Medicine

Anneke Lucassen

BMedSci, MBBS, DPhil(Oxon), FRCP

Primary position:
Professor of Clinical Genetics
Other positions:
Honorary Consultant in Clinical Genetics, Wessex Clinical Genetics Service, Co-ordinator: Ethics and Law teaching Southampton Faculty of Medicine

Background

The University of Southampton

Anneke did her higher medical training in Oxford before doing a PhD in the molecular genetics of multifactorial disease at the Institute of Molecular Medicine (Oxford). She specialised in Clinical Genetics, with a particular interest in cancer genetics, and more recently also cardiac genetics. She was appointed to Consultant/ Senior Lecturer in Oxford in 1997, moved to Southampton in 2000 and was promoted to Professor of Clinical Genetics in 2007.

Her early research into the genes that are involved in susceptibility to type 1 diabetes, led to an interest in the problems of assimilating an exponentially increasing amount of detailed molecular genetic information into clinical practice and, inevitably, in the ethicolegal aspects raised by the clinical practice of genetics. In 2001, with collaborators at Ethox (University of Oxford) and Wellcome Trust funding, she cofounded the UK Genethics Group which is a national forum for the exploration of ethico-legal issues arising in genetic practice.

She retains a foot in the molecular genetics laboratory through a variety of collaborations, and leads an interdisciplinary programme of research into the social, ethical and legal aspects of developments in genetics. She set up the multidisciplinary network CELS: Clinical ethics and law at Southampton which pulls together the diverse interests in these subjects across the faculty of medicine, and promotes research in this area as well as research led teaching.

These interests led to a leadership role in national policy development and implementation of best practice and she sat on the Human Genetics Commission until 2012 and has been on the Nuffield Council of Bioethics since 2009. She has recently been invited onto the ethics advisory group for Genomics England, the body which is overseeing the UK’s 100,000 genomes project.

Professor Anneke Lucassen's photo

Publications

The University of Southampton's electronic library (e-prints)

Article

Lucassen, Anneke and Houlston, Richard S. (2014) The challenges of genome analysis in the health care setting. Genes, 5, (3), 576-585. (doi:10.3390/genes5030576). (PMID:25055201).
Wellesley, D.G. and Lucassen, A. (2014) Prenatal diagnosis of chromosomal imbalances. Archives of Disease in Childhood - Fetal and Neonatal Edition (doi:10.1136/archdischild-2013-304835). (PMID:24792776).
Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David F., Wilson, David I., Mital, Seema and Hurles, Matthew E. UK10K Consortium (2014) Rare variants in NR2F2 cause congenital heart defects in humans. The American Journal of Human Genetics, 94, (4), 574-585. (doi:10.1016/j.ajhg.2014.03.007). (PMID:24702954).
Lucassen, Anneke, Widdershoven, Guy, Metselaar, Suzanne, Fenwick, Angela and Parker, Michael (2014) Genetic testing of children: the need for a family perspective. The American Journal of Bioethics, 14, (3), 26-28. (doi:10.1080/15265161.2013.879950). (PMID:24592836).
Crawford, Gillian, Fenwick, Angela and Lucassen, Anneke (2013) Letter. A more fitting term in the incidental findings debate: one term does not fit all situations. European Journal of Human Genetics (doi:10.1038/ejhg.2013.266). (PMID:24253863).
Crawford, Gillian, Foulds, Nicola, Fenwick, Angela, Hallowell, Nina and Lucassen, Anneke (2013) Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not. Genetics in Medicine, 15, (11), 896-899. (doi:10.1038/gim.2013.165). (PMID:24091799).
Ware, James S., John, Shibu, Roberts, Angharad M., Buchan, Rachel, Gong, Sungsam, Peters, Nicholas S., Robinson, David O., Lucassen, Anneke, Behr, Elijah R. and Cook, Stuart A. (2013) Next generation diagnostics in inherited arrhythmia syndromes. Journal of Cardiovascular Translational Research, 6, (1), 94-103. (doi:10.1007/s12265-012-9401-8). (PMID:22956155).
Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M., Domingo, Enric, Jones, Angela M., Broderick, Peter, Kemp, Zoe, Spain, Sarah L., Guarino, Estrella, Guarino Almeida, Estrella, Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G., Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B., Humphray, Sean, Lucassen, Anneke, Holmes, Christopher C., Bentley, David, Donnelly, Peter, Taylor, Jenny, Petridis, Christos, Roylance, Rebecca, Sawyer, Elinor J., Kerr, David J., Clark, Susan, Grimes, Jonathan, Kearsey, Stephen E., Thomas, Huw J.W., McVean, Gilean, Houlston, Richard S. and Tomlinson, Ian The CORGI Consortium and The WGS500 Consortium (2013) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinoma. Nature Genetics, 45, (2), 136-144. (doi:10.1038/ng.2503). (PMID:23263490).
Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M., Domingo, Enric, Jones, Angela M., Broderick, Peter, Kemp, Zoe, Spain, Sarah L., Guarino, Estrella , Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G., Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B., Humphray, Sean, Lucassen, Anneke, Holmes, Christopher C., Bentley, David, Donnelly, Peter, Taylor, Jenny, Petridis, Christos, Roylance, Rebecca, Sawyer, Elinor J., Kerr, David J., Clark, Susan, Grimes, Jonathan, Kearsey, Stephen E., Thomas, Huw J.W., McVean, Gilean, Houlston, Richard S. and Tomlinson, Ian (2012) Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nature Genetics, 45, (2), 136-144. (doi:10.1038/ng.2503). (PMID:23263490).
Burton, H., Cole, T. and Lucassen, A.M. (2012) Genomic medicine: challenges and opportunities for physicians. Clinical Medicine , 12, (5), 416-419. (doi:10.7861/clinmedicine.12-5-416 ). (PMID:23101139).
Lucassen, A., Burton, H. and Cole, T. (2012) Genomic medicine: challenges and opportunities for physicians. Clinical Medicine & Research, 12, (5), 416-419. (doi:10.7861/clinmedicine.12-5-416). (PMID:23101139).
Lucassen, Anneke and Fenwick, Angela (2012) Testing children for adult onset conditions: the importance of contextual clinical judgement. Journal of Medical Ethics, 38, (9), 531-532. (doi:10.1136/medethics-2012-100678). (PMID:22763003).
Westwood, Greta Patricia, Pickering, Ruth, Latter, S., Little, Paul, Gerard, Karen, Lucassen, Anneke and Temple, Karen (2012) A cluster-randomised factorial trial of a primary care specialist genetics service. British Journal of General Practice
Westwood, Greta, Pickering, Ruth, Latter, Sue, Little, Paul, Gerard, Karen, Lucassen, Anneke and Temple, I Karen (2012) A primary care specialist genetics service: a cluster-randomised factorial trial. British Journal of General Practice, 62, (596), 191-197. (doi:10.3399/bjgp12X630089). (PMID:22429436).
LUCASSEN, ANNEKE (2012) Ethical implications of new genetic technologies. Developmental Medicine & Child Neurology, 54, (3), 196. (doi:10.1111/j.1469-8749.2011.04182.x). (PMID:22211426).
Lucassen, A. and Hall, A. (2012) Consent and confidentiality in genetic practice: guidance on genetic testing and sharing genetic information. Clinical Medicine & Research, 12, (1), 5-6. (doi:10.7861/clinmedicine.12-1-5). (PMID:22372209).
McBride, D. and Lucassen, A. (2011) Mainstreaming genetics: the potential for miscommunication. Clinical Ethics, 6, (4), 159-161. (doi:10.1258/ce.2011.011039).
Wheeler, Robert, Spargo, P. and Lucassen, A. (2011) The shifting sands of patient autonomy and public interest considerations in health care. Clinical Ethics, 6, (4), 203-206. (doi:10.1258/ce.2011.011038).
Wheeler, Robert, Spargo, Paul and Lucassen, Anneke (2011) The shifting sands of patient autonomy and public interest considerations in health care. Clinical Ethics, 6, (4), 203-206. (doi:10.1258/ce.2011.011038).
Edwards, E. and Lucassen, A. (2011) The impact of cancer pathology confirmation on clinical management of a family history of cancer. Familial Cancer, 10, (2), 373-380. (doi:10.1007/s10689-010-9407-9). (PMID:21136175).
Lucassen, Anneke and Lucassen, Emy (2011) Letting family members know about genetic conditions; how and when? Bionews, 590
Lucassen, Anneke, Hill, Catherine and Wheeler, Robert (2010) 'Ethnicity testing' before adoption; a help or hindrance? Archives of Disease in Childhood, 95, (6), 404-405. (doi:10.1136/adc.2009.168989 ).
Chivers Seymour, Kim, Addington-Hall, Julia, Lucassen, Anneke M. and Foster, Claire L. (2010) What facilitates or impedes family communication following genetic testing for cancer risk? a systematic review and meta-synthesis of primary qualitative research. Journal of Genetic Counseling, 19, (4), 330-342. (doi:10.1007/s10897-010-9296-y). (PMID:20379768).
Lucassen, Anneke and Parker, Michael (2010) Confidentiality and sharing genetic information with relatives. The Lancet, 275, (9725), 1507-1509. (doi:10.1016/S0140-6736(10)60173-0). (PMID:20435216).
Lucassen, Anneke and Wheeler, Robert (2010) Legal implications of tissue. Annals of The Royal College of Surgeons of England, 92, (3), 189-192. (doi:10.1308/003588410X12628812458897). (PMID:20412669).
Lucassen, Anneke and Clancy, Tara (2010) Introduction: genetic testing in children. Familial Cancer, 9, (1), 1-1. (doi:10.1007/s10689-010-9322-0).
Crawford, Gillian and Lucassen, Anneke (2010) Predictive genetic testing in a young child: a case report. Familial Cancer, 9, (1), 61-64. (doi:10.1007/s10689-009-9277-1). (PMID:19672699).
Hill, C.M., Wheeler, R., Merredew, F. and Lucassen, A. (2010) Family history and adoption in the UK: conflicts of interest in medical disclosure. Archives of Disease in Childhood, 95, (1), 7-11. (doi:10.1136/adc.2009.164970).
Hallowell, N., Cooke, S., Crawford, G., Lucassen, A., Parker, M. and Snowdon, C. (2010) An investigation of patients' motivations for their participation in genetics-related research. Journal of Medical Ethics, 36, (1), 37-45. (doi:10.1136/jme.2009.029264).
Hallowell, N., Cooke, S., Lucassen, A., Parker, M. and Snowdon, C. (2010) An investigation of patients' motivations for their participation in genetics-related research. Journal of Medical Ethics, 36, (1), 37-45. (doi:10.1136/jme.2009.029264 ).
Houlston, R.S., Cheadle, J., Dobbins, S.E., Tenesa , A., Jones, A.M., Howarth, K., Spain, S.L., Broderick, P., Domingo, E., Farrington, S., Prendergast, J.G., Pittman, A.M., Theodoratou, E., Smith, C.G., Olver , B., Walther, A., Barnetson, R.A., Churchman, M., Jaeger, E.E., Pendegar, S., Barclay, E., Martin, L., Gorman, M., Mager, R., Johnstone, E., Midgley, R., Niittymaki, I., Tuupanen, S., Colley, J., Idziaszczyk, S., Thomas , H.J., Lucassen, Anneke, Evans, D.G., Maher, R.E., Maughan, T., Dimas, A., Dermitzakis, E., Cazier, J.B., Aaltonen, L.A., Pharoah, P., Kerr, D.J., Carvajal-Carmona, L.G., Campbell, H., Dunlop, M.G., Tomlinson, I.P., COGENT Consortium, CORGI Consortium, COIN Collaboration and COINB Collaborative Group (2010) Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nature Genetics, 42, (11), 973-977. (doi:10.1038/ng.670).
Cairns, S.R., Scholefield , J.H., Steele, R.J., Dunlop, M.G., Thomas, H.J., Evans , G.D., Eaden, J.A., Rutter , M.D., Atkin, WP, Saunders, BP, Lucassen, Anneke, Jenkins, P, Fairclough, PD, Woodhouse, CR, British Society of Gastroenterology and Association of Coloproctology for Great Britan and Ireland (2010) Guidelines for colorectal cancer screening and surveillance in moderate and high risk group. Gut, 59, (5), 666-689. (doi:10.1136/gut.2009.179804 ).
Lucassen, Anneke and Montgomery, Jonathan (2009) Predictive genetic testing in children: where are we now? An overview and a UK perspective. Familial Cancer , 9, (1), 3-7. (doi:10.1007/s10689-009-9299-8).
Lucassen, Anneke (2009) Ethicolegal aspects of genetics in surgical practice. Annals of The Royal College of Surgeons of England, 91, (6), 451-455.
Baralle, Diana, Lucassen, Anneke and Buratti, Emanuele (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. Embo Reports, 10, (8), 810-816. (doi:10.1038/embor.2009.170).
Hallowell, Nina, Cooke, Sarah, Crawford, Gill, Lucassen, Anneke and Parker, Michael (2009) Distinguishing research from clinical care in cancer genetics: theoretical justifications and practical strategies. Social Science & Medicine, 68, (11), 2010-2017. (doi:10.1016/j.socscimed.2009.03.010 ). (PMID:19346047).
Rafi, Imran, Qureshi, Nadeem, Lucassen, Anneke, Modell, Michael, Elmslie, Frances, Kai, Joe, Kirk, Maggie, Starey , Nigel, Goff, Sheila, Brennan, Paul and Hodgson, Shirley (2009) 'Over-the-counter' genetic testing: what does it really mean for primary care? British Journal of General Practice, 59, (561), 283-287. (doi:10.3399/bjgp09X395021).
Evans, D.G.R., Baildam, A.D., Anderson, E., Brain, A., Shenton, A., Vasen, H.F.A., Eccles, D., Lucassen, A., Pichert, G., Hamed, H., Moller, P., Maehle, L., Morrison, P.J., Stoppart-Lyonnet, D., Gregory, H., Smyth, E., Niederacher, D., Nestle-Krämling, C., Campbell, J., Hopwood, P., Lalloo, F. and Howell, A. (2009) Risk reducing mastectomy: outcomes in 10 European centres. Journal of Medical Genetics, 46, (4), 254-258. (doi:10.1136/jmg.2008.062232).
Cox, Helen, Lucassen, Anneke, Rio, Marlene, Browne, Caroline, Renforth, Glenn, Craven, Lyndsey, Salmon, Tony and Wilson, David I. (2009) Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. Clinical Dysmorphology, 18, (2), 98-102. (doi:10.1097/MCD.0b013e3283202a1f).
Hallowell, N., Cooke, S., Crawford, G., Parker, M. and Lucassen, A. (2009) Healthcare professionals' and researchers' understanding of cancer genetics activities: a qualitative interview study. Journal of Medical Ethics, 35, (2), 113-119. (doi:10.1136/jme.2008.024224).
Cooke, Sarah, Crawford, Gillian, Parker, Michael, Lucassen, Anneke and Hallowell, Nina (2008) Recall of participation in research projects in cancer genetics: some implications for research ethics. Clinical Ethics, 3, (4), 180-184. (doi:10.1258/ce.2008.008019).
Lucassen, Anneke (2008) Ethical issues in genetic medicine. InnovAit, 1, (8), 589-595. (doi:10.1093/innovait/inn094).
Hallowell, Nina, Cooke, Sarah, Crawford, Gillian, Parker, Michael and Lucassen, Anneke (2008) Ethics and research governance: the views of researchers, health-care professionals and other stakeholders. Clinical Ethics, 3, (2), 85-90. (doi:10.1258/ce.2008.008014).
Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, Robinson, James P., Yang, Zhaohui, Chen, Li-Qiong, Orntoft, Torben, Mecklin, Jukka-Pekka, Järvinen, Heikki, Eng, Charis, Moeslein, Gabriela, Shibata, Darryl, Houlston, Richard S., Lucassen, Anneke, Tomlinson, Ian P.M., Launonen, Virpi, Ristimäk, Ari, Arango, Diego, Karhu, Auli, Sweeney, H. Lee and Aaltonen, Lauri A. (2008) Unregulated smooth-muscle myosin in human intestinal neoplasia. Proceedings of the National Academy of Sciences of the United States of America, 105, (14), 5513-5518. (doi:10.1073/pnas.0801213105).
Crawford, G.C. and Lucassen, A.M. (2008) Disclosure of genetic information within families: a case report. Clinical Ethics, 3, (1), 7-10. (doi:10.1258/ce.2007.007051).
Tomlinson, I.P.M., Webb, E., Carvajal-Carmona, L., Broderick, P., Howarth, K., Pittman, A.M., Spain, S., Lubbe, S., Walther, A., Sullivan, K., Jaeger, E., Fielding, S., Rowan, A., Vijayakrishnan, J., Domingo, E., Chandler, I., Kemp, Z., Qureshi, M., Farrington, S.M., Tenesa, A., Prendergast, J.G.D., Barnetson, R.A., Penegar, S., Barclay, E., Wood, W., Martin, L., Gorman, M., Thomas, H., Peto, J., Bishop, D.T., Gray, R., Maher, E.R., Lucassen, A., Kerr, D., Evans, D.G.R., Schafmayer, C., Buch, S., Volzke, H., Hampe, J., Schreiber, S., John, U., Koessler, T., Pharoah, P., Van Wezel, T., Morreau, H., Wijnen, J.T., Hopper, J.L., Southey, M.C., Giles, G.G., Severi, G., Castellvi-Bel, S., Ruiz-Ponte, C., Carracedo, A., Castells, A., Forsti, A., Hemminki, K., Vodicka, P., Naccarati, A., Lipton, L., Ho, J.W.C., Cheng, K.K., Sham, P.C., Luk, J., Agundez, J.A.G., Ladero, J.M., De la Hoya, M., Caldes, T., Niittymaeki, I., Tuupanen, S., Karhu, A., Aaltonen, L., Cazier, J.B., Campbell, H., Dunlop, M.G. and Houlston, R.S. (2008) A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23. Nature Genetics, 40, (5), 623-630. (doi:10.1038/ng.111).
Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, van der Luijt, Rob B., Aalfs, Cora M., Sane, Timo, Vierimaa, Outi, Makinen, Markus J., Tuppurainen, Karoliina, Paschke, Ralph, Gimm, Oliver, Koch, Christian A., Gundogdu, Sadi, Lucassen, Anneke, Tischkowitz, Marc, Izatt, Louise, Aylwin, Simon, Bano, Gul, Hodgson, Shirley, De Menis, Ernesto, Launonen, Virpi, Vahteristo, Pia and Aaltonen, Lauri A. (2007) Germline CDKN1B/p27(Kip1) mutation in multiple endocrine neoplasia. Journal of Clinical Endocrinology and Metabolism, 92, (8), 3321-3325. (doi:10.1210/jc.2006-2843).
Moller, Pal, Evans, D. Gareth, Reis, Marta M., Gregory, Helen, Anderson, Elaine, Maehle, Lovise, Lalloo, Fiona, Howell, Anthony, Apold, Jaran, Clark, Neal, Lucassen, Anneke and Steel, C. Michael (2007) Surveillance for familial breast cancer: differences in outcome according to BRCA mutation status. International Journal of Cancer, 121, (5), 1017-1020. (doi:10.1002/ijc.22789).
Cooke, S, Lucassen, A, Crawford, G, Parker, M and Hallowell, N (2007) Lay understanding of cancer genetics activities in the UK. Psycho-Oncology, 16, (3), 265-265. (doi:10.1002/pon.1165).
Lucassen, A. and Clarke, A. (2007) Should families own genetic information? British Medical Journal, 335, (7609), 22-23. (doi:10.1136/bmj.39252.386030.AD).
Lucassen, A. and Kaye, J. (2006) Genetic testing without consent: the implications of the new Human Tissue Act 2004. Journal of Medical Ethics, 32, (12), 690-692. (doi:10.1136/jme.2005.013631).
Oh, K., Khan, S.G., Imoto, K., Jaspers, N., Raams, A., Ueda, T., Lehmann, A., Friedmann, P., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A. and Kraemer, K.H. (2006) Sequential assembly of nucleotide excision repair factors at sites of DNA damage in XP-B cells. Journal of Investigative Dermatology, 126, (Supplement 4s), p.78.
Hearle, N.C.M., Rudd, M.F., Lim, W., Murday, V., Lim, A.G., Phillips, R.K., Lee, P.W., O'Donohue, J., Morrison, P.J., Norman, A., Hodgson, S.V., Lucassen, A. and Houlston, R.S. (2006) Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. Journal of Medical Genetics, 43, (4), e15-[4pp]. (doi:10.1136/jmg.2005.036830).
Westwood, G., Pickering, R.M., Latter, S., Lucassen, A., Little, P. and Temple, I.K. (2006) Feasibility and acceptability of providing nurse counsellor genetics clinics in primary care. Journal of Advanced Nursing, 53, (5), 591-604. (doi:10.1111/j.1365-2648.2006.03760.x).
Lucassen, Anneke, Parker, Michael and Wheeler, Robert (2006) Ethics - Implications of data protection legislation for family history. British Medical Journal, 332, (7536), 299-301. (doi:10.1136/bmj.332.7536.299).
Kemp, Z., Carvajal-Carmona, L., Spain, S., Barclay, E., Gorman, M., Martin, L., Jaeger, E., Brooks, N., Bishop, D.T., Thomas, H., Tomlinson, I., Papaemmanuil, E., Webb, E., Sellick, G.S., Wood, W., Evans, G., Lucassen, A., Maher, E.R. and Houlston, R.S. (2006) Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan. Human Molecular Genetics, 15, (19), 2903-2910.
Rimes, K.A., Salkovskis, P.A., Jones, L. and Lucassen, A.A. (2006) Applying a cognitive-behavioral model of health anxiety in a cancer genetics service. Health Psychology, 25, (2), 171-180.
Lucassen, Anneke, Parker, Michael and Wheeler, Robert (2006) Implications of data protection legislation for family history. British Medical Journal, 322, (7536), 299-301. (doi:10.1136/bmj.332.7536.299).
Oh, Kyu-Seon, Khan, Sikandar G., Jaspers, N.G.J., Raams, Anja, Ueda, Takahiro, Lehmann, Alan, Friedmann, Peter S., Emmert, Steffen, Gratchev, Alexi, Lachlan, Katherine, Lucassen, Anneke, Baker, Carl C. and Kraemer, Kenneth H. (2006) Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Human Mutation, 27, (11), 1092-1103. (doi:10.1002/humu.20392).
Beysen, D., Raes, J., Leroy, B. P., Lucassen, A., Yates, J. R., Clayton-Smith, J., Ilyina, H., Brooks, S. S., Christin-Maitre, S., Fellous, M., Fryns, J. P., Kim, J. R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L. M., Oley, C., Splitt, M., Thomson, J., Peer, Y. V., Veitia, R. A., De Paepe, A. and De Baere, E. (2005) Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. American Journal of Human Genetics, 77, (2), 205-218. (doi:10.1086/432083).
Westwood, G., Little, P., Pickering, R.M., Temple, I.K., Latter, S.M. and Lucassen, A.M. (2005) Referrals to clinical genetics services: GPs' attitudes and practice. Journal of Medical Genetics, 42, pp.S27.
Sharp, Andrew, Pichert, Gabriella, Lucassen, Anneke and Eccles, Diana (2004) RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. Human Mutation, 24, (3), 272-272. (doi:10.1002/humu.9267).
Hearle, Nicholas, Lucassen, Anneke, Wang, Rubin, Lim, Wendy, Ross, Fiona, Wheeler, Robert, Moore, Isabella, Shipley, Janet and Houlston, Richard (2004) Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STKII-negative PJS cases. Genes Chromosomes & Cancer, 41, (2), 163-169. (doi:10.1002/gcc.20067).
Lucassen, Anneke M., Parker, Michael and Wheeler, Robert (2004) Role of next of kin in accessing health records of deceased relatives. British Medical Journal, 328, (7445), 952-953. (doi:10.1136/bmj.328.7445.952).
Lucassen, Anneke and Parker, Michael (2004) Confidentiality and serious harm in genetics - preserving the confidentiality of one patient and preventing harm to relatives. European Journal of Human Genetics, 12, (2), 93-97. (doi:10.1038/sj.ejhg.5201118).
Parker, Michael and Lucassen, Anneke M. (2004) Genetic information: a joint account? British Medical Journal, 329, (7458), 165-167. (doi:10.1136/bmj.329.7458.165).
Westwood, G., Temple, I.K., Lucassen, A.M., Pickering, R.M., Latter, S.M. and Little, P. (2004) A clustered randomised controlled trial of the location of genetic counsellor clinical genetics appointments. Journal of Medical Genetics, 41, pp.S45.
Fraser, L., Bramald, S., Chapman, C., Cornelius, V., Douglas, F., Lucassen, A., Nehammer, A., Sutton, S. and Trivella, M. (2003) What motivates interest in attending a familial cancer genetics clinic? Familial Cancer, 2, (3-4), 159-168. (doi:10.1023/B:FAME.0000004621.38109.16 ).
Lucassen, Anneke and Parker, Michael (2001) Revealing false paternity: some ethical considerations. Lancet, 357, (9261), 1033-1035. (doi:10.1016/S0140-6736(00)04240-9).
Emery, Jon, Lucassen, Anneke and Murphy, Michael (2001) Common hereditary cancers and implications for primary care. Lancet, 358, (9275), 56-63. (doi:10.1016/S0140-6736(00)05257-0).
Lucassen, Anneke M. and Houlston, Richard S. (2000) Clinical geneticists' attitudes and practice towards testing for breast cancer susceptibility genes. Journal of Medical Genetics, 37, (2), 157-160. (doi:10.1136/jmg.37.2.157). (PMID:10712111).
Lucassen, Anneke (1998) Ethical issues in genetics of mental disorders. Lancet, 352, (9133), 1004-1005. (doi:10.1016/S0140-6736(05)60071-2).
Lucassen, A. and Houlston, R.S (1998) Familial colorectal cancer and genetic testic. Practitioner, 242, (1585), 306-314.
Lucassen, Anneke (1997) Genetic screening for breast cancer? Journal British Menopause Society, 3, (20), 24757-24762.
Lucassen, A. and Houlston, R.S. (1997) Familial breast cancer: who is at risk. The Practitioner, 241, 1581-1581.
Bennett, S. T., Lucassen, A. M., Gough, S. C .L., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman , M.E., Kawaguchi, Y., Dronsfield, M., Pociot, F, Nerup, J., Bouzekri, N., Cambon-Thomsen, A., Ronningen, K .S., Barnett, A. H., Bain, S. C. and Todd, J. A. (1995) Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genetics, 9, (3), 284-292. (doi:10.1038/ng0395-284). (PMID:7773291).
Ganczakowski, M., Bowden, D. K., Maitland, K., Williams, T. N., O'Shaughnessy, D., Viji, J., Lucassen, Anneke, Clegg, J. B. and Weatherall, D. J. (1995) Thalassaemia in Vanuatu, South-West Pacific: frequency and haematological phenotypes in young children. British Journal of Haematology, 89, (3), 485-495. (doi:10.1111/(ISSN)1365-2141). (PMID:7734345).
Julier, C., Lucassen, A., Villedieu, P., Delepine, M., Levy-Marchal, C., Danzé, P.M., Bianchi, F., Boitard, C., Froguel, P., Bell, J. and Lathrop, G. M. (1994) Multiple DNA variant association analysis: application to the insulin gene region in type 1 diabetes. The American Journal of Human Genetics, 55, (6), 1247-1254. (PMID:7977386).
Lucassen, Anneke M., Julier, Cecile, Beressi, Jean-Paul, Boitard, Christian, Froguel, Philippe, Lathrop, Mark and Bell, John I. (1993) Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 Kb segment of DNA spanning the insulin gene and associated VNTR. Nature Genetics, 4, 305-310. (doi:10.1038/ng0793-305). (PMID:8358440).
Stoffel, M., Patel, P., Lo, Y.M., Hattersley, A.T., Lucassen, A., Page, R., Bell, J.I., Bell, G.I., Turner, R.C. and Wainscote, J.S. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genetics, 2, (2), 153-156. (doi:10.1038/ng1092-153). (PMID:1303265).
Lucassen, A., Julier, C., Hyer, R.N., Lathrop, M. and Bell, J.I. (1992) Susceptibility to type 1 diabetes mellitus and the insulin locus. American Journal of Human Genetics, 51, (4), 193-194.

Book

Ashcroft, Richard, Lucassen, Anneke, Parker, Michael and Widdershoven, Guy (eds.) (2005) Case analysis in clinical ethics, Cambridge, GB, Cambridge University Press, 262pp.
Rose, Peter and Lucassen, Anneke (1999) Practical genetics for primary care, Oxford, GB, Oxford University Press, 381pp.

Book Section

Lucassen, Anneke (2009) Ethical issues in cancer genetics. In, Clark, Sue (ed.) A guide to Cancer Genetics in Clinical Practice. Telford, United Kingdom, TFM.
Lucassen, Anneke (2005) Response to ethical dissections of the case. In, Ashcroft, Richard, Lucassen, Anneke, Parker, Michael, Verkerk, Marian and Widdershoven, Guy (eds.) Case Analysis in Clinical Ethics. Cambridge, GB, Cambridge University Press, 213-224.
Turner, Claire L.S., Temple, Karen and Lucassen, Anneke (2005) Genetics. In, Peebles, Allison, Connett, Gary J., Maddison, Judi and Gavin, Joan (eds.) Cystic Fibrosis Care: a Practical Guide. London, GB, Churchill Livingstone, 25-36.
Lucassen, Anneke and Watson, Eila (2003) Familial cancers and women’s health. In, Waller, Deborah and McPherson, Ann (eds.) Women's Health. Oxford, GB, Oxford University Press, 489-518.
Austoker, J, Clarke, J and Lucassen, Anneke (1997) Breast cancer and benign breast disease. In, McPherson, Ann and Waller , Deborah (eds.) Women’s health. Oxford, GB, Oxford University Press. (Oxford General Practice).
Bennett, S.T and Lucassen, Anneke (1996) Identification of insulin gene minisatellites alleles. In, Burke, J.F. (ed.) PCR: Essential techniques. Oxford, GB, John Wiley and Sons, 32-33.
Lucassen, Anneke and Bell, John (1995) Genetics of insulin dependent diabetes. In, Leslie, R.D.G. and Robbins, David C. (eds.) Diabetes: Clinical Science in Practice. Cambridge, GB, Cambridge University Press, 117-133.
 

Research

Research Interests

More information on:  http://www.soton.ac.uk/cels/research_projects

Our research explores how the rapid developments in genetic and genomic technologies are integrated into clinical practice and society. By bringing together different areas of research, teaching and practice from different disciplines, we have created a novel niche that is effective in contextualising genetics to a broad audience. Our aim is to define an ethical and legal framework that serves current genetics practice and accommodates future developments in genetic research. Some of our current funded research (Wellcome Trust, NIHR, and BUPA Foundation) illustrates this:

Predictive genetic testing of children

A host of national and international guidelines recommend that genetic testing is deferred in childhood unless there are immediate medical benefits but there is very little empirical evidence behind this recommendation. Using both a survey of current practice across the UK and in-depth interviews of parents, young people and practitioners, the study aims to provide an evidence basis to guidance and help improve communication about these issues.

Consent and confidentiality in genetic medicine

Despite the recognition by the GMC and the Joint Committee of Medical Genetics that the familial nature of genetic data can cause difficulties in practice, there is little in-depth knowledge about what different parties think about the issues raised. Is a genetic test result an individual result that can only be disclosed to others with specific consent? Or does a test result really something that ‘belongs’ to all the family members who might also have inherited it? The research explores the views of patients, patient support groups, healthcare professionals and academics, in order to shed light on how clinical practice might take these into account.

Clinically Relevant Incidental findings from new genetic technologies

Rapid advances in the speed and cost of methods to explore a human genome means that a genetic test performed for clinical reasons may indicate genetic diagnoses or predispositions entirely unanticipated, or related to the reasons for the test. This research explores the consent and disclosure issues associated with these changes using both qualitative and quantitative ethodology. Furthermore the additional tensions that such testing might raise in the prenatal setting are also being studied.

National Policy formulation

An important spinout from the work in this area is the formulation of national policy and best practice guidelines. Examples of recent national guidelines hawse have co-authored include: BSHG: genetic testing of children (www.BSHG.org.uk) and for the Joint Committee on Medical Genetics: consent and confidentiality in genetic practice (Royal College of Physicians In Press). Membership of two different NICE panels (familial hypercholesterolaemia and familial breast cancer) further illustrate this.

We are keen to engage with members of the public about our research. We hold regular local events (please see http://www.southampton.ac.uk/cels/ for details) and welcome email contact from interested parties.

Academic unit:  Cancer Sciences

Responsibilities

Postgraduate student supervision

Current

Gill Crawford: Clinically relevant Incidental findings from new genetic technologies
Caroline Huang: International comparisons in BRCA management (Rhodes Scholar, with Professor Michael Parker, Uo Oxford)
Catherine Mercer: Genetics of hypoplastic left heart syndrome

National and International responsibilities

Co-founder and organiser of the UK Genethics Group (www.genethicsclub.org)
Member of the Nuffield Council of Bioethics from 2009-2015
The ‘Bijtel’ honorary Professorship, Groningen university, The Netherlands 2013-2015
Wellcome Trust ‘Expert review group’ panel member from (since 2010)
Wellcome Trust Consortium Data Access Committee member (since 2011)
Scientific advisory board member - Deciphering developmental delay study (DDD) Cambridge
Chair Southampton University Hospitals Trust Clinical Ethics Committee (since 2007)
Editorial Board: Clinical Ethics Journal (since 2005)

Previously:

Member of the Human Genetics Commission till 2012
Chair of UK Cancer Genetics Group till 2012
Council member: British Society of Human Genetics (BSHG)
Council member: Joint Committee of Medical Genetics (JCMG)
Council member: Association of Inherited Cardiac disorders
Co-opted NICE panel Familial Hypercholesterolaemia 2008; Guideline Development Group NICE Familial Breast Cancer 2011-2012

Contacts:

Professor Anneke Lucassen
PA: Lisa Scott; L.M.Scott@soton.ac.uk; Tel: 023 8120 4489
Address: c/o Wessex Clinical Genetic Service, MP105 PAH SO165YA
or Clinical ethics and law (CELS) office room 203 Level B South Academic Corridor SGH

Teaching Responsibilities

Clinical coordinator for ethics and law teaching to undergraduate students at Southampton medical school

Together with Dr Angela Fenwick (senior lecturer in medical education and ethics) she has developed the curriculum to ensure the law and ethics “theme” is integrated appropriately throughout BM programmes; providing teaching; coordinating teachers who teach for the theme and the assessment of students’ learning.

BMedSci: Supervision of up to 3 students per year in Clinical Ethics and Law

Contact

Professor Anneke Lucassen
PA: Lisa Scott; L.M.Scott@soton.ac.uk; Tel: 023 8120 4489

Address: c/o Wessex Clinical Genetic Service, MP105 PAH SO165YA
or Clinical ethics and law (CELS) office room 203 Level B South Academic Corridor SGH

Room Number: PAH/Level G

Telephone: (023) 8120 6841
Facsimile: (023) 8120 4346
Email: A.M.Lucassen@soton.ac.uk