Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

Sarah Cunningham-Burley; Daniel L McCartney; Archie Campbell; Robin Flaig; Clare E L Orange; Carol Porteous; Mhairi Aitken; Ciaran Mulholland; Sara Davidson; Selena M McCafferty; Lee Murphy; Nicola Wrobel; Sarah McCafferty; Karen Wallace; David St Clair; Shona Kerr; Caroline Hayward; Andrew M McIntosh; Cathie Sudlow; Riccardo E Marioni; Jill Pell; Zosia Miedzybrodzka; David J Porteous

doi:10.1038/s43856-022-00189-2

Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

Sarah Cunningham-Burley^* (Corresponding Author), Daniel L McCartney, Archie Campbell, Robin Flaig, Clare E L Orange, Carol Porteous, Mhairi Aitken, Ciaran Mulholland, Sara Davidson, Selena M McCafferty, Lee Murphy, Nicola Wrobel, Sarah McCafferty, Karen Wallace, David St Clair, Shona Kerr, Caroline Hayward, Andrew M McIntosh, Cathie Sudlow, Riccardo E MarioniJill Pell, Zosia Miedzybrodzka, David J Porteous^* (Corresponding Author)

^*Corresponding author for this work

Applied Medicine

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

Abstract

BACKGROUND: Newborn heel prick blood spots are routinely used to screen for inborn errors of metabolism and life-limiting inherited disorders. The potential value of secondary data from newborn blood spot archives merits ethical consideration and assessment of feasibility for public benefit. Early life exposures and behaviours set health trajectories in childhood and later life. The newborn blood spot is potentially well placed to create an unbiased and cost-effective population-level retrospective birth cohort study. Scotland has retained newborn blood spots for all children born since 1965, around 3 million in total. However, a moratorium on research access is currently in place, pending public consultation.

METHODS: We conducted a Citizens' Jury as a first step to explore whether research use of newborn blood spots was in the public interest. We also assessed the feasibility and value of extracting research data from dried blood spots for predictive medicine.

RESULTS: Jurors delivered an agreed verdict that conditional research access to the newborn blood spots was in the public interest. The Chief Medical Officer for Scotland authorised restricted lifting of the current research moratorium to allow a feasibility study. Newborn blood spots from consented Generation Scotland volunteers were retrieved and their potential for both epidemiological and biological research demonstrated.

CONCLUSIONS: Through the Citizens' Jury, we have begun to identify under what conditions, if any, should researchers in Scotland be granted access to the archive. Through the feasibility study, we have demonstrated the potential value of research access for health data science and predictive medicine.

Original language	English
Article number	126
Number of pages	8
Journal	Communications Medicine
Volume	2
Early online date	6 Oct 2022
DOIs	https://doi.org/10.1038/s43856-022-00189-2
Publication status	Published - 6 Oct 2022

Bibliographical note

Acknowledgements
We thank Dr Tom Barlow, Scottish Government Chief Scientists Office for guidance and input into the feasibility studies described here; Dr Sarah Smith, Director of the National Screening Service for facilitating access to the Scottish newborn blood spot archive and sanctioning the work of the Greater Glasgow and Clyde Biorepository; Alexis Smith, Research Nurse at the Greater Glasgow and Clyde Biorepository; Caroline Clark, Mark Davidson and the NHS Grampian Genetics laboratory for technical support in the early feasibility studies, Dr Joan Mackenzie, NHS Scotland blood spot screening service and the Danish Newborn Screening Biorepository for technical advice and support for the pilot DNA sequencing of de-identified newborn blood spot punches. The Citizens’ Jury was funded by a Wellcome Trust Institutional Science Support Fund award to the University of Edinburgh (S.C.B. and D.J.P.). Generation Scotland received core support from the Chief Scientist Office of the Scottish Government Health Directorates [CZD/16/6] and the Scottish Funding Council [HR03006] and is currently supported by the Wellcome Trust [216767/Z/19/Z] award to D.J.P. Baseline DNA methylation was funded by the Wellcome Trust (Wellcome Trust Strategic Award “STratifying Resilience and Depression Longitudinally” (STRADL) Reference 104036/Z/14/Z and Investigator Award 220857/Z/20/Z to A.Mc.I.). The feasibility study was supported in part by HDRI Health Data Research UK substantive hub award (EDIN1) and Chief Scientist Office Scotland (ETM19). C.H. and S.K. are supported by the Medical Research Council University Unit award to the MRC Human Genetics Unit, University of Edinburgh, grant number MC_UU_00007/10, Programme MC_PC_U127592696.

Data Availability Statement

To access Generation Scotland data, including the data derived in the feasibility study described here, please go to www.ed.ac.uk/generation-scotland/for-researchers/access. Summary-level data analysed in this study (source data) has been deposited at https://www.github.com/marioni-group/guthrie.

Code availability
Code from this study, along with version information on the software used, has been deposited here: https://doi.org/10.5281/zenodo.70430566.

Supplementary information
The online version contains supplementary material available at https://doi.org/10.1038/s43856-022-00189-2.

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Cite this

Cunningham-Burley, S., McCartney, D. L., Campbell, A., Flaig, R., Orange, C. E. L., Porteous, C., Aitken, M., Mulholland, C., Davidson, S., McCafferty, S. M., Murphy, L., Wrobel, N., McCafferty, S., Wallace, K., St Clair, D., Kerr, S., Hayward, C., McIntosh, A. M., Sudlow, C., ... Porteous, D. J. (2022). Feasibility and ethics of using data from the Scottish newborn blood spot archive for research. Communications Medicine, 2, Article 126. https://doi.org/10.1038/s43856-022-00189-2

Cunningham-Burley, S, McCartney, DL, Campbell, A, Flaig, R, Orange, CEL, Porteous, C, Aitken, M, Mulholland, C, Davidson, S, McCafferty, SM, Murphy, L, Wrobel, N, McCafferty, S, Wallace, K, St Clair, D, Kerr, S, Hayward, C, McIntosh, AM, Sudlow, C, Marioni, RE, Pell, J, Miedzybrodzka, Z & Porteous, DJ 2022, 'Feasibility and ethics of using data from the Scottish newborn blood spot archive for research', Communications Medicine, vol. 2, 126. https://doi.org/10.1038/s43856-022-00189-2

@article{d5444359aef14be0873cdae289101372,

title = "Feasibility and ethics of using data from the Scottish newborn blood spot archive for research",

abstract = "BACKGROUND: Newborn heel prick blood spots are routinely used to screen for inborn errors of metabolism and life-limiting inherited disorders. The potential value of secondary data from newborn blood spot archives merits ethical consideration and assessment of feasibility for public benefit. Early life exposures and behaviours set health trajectories in childhood and later life. The newborn blood spot is potentially well placed to create an unbiased and cost-effective population-level retrospective birth cohort study. Scotland has retained newborn blood spots for all children born since 1965, around 3 million in total. However, a moratorium on research access is currently in place, pending public consultation.METHODS: We conducted a Citizens' Jury as a first step to explore whether research use of newborn blood spots was in the public interest. We also assessed the feasibility and value of extracting research data from dried blood spots for predictive medicine.RESULTS: Jurors delivered an agreed verdict that conditional research access to the newborn blood spots was in the public interest. The Chief Medical Officer for Scotland authorised restricted lifting of the current research moratorium to allow a feasibility study. Newborn blood spots from consented Generation Scotland volunteers were retrieved and their potential for both epidemiological and biological research demonstrated.CONCLUSIONS: Through the Citizens' Jury, we have begun to identify under what conditions, if any, should researchers in Scotland be granted access to the archive. Through the feasibility study, we have demonstrated the potential value of research access for health data science and predictive medicine.",

author = "Sarah Cunningham-Burley and McCartney, {Daniel L} and Archie Campbell and Robin Flaig and Orange, {Clare E L} and Carol Porteous and Mhairi Aitken and Ciaran Mulholland and Sara Davidson and McCafferty, {Selena M} and Lee Murphy and Nicola Wrobel and Sarah McCafferty and Karen Wallace and {St Clair}, David and Shona Kerr and Caroline Hayward and McIntosh, {Andrew M} and Cathie Sudlow and Marioni, {Riccardo E} and Jill Pell and Zosia Miedzybrodzka and Porteous, {David J}",

note = "Acknowledgements We thank Dr Tom Barlow, Scottish Government Chief Scientists Office for guidance and input into the feasibility studies described here; Dr Sarah Smith, Director of the National Screening Service for facilitating access to the Scottish newborn blood spot archive and sanctioning the work of the Greater Glasgow and Clyde Biorepository; Alexis Smith, Research Nurse at the Greater Glasgow and Clyde Biorepository; Caroline Clark, Mark Davidson and the NHS Grampian Genetics laboratory for technical support in the early feasibility studies, Dr Joan Mackenzie, NHS Scotland blood spot screening service and the Danish Newborn Screening Biorepository for technical advice and support for the pilot DNA sequencing of de-identified newborn blood spot punches. The Citizens{\textquoteright} Jury was funded by a Wellcome Trust Institutional Science Support Fund award to the University of Edinburgh (S.C.B. and D.J.P.). Generation Scotland received core support from the Chief Scientist Office of the Scottish Government Health Directorates [CZD/16/6] and the Scottish Funding Council [HR03006] and is currently supported by the Wellcome Trust [216767/Z/19/Z] award to D.J.P. Baseline DNA methylation was funded by the Wellcome Trust (Wellcome Trust Strategic Award “STratifying Resilience and Depression Longitudinally” (STRADL) Reference 104036/Z/14/Z and Investigator Award 220857/Z/20/Z to A.Mc.I.). The feasibility study was supported in part by HDRI Health Data Research UK substantive hub award (EDIN1) and Chief Scientist Office Scotland (ETM19). C.H. and S.K. are supported by the Medical Research Council University Unit award to the MRC Human Genetics Unit, University of Edinburgh, grant number MC_UU_00007/10, Programme MC_PC_U127592696.",

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T1 - Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

AU - Cunningham-Burley, Sarah

AU - McCartney, Daniel L

AU - Campbell, Archie

AU - Flaig, Robin

AU - Orange, Clare E L

AU - Porteous, Carol

AU - Aitken, Mhairi

AU - Mulholland, Ciaran

AU - Davidson, Sara

AU - McCafferty, Selena M

AU - Murphy, Lee

AU - Wrobel, Nicola

AU - McCafferty, Sarah

AU - Wallace, Karen

AU - St Clair, David

AU - Kerr, Shona

AU - Hayward, Caroline

AU - McIntosh, Andrew M

AU - Sudlow, Cathie

AU - Marioni, Riccardo E

AU - Pell, Jill

AU - Miedzybrodzka, Zosia

AU - Porteous, David J

N1 - Acknowledgements We thank Dr Tom Barlow, Scottish Government Chief Scientists Office for guidance and input into the feasibility studies described here; Dr Sarah Smith, Director of the National Screening Service for facilitating access to the Scottish newborn blood spot archive and sanctioning the work of the Greater Glasgow and Clyde Biorepository; Alexis Smith, Research Nurse at the Greater Glasgow and Clyde Biorepository; Caroline Clark, Mark Davidson and the NHS Grampian Genetics laboratory for technical support in the early feasibility studies, Dr Joan Mackenzie, NHS Scotland blood spot screening service and the Danish Newborn Screening Biorepository for technical advice and support for the pilot DNA sequencing of de-identified newborn blood spot punches. The Citizens’ Jury was funded by a Wellcome Trust Institutional Science Support Fund award to the University of Edinburgh (S.C.B. and D.J.P.). Generation Scotland received core support from the Chief Scientist Office of the Scottish Government Health Directorates [CZD/16/6] and the Scottish Funding Council [HR03006] and is currently supported by the Wellcome Trust [216767/Z/19/Z] award to D.J.P. Baseline DNA methylation was funded by the Wellcome Trust (Wellcome Trust Strategic Award “STratifying Resilience and Depression Longitudinally” (STRADL) Reference 104036/Z/14/Z and Investigator Award 220857/Z/20/Z to A.Mc.I.). The feasibility study was supported in part by HDRI Health Data Research UK substantive hub award (EDIN1) and Chief Scientist Office Scotland (ETM19). C.H. and S.K. are supported by the Medical Research Council University Unit award to the MRC Human Genetics Unit, University of Edinburgh, grant number MC_UU_00007/10, Programme MC_PC_U127592696.

PY - 2022/10/6

Y1 - 2022/10/6

N2 - BACKGROUND: Newborn heel prick blood spots are routinely used to screen for inborn errors of metabolism and life-limiting inherited disorders. The potential value of secondary data from newborn blood spot archives merits ethical consideration and assessment of feasibility for public benefit. Early life exposures and behaviours set health trajectories in childhood and later life. The newborn blood spot is potentially well placed to create an unbiased and cost-effective population-level retrospective birth cohort study. Scotland has retained newborn blood spots for all children born since 1965, around 3 million in total. However, a moratorium on research access is currently in place, pending public consultation.METHODS: We conducted a Citizens' Jury as a first step to explore whether research use of newborn blood spots was in the public interest. We also assessed the feasibility and value of extracting research data from dried blood spots for predictive medicine.RESULTS: Jurors delivered an agreed verdict that conditional research access to the newborn blood spots was in the public interest. The Chief Medical Officer for Scotland authorised restricted lifting of the current research moratorium to allow a feasibility study. Newborn blood spots from consented Generation Scotland volunteers were retrieved and their potential for both epidemiological and biological research demonstrated.CONCLUSIONS: Through the Citizens' Jury, we have begun to identify under what conditions, if any, should researchers in Scotland be granted access to the archive. Through the feasibility study, we have demonstrated the potential value of research access for health data science and predictive medicine.

AB - BACKGROUND: Newborn heel prick blood spots are routinely used to screen for inborn errors of metabolism and life-limiting inherited disorders. The potential value of secondary data from newborn blood spot archives merits ethical consideration and assessment of feasibility for public benefit. Early life exposures and behaviours set health trajectories in childhood and later life. The newborn blood spot is potentially well placed to create an unbiased and cost-effective population-level retrospective birth cohort study. Scotland has retained newborn blood spots for all children born since 1965, around 3 million in total. However, a moratorium on research access is currently in place, pending public consultation.METHODS: We conducted a Citizens' Jury as a first step to explore whether research use of newborn blood spots was in the public interest. We also assessed the feasibility and value of extracting research data from dried blood spots for predictive medicine.RESULTS: Jurors delivered an agreed verdict that conditional research access to the newborn blood spots was in the public interest. The Chief Medical Officer for Scotland authorised restricted lifting of the current research moratorium to allow a feasibility study. Newborn blood spots from consented Generation Scotland volunteers were retrieved and their potential for both epidemiological and biological research demonstrated.CONCLUSIONS: Through the Citizens' Jury, we have begun to identify under what conditions, if any, should researchers in Scotland be granted access to the archive. Through the feasibility study, we have demonstrated the potential value of research access for health data science and predictive medicine.

U2 - 10.1038/s43856-022-00189-2

DO - 10.1038/s43856-022-00189-2

M3 - Article

C2 - 36210800

SN - 2730-664X

VL - 2

JO - Communications Medicine

JF - Communications Medicine

M1 - 126

ER -

Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

Abstract

Bibliographical note

Data Availability Statement

Access to Document

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