2008 Barcelona - European Society of Human Genetics

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EMPAG Posters EP01.10 Association of coL1A1 Gene alleles with the development of symphysis joints pathology in pregnant women in the Kazakh population S. K. Kyzdarbaeva L.I.; NCAGP, Almaty, Kazakhstan. Pregnancy has a negative influence on the skeleton and the development of osteoporosis . Patients with symptoms of symphysiolysis are seen in the symphysiopatias clinic . Objective To investigate the distribution of TG polymorphisms in the CoLl A1 gene with development symphysis joints pathology of Kazakh population . Subjects DNK 42 healthy pregnant females (the control group) and 30 pregnant with symphysopathias (patient group) . Results . The GG genotype was present in 64,2% of Healthy pregnant women and in 36,6%, of the patient group (p
EMPAG Posters with resultant specialist care for the families . An audit of conditions referred to GHSV, uptake by families, role of genetic counsellor at coronial and clinical service and outcomes over a 2 year period is discussed and presented as a model for future and extended collaboration between forensic and clinical medical genetics unit . EP05. Access to genetic services (challenges in Europe) EP05.1 Why don’t Deaf People come for Genetic counselling? A. Middleton1 , S. Emery2 , G. Turner2 , A. Clarke1 , S. Sarangi3 ; 1Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom, 2Department of Languages & Intercultural Studies, School of Management & Languages, Heriot-Watt University, Edinburgh, United Kingdom, 3Health Communication Research Centre, School of English, Communication and Philosophy, Cardiff University, Cardiff, United Kingdom. Despite genetic deafness being one of the most common genetic conditions, deaf adults very rarely access genetic counselling, neither to discuss deafness nor other conditions that may be running through their family, e .g . cancer . Each genetics centre in the UK will have several thousand deaf sign language users within their catchment area; however, referrals are likely to be received for less than 5 deaf adults per year . There may be many complex reasons behind this - e .g . lack of information, assumptions about inheritance, mistaken beliefs of a link between present-day genetics services and eugenic practices of the past or fears about being told not to have children . This project aims to gather the views of various different groups of people with deafness, looking specifically at the above issues. 30 interviews have been conducted in sign language and qualitative analysis performed . Video clips of deaf people signing their views about genetics will be shared as well as results from a large (n = 1000) quantitative study gathering attitudes. The research findings offer suggestions as to why currently genetics services are very rarely used by deaf patients in the UK . Once more is understood about this then steps can be taken to address access issues . EP05.2 Genetic Led multidisciplinary clinics As communities of Practice S. A. Watts; Guy’s Hospital, London, United Kingdom. Care for patients and their families with genetic disease has become increasingly complex in recent years due to a rapid rise in scientific knowledge, expanding technological innovation and demand for services, resulting in a need for multidisciplinary working . Although such working is well documented in general healthcare there is sparse literature within the specialty of clinical genetics . The results of an ethnographic study, which sought to examine the way in which patient care was organised and delivered in three multidisciplinary clinics in a Regional Genetic Centre in the UK, will be presented . Different models of healthcare were identified. However, data analysis using the theoretical framework of Communities of Practice (Wenger 1998), a theory of social learning and participation, suggests that functioning of the clinics is more closely related to the way in which clinicians establish a specific pattern of working together. The principal factor that contributes to the success of the clinics is that of coherence . The Genetic Counsellors play a crucial role to this coherence by acting as maintainers of the clinic . The results of this study contribute to our understanding of multidisciplinary working within clinical genetics and are important for the future planning and implementation of healthcare for patients with genetic disease . EP05.3 European Network of Genetic Nurses and counsellors C. Patch1 , H. Skirton2 ; 1 2 Guys and St Thomas’ NHS Foundation Trust, London, United Kingdom, University of Plymouth, Taunton, United Kingdom. While there are a growing number of non-medical genetic practitioners in clinical practice in Europe, there is no European-wide organisation dedicated to the needs of those professionals . In an environment where the numbers of genetic tests are growing, the need to educate and develop non-medical practitioners who are competent in genetics is essential . Importantly, nurses and counsellors may also be working in situations with few colleagues, where peer support is hard to access . To address these needs, late in 2007, with the support of the ESHG, a new European Network of Genetic Nurses and Counsellors was initiated . An invitation to join the network was sent to EuroGentest and ESHG members, requesting that they pass it on to any genetic nurses or counsellors known to them in their countries. Language is a difficulty and colleagues from several countries have offered to translate the information for colleagues who do not speak English . It is clear from the responses that professionals in many countries are trying to develop this new profession and are keen to use the network for support during this important period . A questionnaire has been sent to establish the aims and focus of this network and the findings will be presented at an initial meeting of the network at the EMPAG/ESHG conference in Barcelona As of February 2008, the network has 72 registered members from Netherlands, France, Spain, Portugal, Denmark, Sweden, Finland, Italy, Croatia, Bulgaria, UK, Czech Republic, Greece, Belgium, Cyprus, Ireland, Turkey, Israel, Switzerland, Poland and Iceland . EP05.4 the value of personal interaction: can a family history questionnaire replace a face-to-face family history gathering appointment with the genetic counsellor for parents of children with an undiagnosed genetic syndrome? B. J. Dell 1 , G. Westwood 2 , C. Phelps 3 ; 1 School of Medicine, Cardiff, United Kingdom, 2 Wessex Clinical Genetics Service, Southampton, United Kingdom, 3 Institute of Medical Genetics, Cardiff, United Kingdom. Evidence suggests that parents often feel unprepared for their contact with Genetic Services (Skirton, 2006) . Whilst family history questionnaires (FHQ) are increasingly used to gather data prior to attending a genetics clinic, such questionnaires have been found to raise anxiety (Phelps et al, 2006) and can act as a barrier to accessing services (Geer et al, 2001) . This pilot study explored the impact of completing a specially developed FHQ upon subsequent perceptions of providing a family history face-to-face . Seven parents completed the FHQ and an evaluation questionnaire . Results revealed that whilst the completion of the FHQ did not have any overall negative impact, it did have the potential to raise distress when asking for sensitive details such as miscarriages . Four parents also completed telephone interviews to explore their perceptions of the FHQ and their appointment with the Genetic Counsellor . Thematic analysis revealed that parents encountered obstacles to the completion of the FHQ and that they appreciated their personal interaction with the Genetic Counsellor, which provided an opportunity for them to gain reassurance, to ask questions about the referral process and to clarify the relevance of the family history details . The combination of both the FHQ and the Genetic Counsellor clinic was the preferred option, permitting the parents to be better prepared to utilise their contact with the genetic services . EP06. Lay beliefs and public understanding of genetics EP06.1 Using ethnography to optimise clinical practice in cancer genetics services M. T. Saleh 1,2 , B. Meiser 2 , K. Tucker 3 , J. Kirk 4 , M. Eisenbruch 5 , K. Barlow-Stewart 1 ; 1 Centre for Genetics Education, St Leonards, NSW, Australia, 2 The University of NSW, Sydney, Australia, 3 Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, Australia, 4 Familial Cancer Service, Westmead Hospital, Sydney, Australia, 5 Monash University, Melbourne, VIC, Australia. This project explores, using ethnography, the cultural beliefs about inherited susceptibility to cancer amongst the Arabic-Australian Community .
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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 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 and 440: Therapy for genetic disease P10.26
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Page 447 and 448: EMPAG Workshops Methods The matrix
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Page 455 and 456: EMPAG Posters ties raised by IBMPFD
Page 457 and 458: EMPAG Posters ics, Nicosia, Cyprus,
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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,
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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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