2008 Barcelona - European Society of Human Genetics

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EMPAG Plenary Lectures EMPAG PLENARY LECTURES EPL1.1 Recall and interpretation in genetic counselling, after intake and non-informative DNA-test results in BRCA1/2: discrepancies, explanations and consequences J. Vos 1 , C. J. Van Asperen 1 , J. C. Oosterwijk 2 , E. B. Gomez Garcia 3 , F. H. Menko 4 , J. M. Collee 5 , A. M. Stiggelbout 6 , A. Tibben 1 ; 1 Leiden University Medical Center, Center of Human and Clinical Genetics, dep. of Clinical Genetics, Leiden, The Netherlands, 2 University Hospital Groningen, dep. of clinical genetics, Groningen, The Netherlands, 3 Maastricht University Medical Center, dep. of clinical genetics, Maastricht, The Netherlands, 4 VU University Medical Center, dep. of clinical genetics, Amsterdam, The Netherlands, 5 Erasmus Medical Center Rotterdam, dep. of clinical genetics, Rotterdam, The Netherlands, 6 Leiden University Medical Center, dep. of Medical Decision Making, Leiden, The Netherlands. Background The patients’ subjective interpretation of genetic counselling may be as important as correct understanding . Methods In study I, 166 cancer patients filled-in a questionnaire after intake for hereditary breast/ovarian cancer . To date, 31 of them received an inconclusive (no-mutation) DNA-test result and filled-in a second questionnaire . In study II, 24 cancer patients were interviewed 1-3 years after receiving an Unclassified Variant-result (i.e. variant-ofuncertain-clinical-significance). Results In study I, although most counselees correctly recalled the communicated medium heredity and intermediate/high cancer risks, they interpreted this like pathogenic information . After inconclusiveresults, counselees correctly recalled the counsellor communicating a non-informative DNA-result with unchanged cancer risks . However, heredity was recalled as low and interpreted as medium . In study II, sixty-seven percent recalled having received a non-informative DNA-result, but 80% interpreted this as pathogenic . In both studies, discrepancy between interpretation and recall were explained by previous interpretations, health history, genetic uncertainty, denial coping style, autonomy, self-acceptance, low need for certainty . In both studies, interpretation explained changes in intended and actual cancer screening and surgery; in study I, recall explained some of these changes . Discussion Counselees subjectively interpreted intake information and non-informative DNA-results as being more pathogenic than how they factually recalled counselling sessions . Interpretation explained more than recall . Previous interpretations, health, and personality explained recall-interpretation discrepancies . The decrease in recalled/interpreted heredity after inconclusive results is probably due to correction of pathogenic interpretation at intake, and need for certainty . Counsellors and researchers should address discrepancies between the counselees’ recall and interpretation of genetic information . EPL1.2 is enhanced information at genetic counselling necessary? A randomised study A. Roshanai1 , R. Rosenquist2 , K. Nordin1 ; 1 2 Department of Public Health and Caring Sciences, Uppsala, Sweden, Department of Genetics and Pathology, Uppsala, Sweden. Purpose: The aim of this randomized study was to explore the effect of receiving enhanced onco-genetic information on probands’ knowledge, risk perception, distress and communicating information to atrisk relatives . Patient and methods: A total of 148 subjects (134 female and 14 male) who attended genetic counselling at the onco-genetic clinic of Uppsala University Hospital, Sweden (2003-2006) were randomised to information (n=85) or control (n=78) groups . The intervention group received the videotaped session, a copy of medical records, pedigree and a pamphlet about basic genetic concepts . Additionally, they had contact with a specialist nurse for more discussion and further questions . The control group received the standard information and the video in association with last follow-up eight month later . The knowledge about hereditary cancer, levels of emotional distress and personal risk estimations were measured at the base line, two weeks and eight months later . Results: The majority had a high level of knowledge about hereditary cancer, although a significant improvement was observed in breast cancer group after counselling . The levels of anxiety and depression indicated a significant reduction at follow-ups. At tow-weeks follow-up, the correct estimation of personal risk for developing hereditary cancer, compared to initial estimation pre-counselling, had changed from 47% to 90% in the intervention and from 45% to 85% in control group . The majority (86% in control and 95% in intervention group) intended to communicate the genetic information to their relatives . Conclusion: Enhanced information did not improve the participants risk perception . However the intention of informing relatives was elevated . EPL1.3 Determining the genetic status of women newly diagnosed with breast cancer prior to treatment decisions: An ethical challenge E. A. Lobb 1,2 , N. Hallowell 3 , K. Barlow-Stewart 4 , G. Suthers 5 ; 1 Medical Psychology Research Unit, University of Sydney, Camperdown, Australia, 2 WA Centre for Cancer & Palliative Care, Curtin University of Technology, Perth, Australia, 3 Public Health Sciences, The University of Edinburgh, Edinburgh, United Kingdom, 4 Centre for Genetics Education, Royal North Shore Hospital, St Leonards, Australia, 5 Familial Cancer Unit, Department of Genetic Medicine, Children’s Youth & Women’s Health Service, Adelaide, Australia. Background: Ethical issues raised in genetic consultations for common diseases, for example, confidentiality and the disclosure of genetic information from bioethical, legal and user perspectives have been documented . However, less is known about cancer genetics service providers’ experience of ethical issues that arise in their practice . Aims: This study aimed to document the types of issues practitioners define as ethically contentious in their practice, with what frequency they occur, or how they attempt to resolve them . Method: We undertook semi-structured telephone interviews with 21 genetic counsellors and 13 clinicians . All interviews were tape-recorded, transcribed verbatim and a thematic analysis was undertaken . Results: BRCA1/2 mutation testing to tailor the management of newly diagnosed high risk women was identified as a future ethical challenge for cancer genetics services. Themes identified included balancing the ethical concept of “do no harm” with the rights of women to be fully informed prior to making treatment decisions; questioning the ability of a woman to fully comprehend the implications of a positive mutation test on herself and other family members and managing the increasing client load on limited clinic resources . The importance of involving genetic counsellors in the multi-disciplinary team was emphasised . Clinicians identified fewer barriers to fast tracking BRCA1/2 testing than did genetic counsellors . Conclusion: Further understanding of the barriers to the management of BRCA1/2 testing in newly diagnosed breast cancer patients is needed to guide future cancer genetics practice as clinical testing is likely to transform the direction, priorities and processes of cancer genetic services . EPL1.4 impact of using family history on motivation to prevent type 2 diabetes: an Rct M. Pijl 1,2 , D. R. M. Timmermans 1,2 , L. Claassen 1,2 , A. C. J. W. Janssens 3 , G. Nijpels 1,4 , T. M. Marteau 5 , L. Henneman 1,2 ; 1 Department of Public and Occupational Health, VU University Medical Center, Amsterdam, The Netherlands, 2 EMGO-Institute, VU University Medical Center, Amsterdam, The Netherlands, 3 Department of Public Health, Erasmus University Medical Center, Rotterdam, The Netherlands, 4 Department of General Practice, VU University Medical Center, Amsterdam, The Netherlands, 5 Psychology & Genetics Research group, King’s College, London, United Kingdom. Genetic susceptibility testing for many multifactorial diseases is not yet warranted . Family history is an important risk factor for many common chronic diseases that may be used as a surrogate marker for genetic susceptibility . The aim of this study was to assess the potential effectiveness of communicating familial risk of type 2 diabetes and emphasising preventive options, on intentions to change behaviour to reduce the risk . Individuals with a positive family history of diabetes were randomised into two groups: risk information based on general risk factors and familial risk (n=54) (intervention group) or risk information based on general risk factors alone (n=54) (control group) . The information was provided during a personal consultation . Intentions to change health behaviour, self-reported behaviours (healthy diet; physical activity), perceived causes and severity of diabetes, perceived controllability,
EMPAG Plenary Lectures and perceived risk were assessed using questionnaires (at baseline, one-week, and three-months follow-up) . Compared with those receiving information based on general risk factors alone, those receiving information on familial risk perceived heredity to be a more important cause of diabetes (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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Page 389 and 390: Normal variation, population geneti
Page 399 and 400: Genomics, technology, bioinformatic
Page 417 and 418: Genetic counselling, education, gen
Page 433 and 434: Therapy for genetic disease 0 proce
Page 435 and 436: Therapy for genetic disease The die
Page 437 and 438: Therapy for genetic disease Science
Page 439: Therapy for genetic disease P10.26
Page 443 and 444: EMPAG Plenary Lectures 0 mutation i
Page 445 and 446: EMPAG Plenary Lectures EPL5.2 the m
Page 447 and 448: EMPAG Workshops Methods The matrix
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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
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Author Index Hood, L.: PL4.1 Hoogeb
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Author Index 0 P02.240, P09.63 Kala
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Author Index Kongstad, O.: P09.39 K
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Author Index Lee, C.: C13.3 Lee, D.
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Author Index Mahjoubi, F.: P02.045,
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Author Index P04.196 Meindl, A.: c0
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Author Index 00 Mottaghi, L.: P01.0
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Author Index 0 Oh, T. Y.: P01.084 O
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Author Index 0 Peñaloza, R.: P05.2
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Author Index 0 Proverbio, M.: P05.0
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Author Index 0 Rogers, M.: EP14.18
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Author Index 0 Scarcella, M.: P05.0
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Author Index P06.179 Sobrino, B.: P
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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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