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

Policy briefings

Leading the way: driving the delivery of pathogen genomics into practice

Blogs

News

New papers on prevalence of birth defects

Journal papers

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
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
Rapid systematic review to identify key barriers to access, linkage, and use of local authority administrative data for population health research, practice, and policy in the United Kingdom.
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.
A community jury study exploring the public acceptability of using risk stratification to determine eligibility for cancer screening.
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.
Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention
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.
Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors
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.
How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?
Moorthie S, Hall A, Babb de Villiers C, Janus J, Brigden T, Blackburn L, Kroese M. Future Medicine. 15 March 2022.
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare
Babb de Villiers C, Kroese M, Moorthie S. Journal of Medical Genetics Online First. 6 May 2020.
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.
An overview of concepts and approaches used in estimating the burden of congenital disorders globally
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.
Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders
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.
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.
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.
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.
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]
An overview of concepts and approaches used in estimating the burden of congenital disorders globally
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]
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]
Systematic Review and Meta-analysis of the Birth Prevalence of Orofacial Clefts in Low and Middle Income Countries
Kadir A, Mossey PA, Blencowe H, Moorthie S et al.
Cleft Palate Caniofac J. 2016 Jul 19 [Epub ahead of print]
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases
Moorthie S, Cameron L, Sagoo G, Bonham J, Burton H.
Journal of Inherited Metabolic Disease. 2014 Nov; 37(6):889-898.
A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action
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]
Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil
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]
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.
Informatics and clinical genome sequencing: opening the black box
Moorthie S, Hall A, Wright C.
Genet Medicine. 2013 Mar; 15(3):165-71.
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.
Review of Massively Parallel DNA sequencing technologies
Mattocks C, Moorthie S, Wright C.
The HUGO Journal. 2011.
Addressing congenital causes of disability
Nacul L, Moorthie S, Kapila M, Zimmern R.
The Lancet. 2010 Jan 30; 375(9712):374.

Dr Sowmiya Moorthie

Genomics and policy news