Lecture Title: The 100,000 Genomes Project: impact of genomic medicine in the clinic
Ellen Thomas is Clinical Lead for NHS Genomic Medicine at Genomics England, as well as a Locum Consultant in Genomic Medicine at Imperial College NHS Trust. Her training included a PhD thesis at Imperial College, studying genetic factors contributing to monogenic and complex diseases using high-throughput sequencing, and she has experience of the use of high-throughput sequencing in the clinical diagnostic context in the Clinical Genetics department at Guy’s and St Thomas’ Hospital, London. Her current role on the Genomics England Science Team led by Professor Mark Caulfield involves working with England’s Genomic Medicine Centres on delivery of the 100,000 Genomes Project, now focused primarily on analysis and reporting of results for patients with rare diseases. At Imperial College NHS Trust, she has supported delivery of the rare disease arm of the 100,000 Genomes Project at West London Genomic Medicine Centre, and is now preparing to implement the new NHS England Genomic Medicine Service.
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, Henderson S, Patch C, O’Neill A, Devereaux A, Smith K, Martin AR, Sosinsky A, McDonagh EM, Sultana R, Mueller M, Smedley D, Toms A, Dinh L, Fowler T, Bale M, Hubbard T, Rendon A, Hill S, Caulfield MJ; 100 000 Genomes Project. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ. 2018 Apr 24;361:k1687. doi: 10.1136/bmj.k1687
Brittain HK, Scott R, Thomas E. The rise of the genome and personalised medicine. Clin Med (Lond). 2017; Dec;17(6):545-551
Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL,18, Ellard S. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenatal Diagnosis. 2017; Nov 2. doi: 10.1002/pd.5175. [Epub ahead of print]
Mark Caulfield, Ellen Thomas, Clare Turnbull, Richard Scott, Augusto Rendon, Louise Jones, Kay Lawson, Nirupa Murugaesu, Clare Craig, Matina Prapa et al. 2017. Chapter 2 100,000 Genome Project. Generation Genome, the Chief Medical Officer’s report 2016
Thomas E and Mohammed S. Advances in Genetic Testing for Hereditary Cancer Syndromes. Recent Results Cancer Res. 2016 205:1-15
Ellen R A Thomas, Anna Brackenridge, Julia Kidd, Dulmini Kariyawasam, Paul Carroll, Kevin Colclough, Sian Ellard. Diagnosis of monogenic diabetes: 10-year experience in a large multi-ethnic diabetes centre. Journal of Diabetes Investigation, Published online: 26 Oct 2015 (DOI: 10.1111/jdi.12432)
Ellen R A Thomas. The past, present and future of molecular genetic diagnosis in familial hypercholesterolemia. Clinical Lipidology 2015; 10(5) pp 379-385
Norsworthy PJ, Vandrovcova J, Thomas ER, Campbell A, Kerr SM, Biggs J, Game L, Soutar AK, Smith BH, Dominiczak AF, Porteous DJ, Morris AD, Scotland G, Aitman TJ. Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. BMC Med Genet. 2014 Jun 23;15:70
Roberts AL, Thomas ER, Bhosle S, Game L, Obraztsova O, Aitman TJ, Vyse TJ, Rhodes B. Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases. Arthritis Res Ther. 2014 May 21;16(3)
Paul Grant, Anand Velusamy, Ellen R A Thomas, Ali J Chakera. When to suspect ‘funny’ diabetes. Clinical Medicine 2014; 14(6) pp 663-6
Ellen R A Thomas, Santosh S Atanur, Penny J Norsworthy, Vesela Encheva, Ambrosius P Snijders, Laurence Game, Jana Vandrovcova, Afshan Siddiq, Mary Seed, Anne K Soutar, Timothy J Aitman. Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolaemia. Molecular Genetics and Genomic Medicine 2013; 1(3) pp 155–161
Clinical Saturday 2019 is run in association with the European Academy for Dermatology and Venereology (EADV). This year’s focus is on next-generation healthcare.