author_facet	Adrienne T. Perkins Derrick Haslem Jessica Goldsberry Katherine Shortt Laura Sittig Sharanya Raghunath Christopher Giauque Shawnee Snow Gail Fulde Bryce Moulton David Jones Lincoln Nadauld
author_sort	Adrienne T. Perkins
title	Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs
title_short	Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs
title_full	Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs
title_fullStr	Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs
title_full_unstemmed	Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs
title_sort	universal germline testing of unselected cancer patients detects pathogenic variants missed by standard guidelines without increasing healthcare costs
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/caf8a4a6468242518ce58803bfb254a7
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Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs

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