Harmonizing outcomes for genomic medicine: Comparison of emerge outcomes to clingen outcome/intervention pairs

Janet L. Williams; Wendy K. Chung; Alex Fedotov; Krzysztof Kiryluk; Chunhua Weng; John J. Connolly; Margaret Harr; Hakon Hakonarson; Kathleen A. Leppig; Eric B. Larson; Gail P. Jarvik; David L. Veenstra; Christin Hoell; Maureen E. Smith; Ingrid A. Holm; Josh F. Peterson; Marc S. Williams

doi:10.3390/healthcare6030083

Harmonizing outcomes for genomic medicine: Comparison of emerge outcomes to clingen outcome/intervention pairs

Janet L. Williams, Wendy K. Chung, Alex Fedotov, Krzysztof Kiryluk, Chunhua Weng, John J. Connolly, Margaret Harr, Hakon Hakonarson, Kathleen A. Leppig, Eric B. Larson, Gail P. Jarvik, David L. Veenstra, Christin Hoell, Maureen E. Smith, Ingrid A. Holm, Josh F. Peterson, Marc S. Williams^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can be used across different programs to evaluate the impact of interventions targeted to specific genetic conditions. The eMERGE Outcomes working group (OWG) developed measures to collect information on outcomes following the return of genomic results to participants for several genetic disorders. These outcomes were compared to outcome intervention pairs for genetic disorders developed independently by the ClinGen Actionability working group (AWG). In general, there was concordance between the defined outcomes between the two groups. The ClinGen outcomes tended to be from a higher level and the AWG scored outcomes represented a subset of outcomes referenced in the accompanying AWG evidence review. eMERGE OWG outcomes were more detailed and discrete, facilitating a collection of relevant information from the health records. This paper demonstrates that common outcomes for genomic medicine interventions can be identified. Further work is needed to standardize outcomes across genomic medicine implementation projects and to make these publicly available to enhance dissemination and assist in making precision public health a reality.

Original language	English (US)
Article number	83
Journal	Healthcare (Switzerland)
Volume	6
Issue number	3
DOIs	https://doi.org/10.3390/healthcare6030083
State	Published - Sep 2018

Funding

Funding: This work was supported by U01HG8657 (Group Health Cooperative/University of Washington); U01HG8685 (Brigham and Women’s Hospital); U01HG8672 (Vanderbilt University Medical Center); U01HG8679 (Geisinger Clinic); U01HG8680 (Columbia University Health Sciences); U01HG8684 (Children’s Hospital of Philadelphia); U01HG8673 (Northwestern University); U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center). The results of this study show that it is possible to compare outcomes from two projects despite differences in the project objectives and methods. The important finding is that outcomes that are represented across multiple projects can be prioritized to harmonize the outcome definitions and develop guidance for their collection. This will facilitate the collection of prioritized outcomes from a wider set of research projects and clinical implementations, allowing evidence to accumulate at a faster rate to support clinical use. An example of the power of this type of approach for a genetic condition is cystic fibrosis (CF). Certified CF centers who receive funding from the CF Foundation are required to collect and submit many standard outcome measures. The outcomes are compared across sites and opportunities to improve care are identified, followed by implementation at the centers. This approach, which is also being used in other settings, has resulted in a dramatic improvement in multiple outcomes of interest for patients with CF [26]. The hope is that similar improvements in care could be realized across the many conditions for which genomic information can be used to inform care.

Keywords

ClinGen
EMERGE
Evidence
Genomic medicine
Genomics
Health outcomes
Precision public health
Standards

ASJC Scopus subject areas

Health Information Management
Health Policy
Health Informatics
Leadership and Management

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.3390/healthcare6030083

Cite this

Williams, J. L., Chung, W. K., Fedotov, A., Kiryluk, K., Weng, C., Connolly, J. J., Harr, M., Hakonarson, H., Leppig, K. A., Larson, E. B., Jarvik, G. P., Veenstra, D. L., Hoell, C., Smith, M. E., Holm, I. A., Peterson, J. F., & Williams, M. S. (2018). Harmonizing outcomes for genomic medicine: Comparison of emerge outcomes to clingen outcome/intervention pairs. Healthcare (Switzerland), 6(3), Article 83. https://doi.org/10.3390/healthcare6030083

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title = "Harmonizing outcomes for genomic medicine: Comparison of emerge outcomes to clingen outcome/intervention pairs",

abstract = "Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can be used across different programs to evaluate the impact of interventions targeted to specific genetic conditions. The eMERGE Outcomes working group (OWG) developed measures to collect information on outcomes following the return of genomic results to participants for several genetic disorders. These outcomes were compared to outcome intervention pairs for genetic disorders developed independently by the ClinGen Actionability working group (AWG). In general, there was concordance between the defined outcomes between the two groups. The ClinGen outcomes tended to be from a higher level and the AWG scored outcomes represented a subset of outcomes referenced in the accompanying AWG evidence review. eMERGE OWG outcomes were more detailed and discrete, facilitating a collection of relevant information from the health records. This paper demonstrates that common outcomes for genomic medicine interventions can be identified. Further work is needed to standardize outcomes across genomic medicine implementation projects and to make these publicly available to enhance dissemination and assist in making precision public health a reality.",

keywords = "ClinGen, EMERGE, Evidence, Genomic medicine, Genomics, Health outcomes, Precision public health, Standards",

author = "Williams, {Janet L.} and Chung, {Wendy K.} and Alex Fedotov and Krzysztof Kiryluk and Chunhua Weng and Connolly, {John J.} and Margaret Harr and Hakon Hakonarson and Leppig, {Kathleen A.} and Larson, {Eric B.} and Jarvik, {Gail P.} and Veenstra, {David L.} and Christin Hoell and Smith, {Maureen E.} and Holm, {Ingrid A.} and Peterson, {Josh F.} and Williams, {Marc S.}",

note = "Funding Information: Funding: This work was supported by U01HG8657 (Group Health Cooperative/University of Washington); U01HG8685 (Brigham and Women{\textquoteright}s Hospital); U01HG8672 (Vanderbilt University Medical Center); U01HG8679 (Geisinger Clinic); U01HG8680 (Columbia University Health Sciences); U01HG8684 (Children{\textquoteright}s Hospital of Philadelphia); U01HG8673 (Northwestern University); U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center). Funding Information: The results of this study show that it is possible to compare outcomes from two projects despite differences in the project objectives and methods. The important finding is that outcomes that are represented across multiple projects can be prioritized to harmonize the outcome definitions and develop guidance for their collection. This will facilitate the collection of prioritized outcomes from a wider set of research projects and clinical implementations, allowing evidence to accumulate at a faster rate to support clinical use. An example of the power of this type of approach for a genetic condition is cystic fibrosis (CF). Certified CF centers who receive funding from the CF Foundation are required to collect and submit many standard outcome measures. The outcomes are compared across sites and opportunities to improve care are identified, followed by implementation at the centers. This approach, which is also being used in other settings, has resulted in a dramatic improvement in multiple outcomes of interest for patients with CF [26]. The hope is that similar improvements in care could be realized across the many conditions for which genomic information can be used to inform care. Publisher Copyright: {\textcopyright} 2018 by the authors. Licensee MDPI, Basel, Switzerland. T.",

year = "2018",

month = sep,

doi = "10.3390/healthcare6030083",

language = "English (US)",

volume = "6",

journal = "Healthcare (Switzerland)",

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Williams, JL, Chung, WK, Fedotov, A, Kiryluk, K, Weng, C, Connolly, JJ, Harr, M, Hakonarson, H, Leppig, KA, Larson, EB, Jarvik, GP, Veenstra, DL, Hoell, C , Smith, ME, Holm, IA, Peterson, JF & Williams, MS 2018, 'Harmonizing outcomes for genomic medicine: Comparison of emerge outcomes to clingen outcome/intervention pairs', Healthcare (Switzerland), vol. 6, no. 3, 83. https://doi.org/10.3390/healthcare6030083

TY - JOUR

T1 - Harmonizing outcomes for genomic medicine

T2 - Comparison of emerge outcomes to clingen outcome/intervention pairs

AU - Williams, Janet L.

AU - Chung, Wendy K.

AU - Fedotov, Alex

AU - Kiryluk, Krzysztof

AU - Weng, Chunhua

AU - Connolly, John J.

AU - Harr, Margaret

AU - Hakonarson, Hakon

AU - Leppig, Kathleen A.

AU - Larson, Eric B.

AU - Jarvik, Gail P.

AU - Veenstra, David L.

AU - Hoell, Christin

AU - Smith, Maureen E.

AU - Holm, Ingrid A.

AU - Peterson, Josh F.

AU - Williams, Marc S.

N1 - Funding Information: Funding: This work was supported by U01HG8657 (Group Health Cooperative/University of Washington); U01HG8685 (Brigham and Women’s Hospital); U01HG8672 (Vanderbilt University Medical Center); U01HG8679 (Geisinger Clinic); U01HG8680 (Columbia University Health Sciences); U01HG8684 (Children’s Hospital of Philadelphia); U01HG8673 (Northwestern University); U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center). Funding Information: The results of this study show that it is possible to compare outcomes from two projects despite differences in the project objectives and methods. The important finding is that outcomes that are represented across multiple projects can be prioritized to harmonize the outcome definitions and develop guidance for their collection. This will facilitate the collection of prioritized outcomes from a wider set of research projects and clinical implementations, allowing evidence to accumulate at a faster rate to support clinical use. An example of the power of this type of approach for a genetic condition is cystic fibrosis (CF). Certified CF centers who receive funding from the CF Foundation are required to collect and submit many standard outcome measures. The outcomes are compared across sites and opportunities to improve care are identified, followed by implementation at the centers. This approach, which is also being used in other settings, has resulted in a dramatic improvement in multiple outcomes of interest for patients with CF [26]. The hope is that similar improvements in care could be realized across the many conditions for which genomic information can be used to inform care. Publisher Copyright: © 2018 by the authors. Licensee MDPI, Basel, Switzerland. T.

PY - 2018/9

Y1 - 2018/9

N2 - Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can be used across different programs to evaluate the impact of interventions targeted to specific genetic conditions. The eMERGE Outcomes working group (OWG) developed measures to collect information on outcomes following the return of genomic results to participants for several genetic disorders. These outcomes were compared to outcome intervention pairs for genetic disorders developed independently by the ClinGen Actionability working group (AWG). In general, there was concordance between the defined outcomes between the two groups. The ClinGen outcomes tended to be from a higher level and the AWG scored outcomes represented a subset of outcomes referenced in the accompanying AWG evidence review. eMERGE OWG outcomes were more detailed and discrete, facilitating a collection of relevant information from the health records. This paper demonstrates that common outcomes for genomic medicine interventions can be identified. Further work is needed to standardize outcomes across genomic medicine implementation projects and to make these publicly available to enhance dissemination and assist in making precision public health a reality.

AB - Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can be used across different programs to evaluate the impact of interventions targeted to specific genetic conditions. The eMERGE Outcomes working group (OWG) developed measures to collect information on outcomes following the return of genomic results to participants for several genetic disorders. These outcomes were compared to outcome intervention pairs for genetic disorders developed independently by the ClinGen Actionability working group (AWG). In general, there was concordance between the defined outcomes between the two groups. The ClinGen outcomes tended to be from a higher level and the AWG scored outcomes represented a subset of outcomes referenced in the accompanying AWG evidence review. eMERGE OWG outcomes were more detailed and discrete, facilitating a collection of relevant information from the health records. This paper demonstrates that common outcomes for genomic medicine interventions can be identified. Further work is needed to standardize outcomes across genomic medicine implementation projects and to make these publicly available to enhance dissemination and assist in making precision public health a reality.

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KW - EMERGE

KW - Evidence

KW - Genomic medicine

KW - Genomics

KW - Health outcomes

KW - Precision public health

KW - Standards

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JO - Healthcare (Switzerland)

JF - Healthcare (Switzerland)

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ER -

Harmonizing outcomes for genomic medicine: Comparison of emerge outcomes to clingen outcome/intervention pairs

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

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