I Med Genet 1993; 30: 147-152

GENETICS IN CLINICAL PRACTICE

The specialty of clinical genetics: EuropeanSociety of Human Genetics survey

Rodney Harris, Judith A Rhind

In Spring 1991 the Board of the EuropeanSociety of Human Genetics (ESHG) set up a

working party to review manpower andtraining in medical genetics in the EuropeanCommunity and beyond. The present reportreviews the results of the first phase includingthe official status and training of physicians inclinical genetics. Later phases will be con-cerned with the status and training of labora-tory genetic workers whose role it is to developand carry out cytogenetic, molecular, andother tests.

The survey

A network was established from each countryof one or two informants whom we believedwere well informed about manpower andtraining. We asked them to complete an initialand a supplementary questionnaire which ad-dressed, among other things, the following:

Genetic EnquiryCentre, Departmentof Medical Genetics,St Mary's Hospital,Manchester M13 OJH.R HarrisJ A Rhind

Correspondence toProfessor Harris.Received 15 July 1992.Accepted 27 July 1992.

(1) whether clinical genetics is formally recog-nised as a specialty, (2) the arrangements forappointing specialists and their currentnumbers, (3) whether a training programmehad been established, how was it supervised,what are the current number of trainees,length and content of training, (4) whetherthere is a need for a common European dip-loma in clinical genetics.

ResultsTables 1 and 2 summarise the informationgiven by informants for all EC and some non-EC countries and a precis of comments fromeach informant is given in the appendix.

Clinical genetics is officially recognised inonly four EC countries (Germany, the Nether-lands, Portugal, and UK) with a total of 171specialists, and in six non-EC countries (Aus-tria, Czechoslovakia, Finland, Israel, Norway,

Table 1 European Community countries: recognition of clinical genetics as a specialty and training programmes.Country Is specialty of clinical No of clinical Is there a formal No of trainees Duration of

genetics recognised? geneticists training programme? training (yearsl)Belgium No 0 No 0 -

Denmark No (14) No (3) 9France No (30) Yes 20 2Germany Yes - 50 Yes 35 2Greece No 0 No 0 -

Ireland No 0 No 0 -

Italy No 0 No 0 4Netherlands Yes 34 Yes 11 4Portugal Yes 32 Yes 4 3Spain No 0 No 0 -

UK Yes 55 Yes 39 4Total 4/11 171 (215*) 5/11 109 (112t)* Includes 44 clinical geneticists from countries without formal recognition of the specialty.t Includes 3 trainees from Denmark.t Not always clear whether includes time gaining paediatric or internal medicine experience.

Table 2 Non-European Community countries: recognition of clinical genetics as a specialty and trainingprogrammes.

Country Is specialty of clinical No of clinical Is there a formal No of trainees Duration ofgenetics recognised? geneticists training programme? training (years)

Austria Yes 4 No (10) 3Czechoslovakia Yes 51 Yes 15 3Egypt No (1) Yes 16 6Finland Yes 10 Yes 9 5Hungary No (28) No 0 -

Israel Yes 17 Yes 2 2Norway Yes 23 Yes 5 5Romania No 0 No (7) -

Russia No (200) No (25) 2Sweden Yes 14 Yes 2 5-5Switzerland No (10) Yes ? 4Total 6/11 119 (358*) 6/11 49 (91t)* Includes 239 clinical geneticists from countries without formal recognition of the specialty.t Includes 42 trainees from countries without formal programmes.Data are awaited from the following non-EC countries: Bulgaria, Yugoslavia, Poland, and Turkey.

147

on Novem

ber 26, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.30.2.147 on 1 F

ebruary 1993. Dow

nloaded from

Harris, Rhind

and Sweden) with 119 specialists. In seven ECand five non-EC countries there is no formalrecognition, but 44 and 34 specialists respect-

ively were reported to be working in thesecountries as, for example, paediatricians butalso others including non-medical staff whooffer clinical genetic services. Procedures foraccreditation differ and in this first survey it isdifficult to assess comparability between coun-

tries of the role and training of clinical geneti-cists.

Established training programmes in clinicalgenetics were reported by informants from fiveEC countries (France, Germany, the Nether-lands, Portugal, and UK) and six non-ECcountries (Czechoslovakia, Egypt, Finland,Israel, Norway, and Sweden) with a total of109 and 49 trainees, respectively. In Denmarkad hoc arrangements add another three trai-nees. The reported duration of training variesfrom two years (France, Germany) to up to

nine years (Denmark). There is general agree-

ment about the skills required by clinical gen-

eticists and consequently about the content oftraining programmes. In more than halfthe EC and non-EC countries respondentsstrongly support the establishment of a Euro-pean diploma in clinical genetics.

DiscussionAlthough national surveys have been carriedout (in Britain for example'), this is the firstEuropean survey of clinical genetics. It does,however, rely on the personal knowledge ofonly one or two informants in each countryand future surveys will require further refine-ment, clarification, and amplification. In par-

ticular, the role of clinical geneticists in some

countries is not clear in relation to paediatri-cians and other specialties and to non-medicalscientists. It is emphasised that genetics is partofmany specialties and clinical geneticists withtheir specific role (see below) do not replacethis involvement of others.

Nevertheless the results are disturbingbecause they show how inconsistent are thespecific clinical provisions for genetic patientsand families, especially as recent years haveseen enormous advances in the precision ofgenetic diagnosis both clinically and in thelaboratory. These advances have greatlyincreased the ability of doctors to help indi-vidual persons and families with genetic andcongenital disorders, but have also createdpotential ethical problems especially in con-

nection with prenatal and population screen-

ing and with gene therapy. For these reasons itis important to identify the aims of geneticservices in terms that leave no doubt about thecommitment of clinical geneticists to the over-

riding importance of human autonomy. Theseaims have been defined in Britain2 as follows.

AIMS OF MEDICAL GENETICS

(1) The provision of reproductive options byappropriate tests, services, and counsel-ling.

(2) The prevention of genetic disease and con-

genital disability only if subjects are wellinformed and are free to accept or rejectscreening and prenatal diagnosis.

(3) Collaboration with other clinicians in themost effective management of patients.

(4) The pursuit of genetic research to expandthe base of genetic knowledge.

(5) Teaching genetics to medical students andothers and the provision of information toprofessionals and the public to increaseunderstanding of the role and potential ofgenetics in health and disease.

ROLE OF CLINICAL GENETICISTSThe role and training of clinical geneticistswere the subject of a Clinical Genetics Societyworking party in 1983' which with subsequentexperience identifies the need for wellinformed and experienced clinical geneticistswho (often in collaboration with others) havethe ability to diagnose a wide variety of inher-ited and dysmorphic disorders affecting anybody system and at any age. Such cliniciansmust therefore have a firm basis in medicaltraining, with special experience of paediatricsand relevant adult specialties including neuro-logy. The clinical geneticist must be able torecognise the importance of genetic hetero-geneity, the range of human normality, thestress caused by genetic disorders in families,and the ethical issues raised by abortion, gen-etic screening, confidentiality, and otherissues. The clinical geneticist must be aware ofboth the power and the limitations of labora-tory genetics and be capable of combiningclinical, pedigree, and investigational data intorisk estimates upon which individual personsand families can make fundamental decisions,particularly about procreation. The clinicalgeneticist must be able to communicateempathically and non-directively when coun-selling patients and must relate well to nursesand other clinical co-workers capable ofextending support to families in the com-munity. Because of rapid advances in genetictechnology, the clinician in this field mustretain flexibility and this is encouraged byinvolvement in research.

TRAINING OF CLINICAL GENETICISTSAmong informants in the present survey therewas a wide measure of agreement about theimportant components of training for clini-cians who wish to practise in genetics andwhich are consistent with the roles definedabove. These training components includespecialised clinical experience of patients withgenetic disorders at all ages and additionalgeneral experience of paediatrics, internalmedicine, and perhaps of other specialties.Counselling skills are vital and should be for-mally taught as should the ethical basis ofgenetics. Clinical geneticists require knowl-edge of basic and laboratory genetics and ofrisk estimation. Although local conditions maylimit opportunities, research is widely accep-ted as an essential ingredient of trainingbecause of the flexibility of mind required in

148

on Novem

ber 26, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.30.2.147 on 1 F

ebruary 1993. Dow

nloaded from

The specialty of clinical genetics: European Society of Human Genetics survey

genetics in which new observations are incor-porated into practice with bewildering speed.

A EUROPEAN DIPLOMA IN MEDICALGENETICS?About half of all respondents in EC and innon-EC countries were 'strongly' in favour ofa diploma and rather more than half believedthat the European Society of Human Geneticsshould take an initiative in its organisation.

RecommendationsThese findings show inadequate and inconsis-tent provision for clinical genetics in Europe,while little is known in Europe generally of theservices and training available for laboratorygenetics. The ESHG Board therefore recom-mended the following.4(1) The creation of an expanded Working

Party to include additional clinical, mo-lecular, and cytogenetic members whosetask it will be to discuss the role of special-ist medical geneticists and their trainingwith the possible establishment of com-mon European diplomas in medical gen-etics.

(2) The following terms of reference. Toestablish and keep up to date a database ofclinical and laboratory genetic services andtraining in Europe and adjoining coun-tries. To make recommendations to ECand national governments to achieve offi-cial recognition and resources.

From the UK viewpoint, and from that ofcertain other states, on the eve of 1993 and theextension of the Common Market in jobs,there is a worryingly wide discrepancy in sta-tus and training of clinical geneticists. Thediscussions now going on in ESHG on the roleand training of specialist clinical geneticists areof particular interest and it is hoped that othercountries will emulate Germany, the Nether-lands, Portugal, and UK in giving officialrecognition to medical genetics and definingthe specialist qualifications which distinguishclinical geneticists from paediatricians andother clinicians on one hand and non-medicalscientists on the other. A majority of countriesappear to favour common European diplomasin medical genetics and, although these mightbe less popular where training is already wellorganised, there may be overall benefits inestablishing common training recommenda-tions for Europe.

We are grateful to Professor Peter Harper andto Dr A W Johnston for helpful discussions, toProfessor Martinus Niermeijer for pre-pilot-ing the questionnaire, and to the followingrespondents for their information: ProfessorsAula (Finland), Basopoulos-Kyrkanidou(Greece), Berg (Norway), Connor (UK), Czei-zel (Hungary), Fellous (France), Fryns (Bel-gium), Ginter (Russia), Harper (UK), Haugh-ton (Ireland), Kucerova (Czech Republic),Legum (Israel), Mattei (France), Maximillian(Romania), Mikkelsen (Denmark), Muller(Switzerland), Niermeijer (Netherlands), Olah

(Hungary), Passarge (Germany), Romeo(Italy), San Roman (Spain), Schmid (Switzer-land), Schnedl (Austria), Tavares (Portugal),Temtamy (Egypt), Wahlstrom (Sweden).

1 Clinical genetic services in 1990 and beyond. A report of theClinical Genetics Committee of the Royal College of Phys-icians. London: Royal College of Physicians, 1991.

2 Harris R. Medical genetics. BMJ 1991;303:977-9.3 Role and training of clinical geneticists. Report of the Clinical

Genetics Society Working Party. Suppl 5. London: Eu-genics Society, 1983.

4 Recommendations of the Board of the European Society ofHuman Genetics on manpower and training in medicalgenetics. Eur J Hum Genet (in press).

Appendix Comments regarding clinical genetics receivedduring 1992 European Society of Human Genetics Sur-vey.

A European Community

BELGIUM (PROFESSOR J P FRYNS). The Belgian Ministryof Health has not given formal recognition to thespecialty although there are eight centres of medicalgenetics in each of which two or three full time special-ists are active (mostly paediatricians, a few internistsand clinical biologists). In addition each centre has oneor more nurses with a special interest in genetics,together with non-medical specialists. There are nospecific training posts or training in clinical genetics.Professor Fryns believes that it will be difficult toestablish a common European Diploma as the situationis so different from country to country.

DENMARK (PROFESSOR MARGARETA MIKKELSEN). Clini-cal genetics is not yet recognised as a speciality butnegotiations are now in progress which may be success-ful in two or three years time. Training is recognised tobe inadequate, there are too few trainees, and man-power is a big problem with staffing of universities cutevery year and no new positions becoming available.The Ministry of Health is responsible for reviewingmanpower in clinical genetics although the head of thedepartment chooses candidates for the speciality ofclinical genetics.

FRANCE (PROFESSORS J F MATTEI ANDM FELLOUS). Thespeciality of clinical genetics is not recognised, there arevery few training supervisors, and too few centres fortraining. However, negotiations for accreditation arecurrently taking place and a report has recently beensent to the Minister of Health to show the need formedical genetics as a special qualification. The presentsituation is that geneticists are either clinicians, usuallypaediatricians, but may also be biologists, biochemists,or molecular biologists, and even non-medical researchworkers.

GERMANY (PROFESSOR E PASSARGE). The specialty ofclinical genetics has recently (May 1992) been formallyrecognised. Training is not adequate (currently onlytwo years). A longer period of training (five years) isplanned from 1992/3 and negotiations are taking placeto expand the whole field of genetics.

GREECE (ASSISTANT PROFESSOR EUTERPE BASOPOULOS-KYRKANIDOU). Clinical genetics is not recognised as aspecialty and medical genetics is practised by scientistswho have received most of their training as fellows orpostgraduate students in other countries, mainly theUSA or Great Britain. The Hellenic Association ofMedical Genetics is currently working on a proposal fororganising medical genetics centres throughout thecountry to include clinical geneticists. Professor Baso-poulos-Kyrkanidou believes that European Com-munity level action is required.IRELAND (PROFESSOR JIM HAUGHTON). There are noformally organised genetic counselling services andthere is no accreditation separate from the UnitedKingdom. A Ministry of Health working party in 1988recommended the establishment of three specialistclinical genetic counselling services in Dublin, Cork,and Galway to provide a comprehensive genetic ser-vice.

149

on Novem

ber 26, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.30.2.147 on 1 F

ebruary 1993. Dow

nloaded from

Harris, Rhind

ITALY (PROFESSOR GIOVANNI ROMEO). Clinical geneticsis not officially recognised and there is no effectiveorganisation responsible for training programmes. Anational body for all universities approves all courses

and being a university professor entitles you to bedirector of a School of Specialisation for Medical Gen-etics; thus a professor of biology can be director ofmedical genetics. There are about 100 persons in train-

ing, of whom approximately 30 to 40 are medicaldoctors or biologists. It is hoped that EC regulationsmay improve the situation as the existing trainingarrangements for clinical genetics are 'useless'. Profes-sor Romeo strongly supports the idea of a EuropeanDiploma to help establish clinical genetics in each

country: this could be organised by a European Board

along the same lines as in the USA.

LUXEMBOURG. We have no information on clinical gen-etics in Luxembourg.

NETHERLANDS (PROFESSOR M F NIERMEIJER). Clinical

genetics was established as a specialty in 1987. Accredi-

tation is by the Dutch Board of Medical Specialists,Board of Clinical Genetics, Dutch Association of Clini-

cal Genetics which allocates the number of specialistswithin the current eight clinical genetic services. There

is currently a total of 34 specialists in clinical genetics.In each service staff are organised for pre- and postnatalchromosome analysis (at least one clinical geneticist andone cytogeneticist), genetic counselling (including staff

for psychosocial follow up), metabolic disease, and

DNA studies. After qualifying in medicine and in

addition to specialist training in clinical genetics,trainees are expected to obtain experience in diagnosticmethods relevant to the study of genetic diseases in

paediatrics, etc. Appointments are made by universitycommittees and the clinical genetic service must be

associated with a university hospital. The quality of

training is assessed by a visiting committee of the Board

of Clinical Genetics, by whom training and accredi-

tation are closely monitored. Because the Dutch systemis working well Professor Niermeijer does not support a

European diploma although he believes that clinical

genetics training in the Netherlands should be

expanded with more emphasis on disorders of adult-

hood, screening programmes, and method of publicinformation.

PORTUGAL (PROFESSOR AMANDIO TAVARES). Formal

accreditation for clinical genetics was established in

1979 and is regulated by the Ordem dos Medicos,Lisbon. Selection of specialists is by a national commit-

tee appointed by each hospital. There are currently 38

persons accredited and approximately 15 genetic nurses

and 30 laboratory scientists in the country. Before

entering clinical genetics training, persons must have

completed a two year residency (medicine, surgery,paediatrics, or obstetrics) but any other specialty maybe considered suitable if this fits in with individual

training needs. Accreditation is not dependent on a

final examination and can be obtained after a prescribedlength of training for specialisation consisting of two

years full time with a third year part time. The super-visor must be a consultant and the main emphasis of

training is clinical genetics and family counselling.Three hundred patients must be personally observed

and followed under the supervision of a tutor. These

patients must include 'diverse pathology'. It is desir-

able that trainees spend up to 12 months abroad, at an

institution chosen by the tutor. The Committee for

Genetics of the Ordem dos Medicos verifies the qualityof the training. There are currently four trainees in the

country. In spite of these clear training requirements,Professor Tavares reports that training arrangements in

Portugal are inadequate owing to a deficiency in labora-

tory facilities and the small number of clinical geneticsunits. He moderately supports the idea of an ESHG

diploma, but only after general issues of Europeandiplomas have been fully discussed.

SPAIN (DR SAN ROMAN). The speciality of clinical

genetics is not recognised and there is no formal train-

ing programme. Dr San Roman strongly supports the

establishment of a European Diploma in clinical gen-

etics as a way to obtain recognition in each country ofthe speciality of clinical genetics.UNITED KINGDOM (PROFESSORS P S HARPER AND JMCONNOR). The specialty has been recognised for more

than 10 years. Training post numbers are allocated by a

joint planning advisory committee (JPAC) of the De-partment of Health, Medical Research Council, anduniversities based on the anticipated number of special-ist posts becoming available each year owing to retire-ments and new posts. The number of new specialistposts is decided by availability of local funding al-though overall national targets thought desirable (cur-rently two per million of population) are based on

recommendations of the Royal College of Physicians ofLondon (RCP). The appointment of individual special-ists to permanent ('consultant') posts is by local com-

mittee with representation from hospital, university,general management, and the RCP. Training includesgeneral professional training (three years) which iscomparable in intensity to that received by paediatri-cians, internists, etc, before beginning higher specialisttraining (generally four years) in clinical genetics. Thismust include a period in one of the 18 approved centreswhich have at least two consultant clinical geneticists.These centres are regularly inspected to verify thequality of training. In Britain a general postgraduateclinical examination (membership of a Royal College) istaken at the beginning of genetic training and there is no'exit' diploma to signal completion of training. Accredi-tation may be applied for at the end of training but isnot essential for appointment to a permanent specialistappointment; the quality of the appointees is the re-

sponsibility of the appointment committees who, at thetime of interview, rigorously evaluate the trainingreceived.

B Non-EC countries

AUSTRIA (PROFESSOR W SCHNEDL). Clinical genetics isofficially recognised and accreditation is supervised bythe Osterreichische Arztekammar. Although accredi-tation does not depend on a final examination, a personis eligible to become a specialist immediately afterobtaining a diploma and following a prescribed periodof training in clinical genetics. Legislation to improveall medical training is currently in preparation and thiswill probably affect the training of clinical geneticists.At present, trainees in clinical genetics must havecompleted training in obstetrics, dermatology, internalmedicine, paediatrics, or neurology/psychiatry. Thus,the diploma of a specialised clinical geneticist can onlybe obtained in addition to a diploma in one of thesespecialities. The specialist training in clinical geneticsconsists of two years of theoretical and laboratoryeducation and one year of clinical experience, threeyears in total. There are no limits on the number ofspecialists and there are currently four accredited.There are currently 10 enrolled trainees in clinicalgenetics and nine trained supervisors. There are threeapproved training centres in Wien, Graz, and Inns-bruck. Professor Schnedl would strongly support a

European diploma organised by the ESHG.

CZECH REPUBLIC (PROFESSOR M KUCEROVA). Clinicalgenetics is officially recognised. Specialists are allocatedand monitored by Post-Graduate Institute Chairman ofGenetics. Numbers are determined on the basis of onegeneticist per 1 million inhabitants. Some of the com-

ponents of training are covered in earlier medical train-ing followed by three years' specialist training in clini-cal genetics. Trainees are assessed by a committeeand by examination with the award of a diploma. DrKucerova feels that the Czechs must "catch up with thelevel of European countries" and she is moderatelysupportive of a European diploma if it would help withlack of resources. She would accept a consensus infavour of this being arranged by ESHG with theagreement of the Czech Ministry of Health.

EGYPT (PROFESSOR S TEMTAMY). The speciality is "notyet well accredited", as a person is eligible to seekaccreditation after obtaining a PhD and there are no

150

on Novem

ber 26, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.30.2.147 on 1 F

ebruary 1993. Dow

nloaded from

The specialty of clinical genetics: European Society of Human Genetics survey

limits on the number of specialists. However, there arecurrently only two accredited persons, one PhD andone MD. The department in which the specialist willwork is responsible for selection in consultation withthe department in which the person was registered fortraining. The system is controlled by a governmentcommittee through the National Research Centre. Can-didates from the National Research Centre are gradu-ates of medical or dental schools or of the faculty ofscience. Professor Temtamy in the Al Shams Univer-sity closely supervises trainees in clinical genetics forpatient evaluation, investigations, and counselling andthe training programme for clinical geneticists is takenin common with paediatrics. The recommended train-ing programme consists of two years of basic courses inthe university, with attendance on clinical rounds in thewards and clinics of the university hospitals and in thegenetics clinics. In addition, a two year Masters thesisand a three to four year PhD thesis are prepared. Thismay total 11 years of training. The university in whichregistration is done approves the training programme.The quality of training is assessed by examinations,clinical, oral, and written, and a review of techniques.However, Professor Temtamy reports that trainingarrangements are not standardised and it is possible tobecome accredited without adequate clinical experienceand the appropriate roles of clinical and non-clinicalgeneticists may not be distinguished. Training super-visors do not haveformal training or degrees in clinicalgenetics and do not need to be approved. Althoughmedical geneticists do not have uniform backgroundand training, Professor Temtamy stresses that each hasa valuable role in a team. Professor Temtamy supportsthe idea of a genetic education task group for Europeand the Middle East and strongly supports a Europeandiploma. She suggests that courses might be organisedby ESHG with a well defined syllabus, textbooks, andvideo tapes illustrating techniques, to be distributed toappropriate institutes affiliated with approved foreigncentres. She also recommends continuing educationcourses for staff to update their knowledge.

FINLAND (PROFESSOR P AULA). Medical genetics wasestablished in 1981, and since 1986 all medical speciali-sations have been carried out by the medical faculties ofthe universities although there are currently only 13clinical geneticists. Three medical schools (Helsinki,Turku, and Oulu) have a medical genetics specialistcurriculum. There are a limited number of trainingpositions (currently five). Training consists of one yearpre-training in any of the major clinical fields (paedia-trics, obstetrics, internal medicine), two years workingin the clinical genetics unit (genetic counselling, dia-gnostic consultations, prenatal diagnosis), and twoyears' laboratory work performing chromosome studiesand DNA diagnostics.

HUNGARY (PROFESSORs E OLAH AND A CZEIZEL). Thespecialty is not officially recognised, the education ofspecialists is not well organised, and much improve-ment is needed in the graduate and postgraduate train-ing systems. Hungary does have a form of accreditationby the postgraduate training university in Debrecenand there is a total of six approved training centres withcurrently 25 persons working as clinical geneticists anda few experts qualified in special fields of clinicalgenetics, namely dysmorphology, genetic counselling,tumour cytogenetics, and prenatal diagnosis. Personsneed several years' experience with publication activityand, following the department's recommendation, twoexperts give their opinion, which if satisfactory leads tothe postgraduate training university awarding the qua-lification, which is not restricted to medical doctors.According to Professor Dr Czeizel this does not consti-tute specialisation for clinical geneticists or medicalgeneticists. Hungary needs specialisation for medicalgeneticists (mainly for work in genetic counsellingclinics and in patient clinics). An ESHG Europeandiploma would be strongly supported to "achieve aninternational professional level in genetic research andin education".

ISRAEL (PROFESSOR C LEGUM). The specialty is officiallyrecognised and accreditation is the responsibility of theIsrael Medical Association Medical Council. Assess-ment is based on a final examination prepared by aneducation committee of 'geneticists internists'. There isa total of five recognised training centres. There is aprerequisite for specialisation in paediatrics, obstetrics,or internal medicine. There are no limits on specialistnumbers and at present there are 17 accredited clinicalgeneticists. Individual hospital committees appointspecialists from among candidates who have respondedto advertisements of posts in the public letter of theIsrael Medical Association. This association also super-vises standards and is responsible for the examinations.There are currently two doctors enrolled as traineeswithin Israel. The recommended components of train-ing in clinical genetics are six months of clinical gen-etics, six months of laboratory work, and one yearoptional, that is, a minimum of two years. The trainingsupervisors are the heads of the five recognised trainingcentres. Criteria for recognition of centres include arequirement for the following minimum activity levels:200 consultations per year including prenatal diagnosis,200 prenatal laboratory (amniocentesis and CVS) testsper year, 200 biochemical genetical tests per year (forexample, AFP/ACHE), and the provision of a nationalmolecular genetic service for at least one disease (forexample, haemophilia, Duchenne). Assessment formedically qualified geneticists is by a written examina-tion and all recognised centres are monitored by acommittee appointed by the Israel Medical Associ-ation. There are sub-specialties including cytogenetics,molecular genetics, and genetic counselling whichinvolve medical doctors, those with PhD, and others.These are recognised by the Department of Health andthe medical school department of genetics whichprovide complementary university based trainingprogrammes. The training period and candidacy aremonitored by the Israel Medical Association for medi-cal graduates and by the separate medical schools fornon-medical personnel. The Department of Healthcertifies both medical and non-medical geneticists afterhaving received their respective university recogni-tions. The Government certification amounts to licens-ing in order to deal with the public. In general Profes-sor Legum believes that training is adequate withinIsrael with the exception of genetic counselling. Hemoderately supports the concept of a European dip-loma, but "we would prefer European recognition ofIsrael's licensing for purposes of postgraduate study inEurope".

NORWAY (PROFESSOR KARE BERG). Medical genetics hasbeen a certified specialisation since 1971. There is atotal of 23 clinical geneticists currently accredited. Allspecialist posts are associated with one of the threeregional centres. Appointments are made by the hos-pital in which the regional centre is located followingrecommendations made by the centre. There is aninternational training committee in each centre refer-ring to an outside board in medical genetics set up bythe Norwegian Medical Association. The training re-quirement is four years in clinical genetics and oneadditional 'side year' making five years in total. Basicgenetics is strongly recommended. The candidates at-tend a series of lectures and after one year they areencouraged to take part in group teaching of medicalstudents. Cytogenetics is obligatory for one year. It isconsidered 'desirable' to have a year in moleculargenetics, and this is shortly to become obligatory. Mostcandidates spend three years in very active geneticcounselling. Research cannot be made obligatory fortraining for specialisation in Norway. Participation intraining courses is obligatory and paid for by fundsbelonging to the Norwegian Medical Association.Supervision is the responsibility of a certified specialistwith at least five years training in the subject. Allspecialists in permanent posts in any of the threeregional centres are eligible as supervisors. At presentthere are nine senior experts acting as supervisors; eachhas two trainees, according to general rules. ProfessorBerg notes that the criteria which must be met by

151

on Novem

ber 26, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.30.2.147 on 1 F

ebruary 1993. Dow

nloaded from

Harris, Rhind

institutions at which training takes place are not suffi-ciently firm and, for example, there may be only arestricted range of genetic patients and insufficientuniversity contact. He believes that training should bestrictly limited to centres with an adequate number andspectrum of genetic diseases. There should also be arequirement to undertake research and there should bean examination towards the end of training. ProfessorBerg does not support a common European diplomarecommending that this should be organised on aregional basis, pooling countries with similar systemsand practices such as the Scandinavian countries, andthis would apply with particular force to WesternEuropean countries and previous Iron Curtain coun-tries.ROMANIA (DR MAXIMILLIAN). Clinical genetics is notofficially recognised as a speciality and at present train-ing is limited to short courses on medical genetics forpaediatricians and obstetricians. Paradoxically there is adoctoral programme in medical genetics, but this doesnot necessarily mean that students will work in auniversity clinic. There are plans to introduce a clinicalgenetics course at the Faculty of Medicine at theEcologic University in 1994. Clinical cytogenetics anddysmorphology are of considerable interest but as withall aspects of clinical genetics the lack of a recognisedspeciality and facilities is inhibiting. Informationsources in Romania are rare and medical journals arenot generally available. There is a great need to estab-lish contacts with other genetic centres and to meet eachother. Romania is beginning to establish links withBelgium and France. The establishment of a Europeandiploma would be strongly supported owing to theshortcomings in Romania and the rate of expansion ofgenetic medicine.RussIA (DR E K GINTER, Moscow). There is no formalrecognition of specialists in clinical genetics, althoughan examination must be taken to become a specialist, ofwhom there are approximately 200 at present. Thereare approximately 20 to 25 persons enrolled as traineesin clinical genetics in the country. Training for speciali-sation takes two years consisting of six months' obliga-tory basic theoretical genetics, one year's obligatorypaediatrics, and six months' obligatory specific coun-selling training. Other components such as cytogene-tics, biochemical genetics, research, and the use ofcomputer diagnostic programs are considered desir-able. The training supervisor usually has more than 10years' experience within clinical genetics and there areapproximately seven to eight training supervisorswithin the country. There are six approved training

centres within Russia. There are three sub-specialitiesrelated to clinical genetics. These are recognised by theprogramme of training and subsequent appointment torelevant posts. Dr Ginter notes that the main problemwith training arrangements is that there is no connec-tion between training of specialists in clinical geneticsand the practice of genetic counselling because there aretwo types of training in clinical genetics. The first,which has been described above, is proposed forspecialists who will work in the institutes, hospitals,and clinics. The second is for specialists who areworking in genetic counselling. Usually the latter haveexperience and were trained in paediatrics or obstetricsand gynaecology. For these doctors there is a specialprogramme of training in the fields of hereditary patho-logy and genetic counselling. The duration of thecourse is three months and after an examination thephysician receives a special certificate as a medicalgeneticist. This course is repeated every five years foreach specialist. Dr Ginter moderately supports theconcept of a European diploma organised by theESHG. He would prefer for Russia that a diploma beorganised by the Institute of Clinical Genetics, Na-tional Research Centre of Medical Genetics, RussianAcademy of Medical Sciences.

SWEDEN (DR J WAHLSTROM). The specialty is recog-nised. Although there is a postgraduate examination inclinical genetics, this is not compulsory. Most trainingin clinical genetics is in house within the departmentand there are no formal means for verifying the qualityof training. It is recognised that there is a need forimproved training courses accredited by the NationalSwedish Social Welfare Board with whom this is cur-rently being discussed.

SWITZERLAND (DR MULLER AND PROFESSORW SCHMID).Although clinical genetics is not yet formally recog-nised, specialist posts are available at five universitiesand application was made at the end of 1991 to establishan accreditation system. In the meantime the SwissSociety of Medical Genetics supervises training pro-grammes with currently 10 specialists in clinical gen-etics accepted by the society nationally. At least fouryears are devoted to medical genetics training and afurther one year in another specialty, generally internalmedicine or paediatrics. Trainees are recommended tospend time abroad but only in centres which fulfil thecriteria for a medical genetic centre. Appointment tospecialist posts is the prerogative of each institution. AEuropean diploma would be welcome to provide acommon standard organised by the Council of Europe.

152

on Novem

ber 26, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.30.2.147 on 1 F

ebruary 1993. Dow

nloaded from