Dr Sowmiya Moorthie
Senior Policy Analyst (Epidemiology)
Sowmiya is a Senior Policy Analyst (Epidemiology) and is responsible for the development and delivery projects with an epidemiological and scientific focus. Her interest is in effective use of scientific knowledge to improve the health of individuals and populations. Sowmiya works with both local and international experts to identify opportunities for health technology implementation and develop policy for science and public health.
Sowmiya has extensive experience in policy development for science and public health and has contributed to a wide range of PHG Foundation projects, including work on personalised prevention, whole genome sequencing, congenital disorders, newborn screening and prenatal diagnosis. More recently, she has been leading PHG Foundation’s work as part of B-CAST, an EU Horizon 2020 project, carrying out research and analysis to examine the capacity development for personalised breast cancer prevention. She also leads our scientific work on polygenic scores.
Sowmiya has a PhD from the University of Cambridge and a Masters in Epidemiology from the London School of Hygiene and Tropical Medicine. She is an associate editor for the Journal of Community Genetics and a research associate working for Cambridge Public Health examining better use of data for population health.
- Reports
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Implementing polygenic scores for cardiovascular disease into NHS Health Checks
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Personalising breast cancer prevention – bridging the gap between research and policy
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Personalised prevention in breast cancer – the policy landscape
- Policy briefings
- Blogs
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Prevention gaining ground in the battle against breast cancer
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Personalised prevention in breast cancer – the policy landscape
- News
- Journal papers
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Public Preferences for Determining Eligibility for Screening in Risk-Stratified Cancer Screening Programs: A Discrete Choice Experiment. Dennison RA, Taylor LC, Morris S, Boscott RA, Harrison H, Moorthie SA, Rossi SH, Stewart GD, Usher-Smith JA. Med Decis Making. 2023 Feb 14:272989X231155790. doi: 10.1177/0272989X231155790. Online ahead of print
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Proactive breast cancer risk assessment in primary care: a review based on the principles of screening. Usher-Smith JA, Hindmarch S, French DP, Tischkowitz M, Moorthie S, Walter FM, Dennison RA, Stutzin Donoso F, Archer S, Taylor L, Emery J, Morris S, Easton DF, Antoniou AC.
Br J Cancer. 2023 Feb 3:1-11. doi: 10.1038/s41416-023-02145-w. Online ahead of print. -
A Scoping Review of Approaches to Improving Quality of Data Relating to Health Inequalities. Moorthie S, Peacey V, Evans S, Phillips V, Roman-Urrestarazu A, Brayne C, Lafortune L.
Int J Environ Res Public Health. 2022 Nov 29;19(23):15874. doi: 10.3390/ijerph192315874 -
Moorthie S, Hayat S, Zhang Y, Parkin K, Philips V, Bale A, Duschinsky R, Ford T, Moore A.
BMC Public Health. 2022 Jun 28;22(1):1263. doi: 10.1186/s12889-022-13187-9. -
Dennison R.A., Boscott R.A., Thomas R, Griffin S.J., Harrison H, John S.D., Moorthie S.A., Morris S, Rossi S.H., Stewart G.D., Thomas C.V., Usher-Smith J.A.. Health Expect. 8 May 2022.
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Moorthie S, Babb de Villiers C, Burton H, Kroese M, Antoniou A.C., Bhattacharjee P, Garcia-Closas M, Hall P, Schmidt M.K.. Preventive Medicine, Vol 159. 6 May 2022.
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Schmutzler R.K., Schmitz-Luhn B, Borisch B, Devilee P, Eccles D, Hall P, Balmaña J, Boccia S, Dabrock P, Emons G, Gaissmaier W, Gronwald J, Houwaart S, Huster S, Kast K, Katalinic A, Linn S.C., Moorthie S, Pharoah P, Rhiem K, Spranger T, Stoppa-Lyonnet D, van Delden J.J.M., van den Bulcke M, Woopen C. Breast Care. April 2022.
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Moorthie S, Hall A, Babb de Villiers C, Janus J, Brigden T, Blackburn L, Kroese M. Future Medicine. 15 March 2022.
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Babb de Villiers C, Kroese M, Moorthie S. Journal of Medical Genetics Online First. 6 May 2020.
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Congenital disorders: epidemiological methods for answering calls for action
Modell B, Darlison M.W, Malherbe H, Moorthie S, Blencowe H, Mahaini R, El-Adawy M.
Journal of Community Genetics. 2018, Vol 9 issue 4, pp 335-340.
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Moorthie S, Blencowe H, Darlison M.W, Lawn J.E, Mastroiacovo P, Morris J.K, Modell B, Congenital Disorders Expert Group.
Journal of Community Genetics. 2018; Volume 9, Issue 4, pp347-362.
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Blencowe H, Moorthie S, Darlison M.W, Gibbons S, Modell B, Congenital Disorders Expert Group.
Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 363-376.
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Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide
Moorthie S, Blencowe, H, Darlison M.W, Gibbons S, Lawn J.E, Mastroiacovo P, Morris J.K, Modell B, Congenital Disorders Expert Group.
Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 377-386.
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Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide
Moorthie S, Blencowe H, Darlison, M.W, Lawn J, Morris J.K, Modell, B, Congenital Disorders Expert Group.
Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 387-396.
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Rare single gene disorders: estimating baseline prevalence and outcomes worldwide
Blencowe H, Moorthie S, Petrou M, Hamamy H, Povey S, Bittles A, Gibbons S, Darlison M, Modell B, Congenital Disorders Expert Group
Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 397-406.
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Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis
Belncowe H, Kancherla V, Moorthie S, et al.
Annals of the New York Academy of Sciences. 2018 Jan 24; doi:10.1111/nyas.13548. [Epub ahead of print]
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Moorthie S, Blencowe H, W Darlison M, et al Congenital Disorders Expert Group.
J Community Genet. 2017 Oct 11; doi: 10.1007/s12687-017-0335-3. [Epub ahead of print]
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Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide.
Moorthie S, Blencowe H, Darlison MW, et al, Congenital Disorders Expert Group.
J Community Genet. 2017 Sep 26; doi: 10.1007/s12687-017-0336-2. [Epub ahead of print]
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Kadir A, Mossey PA, Blencowe H, Moorthie S et al.
Cleft Palate Caniofac J. 2016 Jul 19 [Epub ahead of print]
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Moorthie S, Cameron L, Sagoo G, Bonham J, Burton H.
Journal of Inherited Metabolic Disease. 2014 Nov; 37(6):889-898.
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Nacul L,Stewart A, Alberg C, Chowdhury S, Burton H, Darlison MW, Grollman C, Hall A, Modell B, Moorthie S, Sagoo G, .
Journal of Public Health. 2014 June; 36(2):243-50. doi: 10.1093/pubmed/fdt048 : May 10, 2013 [Epub ahead of print]
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Schuler-Faccini L, Sanseverino M, de Rocha Azevedo L, Moorthie S, Alberg C, Burton H, Chowdhury S, Sagoo G, Nacul L.
J Community Genet. 2013 Aug 30. [Epub ahead of print]
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Systematic review of birth prevalence of neural tube defects in India
Bhide P, Sagoo G, Moorthie S.
Birth Defects Res A Clin Mol Teratol. 2013 Jul; 97(7):437-43.
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Informatics and clinical genome sequencing: opening the black box
Moorthie S, Hall A, Wright C.
Genet Medicine. 2013 Mar; 15(3):165-71.
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The use of a toolkit for health needs assessment on neural tube defects in Argentina
Groisman B, Liascovich R, Barbero P, Alberg C, Moorthie S, Nacul L, Sagoo G.
J Community Genet. 2013 Jan; 4(1):77-86.
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Review of Massively Parallel DNA sequencing technologies
Mattocks C, Moorthie S, Wright C.
The HUGO Journal. 2011.
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Addressing congenital causes of disability
Nacul L, Moorthie S, Kapila M, Zimmern R.
The Lancet. 2010 Jan 30; 375(9712):374.