Reliability of Ancestry-specific Prostate Cancer Genetic Risk Score in Four Racial and Ethnic Populations

Shi, Zhuqing; Zhan, Junpeng; Wei, Jun; Ladson-Gary, Skylar; Wang, Chi‐Hsiung; Hulick, Peter J.; Zheng, S. Lilly; Cooney, Kathleen A.; Isaacs, William B.; Helfand, Brian T.; Koelsch, Bertram L.; Xu, Jianfeng

doi:10.1016/j.euros.2022.09.001

Cited by 3 publications

(1 citation statement)

References 31 publications

(57 reference statements)

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“…The development and clinical implementation of polygenic risk score (PRS) is a core translational research focus of PMED. Initial efforts focused on prostate cancer PRS and its clinical validity in multiple ancestral populations ( Shi et al, 2021 ; Shi et al, 2022 ) and then expanded to additional conditions ( Ahmed et al, 2022 ; Wei et al, 2022a ; Glaser et al, 2022 ; Billings et al, 2023 ; Patel et al, 2023 ; Shi et al, 2023 ), including other cancer types ( Shi et al, 2019 ; Northcutt et al, 2021 ; Wei et al, 2022b ). Recently, our efforts have centered on the clinical implementation of PRS.…”

Section: Methodsmentioning

confidence: 99%

Personalized medicine in a community health system: the NorthShore experience

David,

Dunnenberger,

Choi

et al. 2023

Front. Genet.

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Genomic and personalized medicine implementation efforts have largely centered on specialty care in tertiary health systems. There are few examples of fully integrated care systems that span the healthcare continuum. In 2014, NorthShore University HealthSystem launched the Center for Personalized Medicine to catalyze the delivery of personalized medicine. Successful implementation required the development of a scalable family history collection tool, the Genetic and Wellness Assessment (GWA) and Breast Health Assessment (BHA) tools; integrated pharmacogenomics programming; educational programming; electronic medical record integration; and robust clinical decision support tools. To date, more than 225,000 patients have been screened for increased hereditary conditions, such as cancer risk, through these tools in primary care. More than 35,000 patients completed clinical genetic testing following GWA or BHA completion. An innovative program trained more than 100 primary care providers in genomic medicine, activated with clinical decision support and access to patient genetic counseling services and digital healthcare tools. The development of a novel bioinformatics platform (FLYPE) enabled the incorporation of genomics data into electronic medical records. To date, over 4,000 patients have been identified to have a pathogenic or likely pathogenic variant in a gene with medical management implications. Over 33,000 patients have clinical pharmacogenomics data incorporated into the electronic health record supported by clinical decision support tools. This manuscript describes the evolution, strategy, and successful multispecialty partnerships aligned with health system leadership that enabled the implementation of a comprehensive personalized medicine program with measurable patient outcomes through a genomics-enabled learning health system model that utilizes implementation science frameworks.

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