Haematological setpoints are a stable and patient-specific deep phenotype

Bibliographic Details
Title:	Haematological setpoints are a stable and patient-specific deep phenotype
Authors:	Foy, Brody H., Petherbridge, Rachel, Roth, Maxwell T., Zhang, Cindy, De Souza, Daniel C., Mow, Christopher, Patel, Hasmukh R., Patel, Chhaya H., Ho, Samantha N., Lam, Evie, Powe, Camille E., Hasserjian, Robert P., Karczewski, Konrad J., Tozzo, Veronica, Higgins, John M.
Source:	Nature; January 2025, Vol. 637 Issue: 8045 p430-438, 9p
Abstract:	The complete blood count (CBC) is an important screening tool for healthy adults and a common test at periodic exams. However, results are usually interpreted relative to one-size-fits-all reference intervals1,2, undermining the precision medicine goal to tailor care for patients on the basis of their unique characteristics3,4. Here we study thousands of diverse patients at an academic medical centre and show that routine CBC indices fluctuate around stable values or setpoints5, and setpoints are patient-specific, with the typical healthy adult’s nine CBC setpoints distinguishable as a group from those of 98% of other healthy adults, and setpoint differences persist for at least 20 years. Haematological setpoints reflect a deep physiologic phenotype enabling investigation of acquired and genetic determinants of haematological regulation and its variation among healthy adults. Setpoints in apparently healthy adults were associated with significant variation in clinical risk: absolute risk of some common diseases and morbidities varied by more than 2% (heart attack and stroke, diabetes, kidney disease, osteoporosis), and absolute risk of all-cause 10 year mortality varied by more than 5%. Setpoints also define patient-specific reference intervals and personalize the interpretation of subsequent test results. In retrospective analysis, setpoints improved sensitivity and specificity for evaluation of some common conditions including diabetes, kidney disease, thyroid dysfunction, iron deficiency and myeloproliferative neoplasms. This study shows CBC setpoints are sufficiently stable and patient-specific to help realize the promise of precision medicine for healthy adults.
Database:	Supplemental Index

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Items	– Name: Title Label: Title Group: Ti Data: Haematological setpoints are a stable and patient-specific deep phenotype – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Foy%2C+Brody+H%2E%22">Foy, Brody H.</searchLink><br /><searchLink fieldCode="AR" term="%22Petherbridge%2C+Rachel%22">Petherbridge, Rachel</searchLink><br /><searchLink fieldCode="AR" term="%22Roth%2C+Maxwell+T%2E%22">Roth, Maxwell T.</searchLink><br /><searchLink fieldCode="AR" term="%22Zhang%2C+Cindy%22">Zhang, Cindy</searchLink><br /><searchLink fieldCode="AR" term="%22De+Souza%2C+Daniel+C%2E%22">De Souza, Daniel C.</searchLink><br /><searchLink fieldCode="AR" term="%22Mow%2C+Christopher%22">Mow, Christopher</searchLink><br /><searchLink fieldCode="AR" term="%22Patel%2C+Hasmukh+R%2E%22">Patel, Hasmukh R.</searchLink><br /><searchLink fieldCode="AR" term="%22Patel%2C+Chhaya+H%2E%22">Patel, Chhaya H.</searchLink><br /><searchLink fieldCode="AR" term="%22Ho%2C+Samantha+N%2E%22">Ho, Samantha N.</searchLink><br /><searchLink fieldCode="AR" term="%22Lam%2C+Evie%22">Lam, Evie</searchLink><br /><searchLink fieldCode="AR" term="%22Powe%2C+Camille+E%2E%22">Powe, Camille E.</searchLink><br /><searchLink fieldCode="AR" term="%22Hasserjian%2C+Robert+P%2E%22">Hasserjian, Robert P.</searchLink><br /><searchLink fieldCode="AR" term="%22Karczewski%2C+Konrad+J%2E%22">Karczewski, Konrad J.</searchLink><br /><searchLink fieldCode="AR" term="%22Tozzo%2C+Veronica%22">Tozzo, Veronica</searchLink><br /><searchLink fieldCode="AR" term="%22Higgins%2C+John+M%2E%22">Higgins, John M.</searchLink> – Name: TitleSource Label: Source Group: Src Data: Nature; January 2025, Vol. 637 Issue: 8045 p430-438, 9p – Name: Abstract Label: Abstract Group: Ab Data: The complete blood count (CBC) is an important screening tool for healthy adults and a common test at periodic exams. However, results are usually interpreted relative to one-size-fits-all reference intervals1,2, undermining the precision medicine goal to tailor care for patients on the basis of their unique characteristics3,4. Here we study thousands of diverse patients at an academic medical centre and show that routine CBC indices fluctuate around stable values or setpoints5, and setpoints are patient-specific, with the typical healthy adult’s nine CBC setpoints distinguishable as a group from those of 98% of other healthy adults, and setpoint differences persist for at least 20 years. Haematological setpoints reflect a deep physiologic phenotype enabling investigation of acquired and genetic determinants of haematological regulation and its variation among healthy adults. Setpoints in apparently healthy adults were associated with significant variation in clinical risk: absolute risk of some common diseases and morbidities varied by more than 2% (heart attack and stroke, diabetes, kidney disease, osteoporosis), and absolute risk of all-cause 10 year mortality varied by more than 5%. Setpoints also define patient-specific reference intervals and personalize the interpretation of subsequent test results. In retrospective analysis, setpoints improved sensitivity and specificity for evaluation of some common conditions including diabetes, kidney disease, thyroid dysfunction, iron deficiency and myeloproliferative neoplasms. This study shows CBC setpoints are sufficiently stable and patient-specific to help realize the promise of precision medicine for healthy adults.
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RecordInfo	BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41586-024-08264-5 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 9 StartPage: 430 Titles: – TitleFull: Haematological setpoints are a stable and patient-specific deep phenotype Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Foy, Brody H. – PersonEntity: Name: NameFull: Petherbridge, Rachel – PersonEntity: Name: NameFull: Roth, Maxwell T. – PersonEntity: Name: NameFull: Zhang, Cindy – PersonEntity: Name: NameFull: De Souza, Daniel C. – PersonEntity: Name: NameFull: Mow, Christopher – PersonEntity: Name: NameFull: Patel, Hasmukh R. – PersonEntity: Name: NameFull: Patel, Chhaya H. – PersonEntity: Name: NameFull: Ho, Samantha N. – PersonEntity: Name: NameFull: Lam, Evie – PersonEntity: Name: NameFull: Powe, Camille E. – PersonEntity: Name: NameFull: Hasserjian, Robert P. – PersonEntity: Name: NameFull: Karczewski, Konrad J. – PersonEntity: Name: NameFull: Tozzo, Veronica – PersonEntity: Name: NameFull: Higgins, John M. IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 01 Text: January 2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 00280836 – Type: issn-print Value: 14764687 Numbering: – Type: volume Value: 637 – Type: issue Value: 8045 Titles: – TitleFull: Nature Type: main
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