2008 Barcelona - European Society of Human Genetics

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EMPAG Posters to optimize counseling service . We necessitate to analyze psychosocial features to fit counseling process to client personality and needs. To reach this goal, since 2004 we have evaluated needs for information, motivations and psychosocial characteristics of individuals asking for OGC because of their familial history of common cancers (breast, colon, thyroid, etc.). 110 counselees fulfilled a questionnaire before receiving OGC assessing: sociodemographic features, health locus of control, monitoring/blunting, general self efficacy, motivations, emotional state and perceived risk . 76 were affected by cancer and 34 were unaffected . Cancer risk was assessed either with genetic testing or with validated probabilistic models . Our results have showed that counselees have: no clinical psychological distress, high level of self efficacy but not a specific style of information seeking. They feel at high risk for cancer running in the family and they strongly want information about surveillance and prevention actions . Perceived risk is related to some psychological variables (coping and mood) and in unaffected people it is not related to cancer risk estimated . We can conclude that, individual seeking OGC have adaptive psychological resources that let them cope with familial cancer risk, and that evaluating psychological profile has several implications into clinical practice, because psychological variables significantly influence risk perception. EP14.17 triangulation of methods: a novel approach to investigating valued outcomes from using clinical genetics services M. McAllister 1 , K. Payne 2 , R. MacLeod 3 , D. Donnai 1 , L. Davies 2 ; 1 Nowgen (A Centre for Genetics in Healthcare) & Medical Genetics Research Group, The University of Manchester, St Mary’s Hospital, Manchester, United Kingdom, 2 Nowgen (A Centre for Genetics in Healthcare) & Health Economics Research at Manchester, School of Community-based Medicine, The University of Manchester, Manchester, United Kingdom, 3 Medical Genetics Research Group, The University of Manchester, St Mary’s Hospital, Manchester, United Kingdom. The patient benefits from using clinical genetics services are hard to measure, and there is little consensus about appropriate outcome measures . This paper describes a programme of research that aimed to work towards a core set of outcome measures suitable for evaluating clinical genetics services . The approach involved 4 types of triangulation (method, investigator, discipline and data) . Three methods were used: (1) A systematic review of the literature identified the validated outcome measures (30 genetics-specific and 37 generic) used, or developed, to evaluate clinical genetics services . (2) A Delphi survey, aimed at identifying the degree of consensus about the relevance of existing outcome measures, was completed by a panel of 115 genetics clinicians and 72 patients of clinical genetics services . At least 75% of the panel agreed that the following outcome domains were useful: knowledge of the genetic condition, decisionmaking, perceived personal control, risk perception, satisfaction, meeting of expectations, coping, accuracy of diagnosis and quality of life . (3) Qualitative research (7 focus groups and 19 interviews) with patients of clinical genetics services, patient representatives and genetics health professionals explored the outcomes valued by those stakeholders, and resulted in construction of a model of empowerment . Data triangulation clarified that the qualitative findings support many of those from the Delphi, but identified some additional valued outcome domains that are not captured by available outcome measures, such as empowerment of other relatives and future generations . In conclusion, triangulation is a useful approach to investigate complex areas, such as outcome measurement . EP14.18 Psychological evaluation of familial ovarian cancer screening (PsyFOcs): study update and baseline psychological data D. Lancastle 1 , K. Brain 1 , L. Fraser 2 , U. Menon 2 , A. Rosenthal 2 , I. Jacobs 2 , J. Mackay 2 , R. Iredale 1 , C. Phelps 1 , M. Rogers 1 , J. Austoker 3 , C. Bankhead 3 , A. Clements 3 , E. Watson 4 ; 1 School of Medicine, Cardiff, United Kingdom, 2 Gynaecological Oncology, Institute for Women’s Health, UCL, London, United Kingdom, 3 Primary Care Research Education Group, Oxford, United Kingdom, 4 School of Health and Social Care, Oxford Brookes University, Oxford, United Kingdom. Purpose: The UK Familial Ovarian Cancer Screening Study (UK FO- CSS) aims to determine the effectiveness of ovarian cancer screening for women at significantly increased risk of familial ovarian cancer. Phase 2 of the study involves annual transvaginal ultrasound scan (TVS) of the ovaries and 4-monthly CA125 blood tests with further tests prompted by rising CA125 or abnormal TVS . Method: PsyFOCS is a prospective cohort study which aims to determine the psychological effects of ovarian cancer screening . Around 66% of women invited to PsyFOCS returned pre-screening baseline questionnaires . Results: Baseline analyses (N=991) showed that clinical levels of depression and anxiety were reported by 2 .63% (n=26) and 14 .63% (n=145) of women respectively . However, over a third (n=369, 37 .24%) were moderately or highly distressed about their ovarian cancer risk according to the Impact of Event Scale (IES). There were no significant associations between IES distress and prior ovarian TVS (p= .50) or the number (p= .95) or reported stressfulness (p= .56) of repeat ovarian cancer screening in the past . However, highly distressed women were significantly younger than those reporting moderate or low distress (p
EMPAG Posters patient (35% vs . 26%, p< .001) . Screening for sickle cell disease was offered more often by physicians presented with the “Black” patient (78% vs. 7%, p
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Concurrent Symposia ESHG CONCURRENT
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Concurrent Symposia s04.1 microRNA
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Concurrent Symposia 0 use of positi
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Concurrent Symposia s10.2 Non-invas
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Concurrent Symposia s13.1 Dysregula
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Concurrent Sessions ESHG CONCURRENT
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Concurrent Sessions receptor than t
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Concurrent Sessions an autosomal re
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Concurrent Sessions reporting, and
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Concurrent Sessions c06.3 clinical
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Concurrent Sessions c07.5 VLDLR (ve
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Concurrent Sessions 317,503 single
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Concurrent Sessions MYCN , E2F3 and
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Concurrent Sessions limb or thoraci
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Concurrent Sessions APC, BRCA1 and
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Concurrent Sessions identified 215
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Clinical genetics gene . Most of th
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Clinical genetics are indeed more d
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Clinical genetics P01.037 Validatin
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Clinical genetics 17 PKU patients f
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Clinical genetics L185R missense mu
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Clinical genetics P01.064 isolation
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Clinical genetics leles- is in acco
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Clinical genetics Sapienza” Unive
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Clinical genetics P01.090 Fragile X
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Clinical genetics P01.099 Deletion
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Clinical genetics other CNPs, the 1
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Clinical genetics FRAXA is the most
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Clinical genetics and PT 19 cm. Nec
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Clinical genetics P01.133 White mat
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Clinical genetics curved radii, uln
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Clinical genetics ered at the 33 rd
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Clinical genetics P01.160 character
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Clinical genetics P01.169 A variant
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Clinical genetics matological anoma
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Clinical genetics sition was identi
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Clinical genetics women ranges by p
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Clinical genetics MD2I or MDC1C sho
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Clinical genetics P01.215 the ctG r
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Clinical genetics pansion . Longer
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Clinical genetics frequency of this
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Clinical genetics mana, CUCS, Unive
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Clinical genetics P01.253 The first
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Clinical genetics consistent findin
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Clinical genetics P01.270 Genetic s
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Clinical genetics P01.279 Dilated c
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Clinical genetics objectives of our
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Clinical genetics P01.298 Hyperphos
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Clinical genetics P01.307 maternal
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Clinical genetics CM in monozygotic
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Clinical genetics P01.325 mowat-Wil
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Clinical genetics P01.334 Identific
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Clinical genetics birth defects is
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Clinical genetics The cause of this
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Clinical genetics were assumed to b
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Cytogenetics P01.369 three novel mu
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Cytogenetics P02.008 Reconfirmation
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Cytogenetics mosomal rearrangement
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Cytogenetics otide-based array plat
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Cytogenetics rangements ranged betw
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Cytogenetics 593 kb microdeletion a
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Cytogenetics We herewith report two
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Cytogenetics cise etiological diagn
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Cytogenetics deleted region contain
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Cytogenetics P02.078 mental Retarda
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Cytogenetics present on the right s
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Cytogenetics P02.096 Delineation of
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Cytogenetics P02.106 Aneuploidy of
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Cytogenetics biologic (cytogenetic)
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Cytogenetics - 60 .0) per 100 cells
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Cytogenetics netic map of deleted r
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Cytogenetics phic at delivery . Min
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Cytogenetics (according to question
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Cytogenetics P02.160 characterizati
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Cytogenetics DISCUSSION: In this st
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Cytogenetics from peripheral blood
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Cytogenetics did not influence upon
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Cytogenetics sented with ambiguous
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Cytogenetics normalities, cytogenet
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Cytogenetics P02.215 cytogenetic an
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Cytogenetics matozoa from carriers
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Cytogenetics of spermatogenesis in
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Prenental diagnostics Genotype Infe
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Prenental diagnostics T21 samples s
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Prenental diagnostics be withdrawn
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Prenental diagnostics The Consortiu
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Prenental diagnostics Here we descr
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Prenental diagnostics service deliv
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Prenental diagnostics cal Universit
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Prenental diagnostics nuchal transl
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Prenental diagnostics etal anomalie
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Cancer genetics forms . The typical
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Cancer genetics P04.012 A novel PtE
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Cancer genetics P04.021 comparative
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Cancer genetics P04.029 characteris
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Cancer genetics mutations detected
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Cancer genetics deleterious mutatio
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Cancer genetics Research Centre, Mo
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Cancer genetics P04.064 Dissection
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Cancer genetics P04.072 Acute promy
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Cancer genetics P04.081 Discordance
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Cancer genetics ity of the malignan
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Cancer genetics Method: mRNA level
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Cancer genetics preparations were o
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Cancer genetics ries.The identifica
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Cancer genetics P04.127 FGFR3 mutat
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Cancer genetics Our experience show
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Cancer genetics way consists of thr
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Cancer genetics and/or prognostic m
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Cancer genetics P04.162 HER-2/neu A
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Cancer genetics controls, by hetero
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Cancer genetics P04.179 molecular g
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Cancer genetics there are no change
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Cancer genetics P04.197 mutation in
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Genomics, technology, bioinformatic
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Page 417 and 418: Genetic counselling, education, gen
Page 433 and 434: Therapy for genetic disease 0 proce
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Page 471 and 472: Author Index Al-Owain, M.: P06.160
Page 473 and 474: Author Index 0 Baka, M.: P04.082 Ba
Page 475 and 476: Author Index Berwouts, S.: P09.20,
Page 477 and 478: Author Index P07.117 Buil, A.: P06.
Page 479 and 480: Author Index Cho, J.: P04.192, P08.
Page 481 and 482: Author Index Damy, T.: P01.057 Damy
Page 483 and 484: Author Index 0 Dror, A.: P05.074 Dr
Page 485 and 486: Author Index Fernandez-Real, J.: P0
Page 487 and 488: Author Index P06.310 Gavriliuc, A.
Page 489 and 490: Author Index Grinberg, Y. I.: P01.0
Page 491 and 492: Author Index Hood, L.: PL4.1 Hoogeb
Page 493 and 494: Author Index 0 P02.240, P09.63 Kala
Page 495 and 496: Author Index Kongstad, O.: P09.39 K
Page 497 and 498: Author Index Lee, C.: C13.3 Lee, D.
Page 499 and 500: Author Index Mahjoubi, F.: P02.045,
Page 501 and 502: Author Index P04.196 Meindl, A.: c0
Page 503 and 504: Author Index 00 Mottaghi, L.: P01.0
Page 505 and 506: Author Index 0 Oh, T. Y.: P01.084 O
Page 507 and 508: Author Index 0 Peñaloza, R.: P05.2
Page 509 and 510: Author Index 0 Proverbio, M.: P05.0
Page 511 and 512: Author Index 0 Rogers, M.: EP14.18
Page 513 and 514: Author Index 0 Scarcella, M.: P05.0
Page 515 and 516: Author Index P06.179 Sobrino, B.: P
Page 517 and 518: Author Index Taschner, P. E. M.: P0
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Author Index Urreizti, R.: P01.050,
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Author Index Voegele, C.: P04.121 V
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Author Index 0 P04.095, P04.106 Zem
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Keyword Index AMACR gene: P04.182 a
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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