Country Background: Demography, Geography and History

Geographically Austria can be divided into a lowland area around the Danube river, and the Alpine regions. The lowland area includes parts of Salzburg, Upper Austria, Lower Austria, Vienna, Styria and Burgenland and is a very ancient area of settlement in Europe. The Alpine regions include parts of Vorarlberg, all the Tyrol, large parts of Salzburg, Carinthia and Styria. These regions contain many (until recently) secluded valleys which presumably represented genetic isolates and where founder effects have played an important role, although there have been no genetic studies. On the other hand, some of those regions have been routes of migration since ancient times on (e.g. the Brenner pass which was used by the Romans and before).

The total population is 7.8 million and the majority of present-day Austrians are German speaking and ethnically most closely related to Germans. Those with Austrian citizenship number 7.28 million and those with non-Austrian citizenship, 0.52 million. There are, however, notable ethnic minorities, in particular in Burgenland (Croatians, Roma, Hungarians) in Carinthia/Styria (Slovenians) and in Vienna (Czechs, Slovaks, Poles). Vienna is ethnically the most heterogeneous city/state in Austria with continuous immigration from the different ethnic groups of the Danube Monarchy, especially from Bohemia, Hungary and until recently from the Balkan states. Around the year 1900 about 200,000 Czechs and Slovaks lived in Vienna and most of these have been assimilated. There are also so-called ‘guest-workers’ who are mainly from the former Yugoslavia and Turkey. To summarise, Austria has both genetically very ‘open’ areas like Vienna, the Danube valley and some routes through the Alps, and genetic isolates including many Alpine valleys. The following numbers (from the Österreichisches Statistisches Zentralamt, Volkszählung, May 15, 1991) refer to language groups: German (7,190,000), Croatian (60,000), Slovenian (30,000), Czech (20,000), Hungarian (34,000), Serbo-Croat (158,000), Turkish (120,000), Windisch (903) and others (18,000).

Type of Health Care System

Health care is based on a comprehensive system of social insurance which covers 99% of the population (including genetic services). However, for some specific services, and for those performed outside the country, the agreement of the chief physician of the insurance body is needed before the test can be done. In 1991, health care accounted for 8.4% of GDP.

History of Medical Genetics

Austria shares a history with Germany of Nazi eugenics and everything related to it. This has had profound effects on the development of clinical genetics. The history of chairs of anthropology (and also psychiatry) was very similar to German counterparts. As a consequence, Austria was for a long time separated from modern developments in human genetics and the consequences were even more rigorous than in Germany, so that departments of human genetics were not established in Austria after 1945 at any university. Departments of ‘medical biology and genetics’ developed into de facto institutes of human genetics.

Dimension 1: Availability

Diagnosis of the following disorders cannot be made in molecular genetics laboratories in Austria: Friedreich ataxia, malignant hyperthermia, Marfan, phenylketonuria, polycystic kidney disease, polyposis coli, retinitis pigmentosa or any other genetic eye disease, and several rare genetic disorders.

Medical Geneticists per Million Population

The definition of ‘medical geneticist’ is unclear. According to the Chamber of Physicians registry, there are 12 physicians in Austria who have qualified in the subspecialty of ‘Human Genetics’; 5 of these are gynaecologists involved in prenatal diagnosis and are not in general medical genetics. I estimate that there are 12–15 trained medical geneticists in Austria, which represents about 2 medical geneticists per million population. Training in human genetics officially began in 1994 but in Austrian law, qualifications in subspecialties can be decided by local governments; these are then certified by the respective local chamber of physicians. Officially, medical genetics has not existed in the three Austrian universities with medical faculties (Vienna, Innsbruck, Graz) either in undergraduate teaching or in postgraduate education. No appointments have been made for training medical geneticists in any of the major centres despite repeated applications to the Ministry of Health and Consumer Protection over the last 8 years and there appears to be strong opposition in the Ministry against medical genetics as an independent speciality.

Recognition as a Speciality

Since 1994, medical genetics (Human Genetics) has been recognised as a subspecialty although some individuals were appointed as ‘Human Geneticists’ before this date under arcane local rules (see above). It is now possible for the following to acquire the subspeciality by completing a 3-year programme: physicians specialised in gynaecology, dermatology, histology and embryology, hygiene and microbiology, internal medicine, paediatrics, medical biology, laboratory medicine, neurology, pathology, and psychiatry.

National Network of Genetic Centres

It is difficult to obtain information on genetic services in Austria and no information on genetic services was available from the Ministry of Women’s Affairs and Consumer Protection, from the social insurance organisations or from any other official sources. There appears to be no co-ordination whatever by the government and only on September 6, 1996 was the Austrian Society for Human Genetics founded with the intention of remedying this defect. There is at present no organised network or regional organisation of genetic services.

Under One Roof (Combined Clinical and Laboratory Service)

There are to my knowledge only two (Graz and Innsbruck) true medical genetic centres in Austria which have under-one-roof counselling, dysmorphology/syndrome recognition, DNA diagnosis, pre- and postnatal cytogenetic diagnostic facilities and molecular cytogenetics. Other under-one-roof services exist for some special areas/disorders e.g. prenatal cytogenetic diagnosis, familial breast/ovarian cancer (see below). After finishing this chapter, an information brochure from the University Hospital Vienna (Allgemeines Krankenhaus, AKH) appeared which lists 23 genetic counselling units at the AKH. Counselling is provided for 140 diagnoses including entities like ‘dysmorphic syndromes’.

Genetic Nurses/Genetic Associates

The term ‘genetic nurses’ and the education of nurses in medical genetics do not exist in Austria. There are technicians working in genetic departments but these are trained at the centre in the respective techniques (but not in any broader sense).

Genetic Family Registers

There are no genetic registers in Austria.

Special Cytogenetic Techniques

FISH tests are available in the major centres. The major centres in Innsbruck and Graz perform chromosomal painting, microdissection and CGH (Innsbruck). Specific FISH tests are available for Prader-Willi syndrome/Angelman syndrome, Williams-Beuren, Miller-Dieker, and syndromes with microdeletions of chromosome 22 (CATCH-22) and any other on request. In Vienna, some of these tests are performed at the Institute for Medical Biology and at the St. Anna Children’s Hospital.

Molecular Diagnosis Available in Major Centres

The following are available at the Institutes for Medical Biology and Human Genetics Innsbruck and/or Graz: cystic fibrosis, Fra X-A, Huntington disease, SCA-1, SCA-3, CMTIA, HNPP, familial hyperlipidaemias, familial breast cancer (BRCA-1), HMSH2, hMLHl, APC Resistance (Factor V Leiden), PWS/AS, Duchenne/Becker muscular dystrophy, haemophilia A and B, adrenoleucodystrophy, Alzheimer disease, (Apo E, APP mutations), achondroplasia/hypochondroplasia, craniosynostosis (FGFR 1, 2 and 3 mutations), and several others on request.

The following diagnosis are available also or exclusively at one of several centres specialising in single disorders: CF, HD, thalassemias, myotonic dystrophy, metachromatic leucodystrophy, adrenoleucodystrophy, Duchenne/Becker muscular dystrophy, Li Fraumeni syndrome, MEN 2A/MEN 2B, Factor V Leiden, Wilson disease, haemochromatosis, haemophilias A and B, protein S deficiency, alpha-1-antitrypsin deficiency, mucopolysaccharidosis type IV B, complement deficiencies, galactosaemia, BRCA-1, BRCA-2, protein C deficiency, Factor X deficiency, Hirschsprung disease. The diagnosis of NF-1 (by protein truncation test) is available at the Institute for Medical Biology, Vienna.

Biochemical Genetics Network

There is no biochemical genetics network in Austria.

Population Screening

Routine newborn screening is available for common metabolic disorders (e.g. PKU). There are no population screening programmes for the country at large but local screening, e.g. for cystic fibrosis, exists but without approved programmes.

Dimension 2: Access

Genetic services are generally covered by the Social Health Insurance system and there is full reimbursement for genetic services. However, for many tests (e.g. for rare genetic disorders which are not performed in the country), a request has to be sent to the respective health insurance officer, but generally permission is given. There is no special budget for genetic services and access is limited by lack of genetic knowledge of non-genetic doctors but also by lack of knowledge on the availability of genetic services. Access is also limited by religious barriers to abortion in part of the country (e.g. Tyrol). There are large mountainous areas in Austria which, combined with the lack of genetic service centres in parts of the country, make access difficult for some communities.

Private Genetics Laboratories

Two private cytogenetics laboratories exist in Vienna and certainly more than 50% of cytogenetic tests are performed in private laboratories. However, within institutions like university departments, some genetic services are also performed on private contracts with the public health insurance system. Thus I believe that more than 50% of genetic services in Austria are private.

Dimension 3: Life Sustaining

Infant mortality is about 7.4 per 1, 000 live births, life expectancy for men is 72.6 and for women 79.2.

Dimension 4: State of the Art

There are no published recommendations for teaching genetics to medical students. Recommendations for training medical geneticists are very recent and are not yet effective and they are not expected to be effective as there are no posts for training at the few centres competent to provide such training.

Dimension 5: Non-Harmful

There are no published audit reports concerning medical genetics. In theory, centres have to be approved by the Ministry of Women’s Affairs and Consumer Protection, but to my knowledge no centre has yet been approved and despite three applications over the past 8 years, the centre in Innsbruck has not received approval by the Ministry.

According to the Austrian ‘Gene Technique Law’, laboratories performing predictive DNA tests or DNA tests for identifying carriers of recessive disorders must be accredited by the Ministry of Health and Consumer Protection although laboratories performing similar tests for symptomatic patients e.g. for Huntington disease do not need accreditation. Accreditation is the responsibility of the ‘Scientific Council for Gene Analysis and Gene Therapy of the Gene Technique Commission’. However, criteria for approval have not yet been established. Meanwhile there are an estimated 60 applications pending.

Some aspects of confidentiality and ethics are regulated in the ‘Gene Techniques Law’. There is no disciplinary body and no national Ethical Council.

Dimension 6: Effectiveness

There are no published reports on outcome nor is there any agreement on desired outcome in medical genetics.

Dimension 7: Consumer Satisfaction

There are no regular public debates or surveys of consumer satisfaction with medical genetics.

Publications Related to Genetic Services

No information available.

Austrian Society for Human Genetics

Österreichische Gesellschaft fur Humangenetik

Schopfstrasse 41

A-6020 Innsbruck (Austria)

Tel. +43 512 507 3451

Fax +43 512 2861

Validator

Österreichische Gesellschaft für Humangenetik

Schopfstrasse 41

A-6020 Innsbruck (Austria)

Tel. +43 512 507 3451

Fax +43 512 2861

‘The manuscript … has been approved with the changes made by the Validator (Austrian Society for Human Genetics).’