Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outcomes and reduced costs of care. However, the feasib...
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| Veröffentlicht in: | American journal of human genetics 2021-07, Vol.108 (7), p.1231-1238 |
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| creator | Dimmock, David Caylor, Sara Waldman, Bryce Benson, Wendy Ashburner, Christina Carmichael, Jason L. Carroll, Jeanne Cham, Elaine Chowdhury, Shimul Cleary, John D’Harlingue, Arthur Doshi, A. Ellsworth, Katarzyna Galarreta, Carolina I. Hobbs, Charlotte Houtchens, Kathleen Hunt, Juliette Joe, Priscilla Joseph, Maries Kaplan, Robert H. Kingsmore, Stephen F. Knight, Jason Kochhar, Aaina Kronick, Richard G. Limon, Jolie Martin, Madelena Rauen, Katherine A. Schwarz, Adam Shankar, Suma P. Spicer, Rosanna Rojas, Mario Augusto Vargas-Shiraishi, Ofelia Wigby, Kristen Zadeh, Neda Farnaes, Lauge |
| description | Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outcomes and reduced costs of care. However, the feasibility of broad clinical deployment has not been established. The objective of this study was to implement RPM based on rWGS and evaluate the clinical and economic impact of this implementation as a first line diagnostic test in the California Medicaid (Medi-Cal) program. Project Baby Bear was a payor funded, prospective, real-world quality improvement project in the regional ICUs of five tertiary care children’s hospitals. Participation was limited to acutely ill Medi-Cal beneficiaries who were admitted November 2018 to May 2020, were |
| doi_str_mv | 10.1016/j.ajhg.2021.05.008 |
| format | Article |
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Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outcomes and reduced costs of care. However, the feasibility of broad clinical deployment has not been established. The objective of this study was to implement RPM based on rWGS and evaluate the clinical and economic impact of this implementation as a first line diagnostic test in the California Medicaid (Medi-Cal) program. Project Baby Bear was a payor funded, prospective, real-world quality improvement project in the regional ICUs of five tertiary care children’s hospitals. Participation was limited to acutely ill Medi-Cal beneficiaries who were admitted November 2018 to May 2020, were <1 year old and within one week of hospitalization, or had just developed an abnormal response to therapy. The whole cohort received RPM. There were two prespecified primary outcomes—changes in medical care reported by physicians and changes in the cost of care. The majority of infants were from underserved populations. Of 184 infants enrolled, 74 (40%) received a diagnosis by rWGS that explained their admission in a median time of 3 days. In 58 (32%) affected individuals, rWGS led to changes in medical care. Testing and precision medicine cost $1.7 million and led to $2.2–2.9 million cost savings. rWGS-based RPM had clinical utility and reduced net health care expenditures for infants in regional ICUs. rWGS should be considered early in ICU admission when the underlying etiology is unclear.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2021.05.008</identifier><identifier>PMID: 34089648</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>California ; Cohort Studies ; comparative effectiveness research ; Cost of Illness ; Critical Care ; Critical Illness - therapy ; Female ; genetic disease ; health outcomes research ; Hospitals, Pediatric ; Humans ; Infant ; Infant, Newborn ; Male ; Medicaid ; MediCal ; neonatal intensive care ; pediatrics ; Precision Medicine ; Prospective Studies ; quality improvement ; quality-adjusted life years ; QUALY ; rare disease ; real-world care ; Treatment Outcome ; United States ; Whole Genome Sequencing</subject><ispartof>American journal of human genetics, 2021-07, Vol.108 (7), p.1231-1238</ispartof><rights>2021 American Society of Human Genetics</rights><rights>Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</rights><rights>2021 American Society of Human Genetics. 2021 American Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c471t-665c3670a968747a45e62eebf66b78cb314925e8ac0ae8099f59413a1e5118073</citedby><cites>FETCH-LOGICAL-c471t-665c3670a968747a45e62eebf66b78cb314925e8ac0ae8099f59413a1e5118073</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8322922/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ajhg.2021.05.008$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,3550,27924,27925,45995,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34089648$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dimmock, David</creatorcontrib><creatorcontrib>Caylor, Sara</creatorcontrib><creatorcontrib>Waldman, Bryce</creatorcontrib><creatorcontrib>Benson, Wendy</creatorcontrib><creatorcontrib>Ashburner, Christina</creatorcontrib><creatorcontrib>Carmichael, Jason L.</creatorcontrib><creatorcontrib>Carroll, Jeanne</creatorcontrib><creatorcontrib>Cham, Elaine</creatorcontrib><creatorcontrib>Chowdhury, Shimul</creatorcontrib><creatorcontrib>Cleary, John</creatorcontrib><creatorcontrib>D’Harlingue, Arthur</creatorcontrib><creatorcontrib>Doshi, A.</creatorcontrib><creatorcontrib>Ellsworth, Katarzyna</creatorcontrib><creatorcontrib>Galarreta, Carolina I.</creatorcontrib><creatorcontrib>Hobbs, Charlotte</creatorcontrib><creatorcontrib>Houtchens, Kathleen</creatorcontrib><creatorcontrib>Hunt, Juliette</creatorcontrib><creatorcontrib>Joe, Priscilla</creatorcontrib><creatorcontrib>Joseph, Maries</creatorcontrib><creatorcontrib>Kaplan, Robert H.</creatorcontrib><creatorcontrib>Kingsmore, Stephen F.</creatorcontrib><creatorcontrib>Knight, Jason</creatorcontrib><creatorcontrib>Kochhar, Aaina</creatorcontrib><creatorcontrib>Kronick, Richard G.</creatorcontrib><creatorcontrib>Limon, Jolie</creatorcontrib><creatorcontrib>Martin, Madelena</creatorcontrib><creatorcontrib>Rauen, Katherine A.</creatorcontrib><creatorcontrib>Schwarz, Adam</creatorcontrib><creatorcontrib>Shankar, Suma P.</creatorcontrib><creatorcontrib>Spicer, Rosanna</creatorcontrib><creatorcontrib>Rojas, Mario Augusto</creatorcontrib><creatorcontrib>Vargas-Shiraishi, Ofelia</creatorcontrib><creatorcontrib>Wigby, Kristen</creatorcontrib><creatorcontrib>Zadeh, Neda</creatorcontrib><creatorcontrib>Farnaes, Lauge</creatorcontrib><title>Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outcomes and reduced costs of care. However, the feasibility of broad clinical deployment has not been established. The objective of this study was to implement RPM based on rWGS and evaluate the clinical and economic impact of this implementation as a first line diagnostic test in the California Medicaid (Medi-Cal) program. Project Baby Bear was a payor funded, prospective, real-world quality improvement project in the regional ICUs of five tertiary care children’s hospitals. Participation was limited to acutely ill Medi-Cal beneficiaries who were admitted November 2018 to May 2020, were <1 year old and within one week of hospitalization, or had just developed an abnormal response to therapy. The whole cohort received RPM. There were two prespecified primary outcomes—changes in medical care reported by physicians and changes in the cost of care. The majority of infants were from underserved populations. Of 184 infants enrolled, 74 (40%) received a diagnosis by rWGS that explained their admission in a median time of 3 days. In 58 (32%) affected individuals, rWGS led to changes in medical care. Testing and precision medicine cost $1.7 million and led to $2.2–2.9 million cost savings. rWGS-based RPM had clinical utility and reduced net health care expenditures for infants in regional ICUs. rWGS should be considered early in ICU admission when the underlying etiology is unclear.</description><subject>California</subject><subject>Cohort Studies</subject><subject>comparative effectiveness research</subject><subject>Cost of Illness</subject><subject>Critical Care</subject><subject>Critical Illness - therapy</subject><subject>Female</subject><subject>genetic disease</subject><subject>health outcomes research</subject><subject>Hospitals, Pediatric</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medicaid</subject><subject>MediCal</subject><subject>neonatal intensive care</subject><subject>pediatrics</subject><subject>Precision Medicine</subject><subject>Prospective Studies</subject><subject>quality improvement</subject><subject>quality-adjusted life years</subject><subject>QUALY</subject><subject>rare disease</subject><subject>real-world care</subject><subject>Treatment Outcome</subject><subject>United States</subject><subject>Whole Genome Sequencing</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kcuKFDEUhoMoTjv6Ai4kL9DlSapSFxHBaXRGGFC84DKkUqe6T1GdFEl1w-x8Dde-mU8yKVsH3bgK5D__fy4fY08FZAJE-XzIzLDbZhKkyEBlAPU9thIqr9ZlCeo-WwGAXDeyqc7YoxgHACFqyB-ys7yAuimLesV-fAh-QDvzC9Pe8As04QX_aCbq-BTQUiTvuDUBOTnrw-SDmcltefh6-Sl9ccU3ZqTeB0eG2x2NXUD389v3yHc-TjSbMfIO997FOTkxctpPwR-x43YkR9aM3B9m6_dJMq7jAbuDXVQf58h9_6v3Y_agT0H45Pd7zr68ffN5c7W-fn_5bvP6em2LSsxpaWXzsgLTlHVVVKZQWErEti_Ltqptm4uikQprY8FgDU3Tq6YQuRGolrtU-Tl7dcqdDu0eO4suDT3qKdDehBvtDel_FUc7vfVHXedSNlKmAHkKsMHHGLC_8wrQCzI96AWZXpBpUDohS6Znf3e9s_xhlApengow7X4kDDpaQpfORAnRrDtP_8u_BRU8rN4</recordid><startdate>20210701</startdate><enddate>20210701</enddate><creator>Dimmock, David</creator><creator>Caylor, Sara</creator><creator>Waldman, Bryce</creator><creator>Benson, Wendy</creator><creator>Ashburner, Christina</creator><creator>Carmichael, Jason L.</creator><creator>Carroll, Jeanne</creator><creator>Cham, Elaine</creator><creator>Chowdhury, Shimul</creator><creator>Cleary, John</creator><creator>D’Harlingue, Arthur</creator><creator>Doshi, A.</creator><creator>Ellsworth, Katarzyna</creator><creator>Galarreta, Carolina I.</creator><creator>Hobbs, Charlotte</creator><creator>Houtchens, Kathleen</creator><creator>Hunt, Juliette</creator><creator>Joe, Priscilla</creator><creator>Joseph, Maries</creator><creator>Kaplan, Robert H.</creator><creator>Kingsmore, Stephen F.</creator><creator>Knight, Jason</creator><creator>Kochhar, Aaina</creator><creator>Kronick, Richard G.</creator><creator>Limon, Jolie</creator><creator>Martin, Madelena</creator><creator>Rauen, Katherine A.</creator><creator>Schwarz, Adam</creator><creator>Shankar, Suma P.</creator><creator>Spicer, Rosanna</creator><creator>Rojas, Mario Augusto</creator><creator>Vargas-Shiraishi, Ofelia</creator><creator>Wigby, Kristen</creator><creator>Zadeh, Neda</creator><creator>Farnaes, Lauge</creator><general>Elsevier Inc</general><general>Elsevier</general><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>5PM</scope></search><sort><creationdate>20210701</creationdate><title>Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care</title><author>Dimmock, David ; Caylor, Sara ; Waldman, Bryce ; Benson, Wendy ; Ashburner, Christina ; Carmichael, Jason L. ; Carroll, Jeanne ; Cham, Elaine ; Chowdhury, Shimul ; Cleary, John ; D’Harlingue, Arthur ; Doshi, A. ; Ellsworth, Katarzyna ; Galarreta, Carolina I. ; Hobbs, Charlotte ; Houtchens, Kathleen ; Hunt, Juliette ; Joe, Priscilla ; Joseph, Maries ; Kaplan, Robert H. ; Kingsmore, Stephen F. ; Knight, Jason ; Kochhar, Aaina ; Kronick, Richard G. ; Limon, Jolie ; Martin, Madelena ; Rauen, Katherine A. ; Schwarz, Adam ; Shankar, Suma P. ; Spicer, Rosanna ; Rojas, Mario Augusto ; Vargas-Shiraishi, Ofelia ; Wigby, Kristen ; Zadeh, Neda ; Farnaes, Lauge</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c471t-665c3670a968747a45e62eebf66b78cb314925e8ac0ae8099f59413a1e5118073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>California</topic><topic>Cohort Studies</topic><topic>comparative effectiveness research</topic><topic>Cost of Illness</topic><topic>Critical Care</topic><topic>Critical Illness - 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Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outcomes and reduced costs of care. However, the feasibility of broad clinical deployment has not been established. The objective of this study was to implement RPM based on rWGS and evaluate the clinical and economic impact of this implementation as a first line diagnostic test in the California Medicaid (Medi-Cal) program. Project Baby Bear was a payor funded, prospective, real-world quality improvement project in the regional ICUs of five tertiary care children’s hospitals. Participation was limited to acutely ill Medi-Cal beneficiaries who were admitted November 2018 to May 2020, were <1 year old and within one week of hospitalization, or had just developed an abnormal response to therapy. The whole cohort received RPM. There were two prespecified primary outcomes—changes in medical care reported by physicians and changes in the cost of care. The majority of infants were from underserved populations. Of 184 infants enrolled, 74 (40%) received a diagnosis by rWGS that explained their admission in a median time of 3 days. In 58 (32%) affected individuals, rWGS led to changes in medical care. Testing and precision medicine cost $1.7 million and led to $2.2–2.9 million cost savings. rWGS-based RPM had clinical utility and reduced net health care expenditures for infants in regional ICUs. rWGS should be considered early in ICU admission when the underlying etiology is unclear.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>34089648</pmid><doi>10.1016/j.ajhg.2021.05.008</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | American journal of human genetics, 2021-07, Vol.108 (7), p.1231-1238 |
| issn | 0002-9297 1537-6605 |
| language | eng |
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| source | MEDLINE; Cell Press Free Archives; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Access via ScienceDirect (Elsevier); PubMed Central |
| subjects | California Cohort Studies comparative effectiveness research Cost of Illness Critical Care Critical Illness - therapy Female genetic disease health outcomes research Hospitals, Pediatric Humans Infant Infant, Newborn Male Medicaid MediCal neonatal intensive care pediatrics Precision Medicine Prospective Studies quality improvement quality-adjusted life years QUALY rare disease real-world care Treatment Outcome United States Whole Genome Sequencing |
| title | Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care |
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