POSTGRADUATE MEDICAL TRAINING. FMH Medical Genetics
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1 Concept de formation post-graduée 1/13 Génétique Médicale CHUV-Lausanne POSTGRADUATE MEDICAL TRAINING FMH Medical Genetics at the Service of Medical Genetics, Department of Gynecology, Obstetrics and Genetics (DGOG) Centre Hospitalier Universitaire Vaudois (CHUV) and Université de Lausanne (UNIL) Head of the Service : Prof. Jacques S. Beckmann, Professeur ordinaire de la Faculté de Médecine à Lausanne Clinical geneticists : Dr med. Marie-Claude Addor, FMH for Medical Genetics; Dr med Florence Fellmann, spécialiste en génétique médicale; Dr med Sébastien Jacquemont, spécialiste en génétique médicale; Dr Christian Monnerat, FMH for Internal Medecine and Oncology Cytogenetic diagnostic laboratory and molecular cytogenetic laboratory : Anne- Claude Gaide, FAMH; Dr Danielle Martinet, FAMH Molecular diagnostic laboratory : Dr Francine Thonney, FAMH Unit of cancer cytogenetics : Prof. Martine Jotterand, PhD FAMH; Dr Dominique Mühlematter, PhD FAMH; Dr Valérie Parlier, PhD FAMH; Dr Sarah Porter, PhD, registered clinical scientist Number of supervisors: 5 Genetic counsellor : 1 Actual number of trainees: 1 (1) Postgraduate Medical training for the FMH Medical Genetics (A) Description of the postgraduate training centre Genetic Medicine in Lausanne was first developed in the late 60 s by Professor E. Juillard and Dr A. Catti. Their successor was Professor Graziano Pescia, who, in collaboration with the obstetricians of the Maternity, was the pioneer for chorionic villi sampling analysis. Professor Daniel Schorderet acted as interim head of the Division from November 1998 till September Since then, the current head is Professor Jacques S. Beckmann and the Division was upgraded to a Service. The whole Service of Medical Genetics consists of approximately 50 individuals with main goals of patient care, research and teaching. Its structure is affiliated both with the University of Lausanne's Medical School and the CHUV. In the latter, its clinical and laboratory diagnostic activities are under the auspices of respectively the Department of Gynaecology, Obstetrics and Genetics (DGOG) and the Department of Laboratory Medicine (DML).
2 2 (B) Organisation of the Service of Medical Genetics in Lausanne : 1. Clinical unit (genetic counselling and diagnostics in nearly all medical specialities : fetal medicine, prenatal diagnosis, dysmorphology/syndromology, malformations, pediatric diseases, complex diseases of the adult, neurogenetics, nephrogenetics, cardiogenetics, dermatogenetics, oncogenetics). 2. Medical genetics diagnostic laboratories Conventional cytogenetics (pre- and postnatal), Cancer cytogenetics (hemopathies), FISH, CGH, molecular diagnosis (pre- and postnatal), cell culture. 3. Research groups (of the CHUV s Service and the Unil's Department of Medical Genetics) 4. Registry of congenital anomalies in the canton of Vaud (EUROCAT) : provides essential epidemiologic information on congenital anomalies in our population and is integrated in the European network of the 43 registries of 20 european countries (EUROCAT : "European surveillance of Congenital Anomalies"). The clinical unit covers referrals from the whole canton of Vaud as well as some referrals from other Cantons. (C) Specialised consultations within the University Hospital of Lausanne (CHUV) and in collaboration with the experts in the respective clinical fields : In Cardiology: Cardio-genetic consultation In Dermatology In Gynecology and Obstetrics (Fetal Medecine, prenatal diagnosis, infertility clinic) In Nephrology : MRG (maladies rénales génétiques) In Neurology : predictive testing, neurogenetics In Oncology : (Dr Ch. Monnerat, FMH) In Pediatrics (Neonatology, Unit of child development, Neuro-pediatrics, Pedopsychiatry, Pediatric orthopedia) Apart from these specialised consultations we have referrals from nearly all medical specialities of the CHUV or from the external medical doctors : ophthalmology, ENT, surgery, endocrinology, psychiatry. (D) Statistics (see attached file) (E) Postgraduate training for FMH Medical Genetics We usually employ trainees for 2 years and encourage them to spend the third year in another institute of medical genetics. Coaching conditions are extremely favourable as there are, not counting the genetic counsellor, actually 5 supervisors for 1 trainee.
3 3 Mandatory during the two years of postgraduate training : Active participation to all genetic consultations and clinical staff meetings. Active participation to weekly staff meeting Rotation of up to 3 months in the cytogenetic diagnostic laboratory Rotation of up to 3 months in the molecular diagnostic laboratory Regular postgraduate training seminars in collaboration with the Division of Medical Genetics in Geneva (once a month) Bimonthly staff meetings on dermatogenetics Monthly meetings on neurogenetics Weekly nephrogenetics staff meeting Pedopsychiatric staff meeting Prenatal staff meeting (twice a month) REMPOL oncogenetic staff meeting (5 x per year) Réunion Vaud / Genève (3-4x /year with regular active participation) Swiss dysmorphology meeting (2-3x/year with regular active participation) Participation at the bi-annual meeting of the Swiss Society of Medical Genetics Once a year participation to an international congress or postgraduate training course of Medical genetics (financed by the CHUV) Facultative : Pediatrics: Colloque Formation Pédiatrie (1x/week) Formation générale du CHUV pour les médecins internes de toutes spécialités Weekly research lab meetings in the dept of Medical Genetics (UNIL) According to the personel interest of the assistant (F) Educational materials access to the Service's journal and book collection as well as to the main library of the faculty of Medecine in the main building of the CHUV Updated books and databases (POSSUM, LDDB-Winter-Baraitser, OMIM, Geneclinics) in the medical office Internet-access with free download possibility for nearly all medical journals at each working place (G) Evaluation of the trainees The consultants plan regular evaluations (at least twice a year) of the trainees and support their individual carrier planning. In addition the trainees get at the end of their postgraduate training programme an official FMH certificat evaluation. (2) Postgraduate Medical training for another FMH speciality Occasionnaly we also get an assistant for a 6-12 months period, a postgraduate trainee in another FMH specialty (mostly in pediatrics or gynecology).
4 4 APPENDIX Data Consultation type Number 2003 Number 2004 Number 2005 Changes with respect to 2004 Ambulatory 970 (prenatal diagnosis) (546) 918 (539) 956 (562) + 4.1% + 4.2% Hospital % Total % CONSULTATIONS Prenatal diagnosis Mental retardation dysmorphism malformations Genetic counselling Oncogenetics Infertility FC Unknown 2 Total
5 5 Eurocat - VAUD Cases and prevalence per 10,000 births Denominator : Total number of births (live and still) : 7092 Age of mother >= Total number of live births : 7064 Age of mother < Anomaly Subgroup LB (n) FD (n) IA (n) LB+FD+IA (n) LB+FD+IA (rate) All Cases ,94 All Cases (2003) ,46 Nervous system ,25 Neural Tube Defects ,74 Anencephalus and similar ,46 Encephalocele ,05 Spina Bifida ,23 Hydrocephaly ,41 Microcephaly ,41 Arhinencephaly/holoprosencephaly ,41 Eye ,64 Anophthalmos/microthalmos ,00 Anophthalmos ,00 Microthalmos ,00 Cataract ,41 Ear , ,82 Anotia ,41 Microtia ,41 Congenital heart disease ,18 Anomalies of cardiac chambers and connections ,23 Common arterial truncus ,00 Transposition of great vessels (complete) ,00 Single ventrical ,41 Malformations of cardiac septa ,03 Ventricular septal defect ,68 Atrial septal defect ,58 Atrioventricular septal defect ,87 Tetralogy of Fallot ,82 Malformations of valves ,97 Tricuspid atresia and stenosis ,41 Ebstein's anomaly ,00 Aortic valve atresia/stenosis ,82 Hypoplastic left heart ,82 Malformations of the great arteries and veins ,43 Coarctation of aorta ,82 Cleft lip with or without palate ,05 Cleft palate ,51 Digestive system ,79 Tracheo-oesophagal fistula-oesophageal atresia and stenosis ,41 Congenital absence, atresia and/or stenosis of the small intestine ,05 Congenital absence, atresia and/or stenosis of the duodenal ,64 Congenital absence, atresia and/or stenosis of other specified parts of small intestine ,41 Ano-rectal atresia and stenosis ,82
6 6 Internal urogenital system-ovaries uterus and renal system ,68 Bilateral renal agenesis ,00 Cystic kidney disease ,64 Congenital hydronephrosis ,87 Bladder extrophy ,23 External genital system ,66 Hypospadias ,64 Indeterminate sex ,00 Limb ,25 Limb reduction ,64 Upper limb reduction ,64 Complete absence of upper limb ,41 Absence of upper arm and forearm with hand present ,00 Absence of both forearm and hand ,00 Absence of hand and fingers ,23 Longitudinal reduction defect/shortening of arm ,41 Lower limb reduction ,41 Complete absence of lower limb ,00 Absence of thigh and lower leg with foot present ,00 Absence of both lower leg and foot ,00 Absence of foot and toe ,41 Longitudinal reduction defect/shortening of leg ,00 Polydactyly ,46 Syndactyly ,23 Musculoskeletal and connective tissue ,48 Choanal atresia ,00 Craniosynostosis ,82 Pierre Robin Syndrome ,23 Mandibulofacial dystosis (Treacher-Collins and Franceschetti) ,00 Oculomandibular dysostosis (Hallerman-Streiff ,00 Goldenhar's Syndrome ,00 Chondodystrophies and osteodystrophies ,82 Diaphraghmatic hernia ,41 Omphalocele ,46 Gastroschisis ,82 Prune Belly Syndrome ,41 Chromosomal ,09 Down Syndrome ,66 Patau syndrome (trisomy 13) ,41 Edward syndrome (trisomy 18) ,05 Other trisomies and partial trisomies of autosomes ,64 Monosomies and deletions from the autosomes ,64 Turner's syndrome ,46 Klinefelters syndrome ,23 Anomalies outside normal range ,82 All Cases ,94 LB - Live Births FD - Fetal deaths / Still Births from 20 weeks gestation IA - Induced Abortions following prenatal diagnosis - Data not available
7 7 Laboratory for molecular analyses Rapports d analyse Le nombre de rapports d analyse émis est d environ 448 (459 en 2004). Indications Nombre rapports Pt OFAS >= Contr. Qual. Nombre rapports Pt OFAS Contr. qual. At. de Friedreich SCA SCA SCA SCA SCA DYT Chorée de H DRPLA Surdité CMT1A Tomaculose * CMTX Alpha-1-antitrypsine FGFR FGFR FGFR TWIST Fièvre méd Hémochromatose Mucoviscidose-CFTR Stérilité-CFTR Prader Willi, Angelmann X fragile Steinert SMA Norrie MTM Y microdél UPD Contrôle contamination maternelle Kennedy Divers Sous-traitance c.q. séquençage Total rapports Extractions ADN facturables Total pt OFAS >=
8 8 Autres prestations : Mise en banque sans analyse Extractions ADN non facturables CGH sur chromosomes Echantillons envoyés à des laboratoires externes Activité de prestation par technique Nb Analyses par PCR Nb Analyses par Southern Nb Séquen çages échantillons séries échant/ série (1,2 à 8,1) contrôles/ série échantillons séries échant/ série 2, (1,5 à 4.3) contrôles/ série séquences Électrophorèse s capillaires (développement) passages 2,
9 9 Laboratory for constitutional cytogenetics Nbre total d analyses: augmentation % Nombre total d'analyses CYTOGENETIQUE MOLECULAIRE : CGH % % % % AFP CYTOGENETIQUE MOLECULAIRE : FISH % % CYTOGENETIQUE CONVENTIONNELLE 0 Annˇe: Nb total d'analyses Evaluation de l adéquation du nombre d analyses cytogénétiques et des forces de travail (y.c développement + recherche) Année Augm (%) Augm (%) Nbre total d'analyses (cytogén.) Personnel technique Supervision Nbre total points OFAS 1'081'000 1'229' '
10 10 Anomalies les plus Fréquemment Observées (Pré- et Post Natal) : Les anomalies les plus fréquentes sont en % : Trisomie Réarrangements chromosomiques Trisomie Chromosomes sexuels 16 6 Nombre total d analyses cytogénétiques : augm. % analyses prénatales % analyses postnatales % analyses prénatales externes % analyses postnatales externes % REPARTITION selon les types de tissus Analyses prénatales Analyses postnatales
11 TOTAL TOTAL Nombre total d analyses de cytogénétique moléculaire augm. % FISH %
12 FISH dévelop/recherche CGH FISH métaph. FISH interph % % % % Année Total
13 13 Cancer cytogenetics unit Activité diagnostique Nombre de prélèvements et nombre d'analyses effectuées par cytogénétique conventionnelle (CC) Evolution Nb de prélèvements Nb d'analyses par CC Analyses effectuées par FISH (avec ou sans cytogénétique conventionnelle) : Evolution Nb d'analyses par FISH associées à une analyse par CC Nb d'analyses par FISH seule
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