Introduction

The rapid development of our understanding of molecular genetics has created new possibilities to diagnose genetic disorders. It has also made presymptomatic, carrier and prenatal testing of family members possible in a growing number of disorders. Predictive testing for late onset diseases may be considered upon request of the person at risk. Even more, the rapid development of our understanding of molecular genetics has permitted a better understanding of the pathogenesis of a growing number of diseases and has changed the way in which we think about health and illness. This has increased public awareness of hereditary diseases and consequently the expectations regarding genetic prediction and therapy of genetic diseases. There are an increasing number of families requesting genetic services and more physicians prescribing genetic tests, usually highly specialized and expensive investigations. Simultaneously, there are demands in many European countries to cut down the costs of the public health care. All this has created a situation where professional guidelines for the provision of genetic services are needed.

In 1997, the provision of genetic services in the European countries was evaluated by the Concerted Action on Genetic Services in Europe (CAGSE). This evaluation revealed that the practices, resources as well as traditions in the different countries varied considerably. The need for guidelines was clearly stated in the CAGSE report: ‘collaborators recognized the need for internationally agreed and published principles to help national and regional health departments plan genetic services to act as a service, research and educational resource in each country’.1

The same year, the European Society of Human Genetics (ESHG) nominated a Public and Professional Policy Committee (PPPC) for developing the ESHG's policies on social, ethical, and legal issues of human genetics and the relationships between professional geneticists and the public. The Committee decided to start its work by formulating, professional guidelines in the field of human genetics concerning different topics, one of which was guidelines for the provision of genetic services in Europe.

The present document aims to examine the professional and scientific views on the social, ethical, and legal issues that impact on the provision of genetic services in Europe. For this purpose, many aspects have been considered, such as the definition and the aims of genetic services, their organization, the quality assessment, public education, as well as the partnership with patients support groups, and the multicultural aspects.

Methods

The method used for analyzing the professional and scientific views on the social, ethical, and legal issues that impact the provision of genetic services was primarily the collection and analysis of existing professional guidelines, legal frameworks and other documents related to the organization of genetic services, mainly from Europe, but also from USA and international organizations. Then, with the help of the existing guidelines and a review of literature, the method was to examine the background data emerging from an updated report produced by the Concerted Action on Genetic Services in Europe (CAGSE), as well as the results of discussions held during an international workshop. This workshop was organized by the European Society of Human Genetics Public and Professional Policy Committee in Helsinki, Finland, September 8 and 9, 2000. The purpose of the workshop was to identify, from a professional viewpoint, the most important/pressing/burning ethical issues relating to the provision of genetic services in Europe. The formal workshop presentations covered the following themes: the aims and scope of clinical genetic services, organization and human resources, quality assessment of clinical genetic services, and challenges of present and future clinical genetic services. Small multidisciplinary groups were convened to take these discussions further. Their initial task was to explore the genetic services needs in the countries represented and to consider the extent to which these needs were currently being met. Following the small group sessions, conclusions were fed back to the whole group where there were opportunities for further discussion.

A group of 43 experts from 17 European countries was invited. These experts were representatives of the seven following sectors:

  1. 1)

    Medical Genetics

  2. 2)

    Human Genetics Societies

  3. 3)

    Ethical, Legal, and Social Issues

  4. 4)

    Support Groups

  5. 5)

    Biotechnology/Pharmaceutics

  6. 6)

    Insurance/Employment

  7. 7)

    European Union Institutions

A first background document was discussed during the workshop. A second document, including discussions of the workshop, was sent for comments to representatives of the human genetic societies and European experts in the field of clinical genetic services, as well as to all ESHG members. This document was also put on the ESHG website (www.eshg.org) for public consultation and discussion. The final document was approved by the ESHG board.

National and international regulatory frameworks

To date, within different European countries, regulations on the provision of genetic services are differently organized (see Appendix A). The variety of regulations seems to be due to the fact that genetic testing is often considered directly related to health-care services. However, in a comparative study of 31 countries by the Concerted action on genetic services in Europe, Harris and Reid2 have reported that in European countries where genetics is well established, a legal framework exists within which the services operate. The main recommendations made by the members of the concerted action were included in three principles:

  • Official recognition of the specialty of medical genetics at a national level, and national strategic planning by medical genetics organizations linked to other specialties, to patient support organizations, and to government.

  • Development of regional medical genetic centers as an important point of delivery of specialist genetic care in collaboration with other specialties, community and other medical services.

  • Joint education and training programs to promote the teaching of genetics to medical and other students, and training programs with assessment for specialist geneticists and for other health-care workers.

More recently, the European Society of Human Genetics (2001) recommended a Formal recognition of medical genetics as a medical specialty in Europe in order ‘to aid the provision and development of genetic services for individuals and families in Europe’. WHO2 also recommended different measures for developing and strengthening medical genetics services, as well as to assist member states in establishing educational programs for the teaching of medical genetics.

A number of international bodies have published recommendations about the rights of individuals as they relate to developments in genetics. Examples include the Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine by the Council of Europe;4 the Universal Declaration of the Human Genome and Human Rights by the United Nations Educational, Scientific and Cultural Organization (UNESCO);5 the Proposed International Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetic Services by the World Health Organization (WHO);6 the World Medical Association Declarations (1992, 1995, 2000);88,89,90 OECD7 and the Charter of Fundamental Rights of the European Union (2000). All these texts stipulate that the medical application of genetic knowledge must be carried out with due regard to the general principles of medical ethics: doing good to individuals and families, not doing harm, offering autonomy of choice after information is given, and facilitating personal and social justice.

Issues

Definition and aims of genetic services

‘Identifying indicators of quality, effectiveness or success of genetic services requires definition of the overall aims of clinical genetic services and what constitutes the services’.8

Even though human genetics in many European countries in the first half of the 20th century concentrated to eugenic aims, the goal has since then been to serve the interest of the families with an inherited disorder as clearly phrased by Fraser.9 In the 1980 s, the general objective of genetic services was more precisely defined ‘to help people with a genetic disadvantage to live and reproduce as normally and as responsibly as possible’.10 Nowadays, the aim of a genetic service is often seen as to respond to the needs of individuals and families, particularly their wish to know whether or not they are at risk of developing a genetic disorder or of bearing an affected child. A primary responsibility in genetic counseling is to provide information as accurate as possible on diagnosis and chance of recurrence within the family. The tradition in genetic counseling is to be nondirective. However, it appears also important to maintain a proper balance between professional ‘duty of care’ and personal ‘autonomy’, that can include choosing to leave the decision-making to a professional team that the patient trusts.

The Clinical Genetics Committee of the Royal College of Physicians of London11 defined three objectives of a clinical genetic service: (1) For persons who are affected, or who are referred because of a genetic risk, to make the genetic diagnoses, pedigree analyses and estimates of risk of transmission. These are necessary for genetic counseling and to guide preventive and therapeutic actions; (2) To support the identification and surveillance of relatives who are at risk for serious genetic disorders, but who may not have been directly referred, so that they may receive well-informed genetic counseling and guidance on preventive and therapeutic actions if required; and (3) to provide support to family members, both to those affected and unaffected. The British Clinical Genetics Society (2000) documented in detail the responsibilities of a clinical geneticist. Particular emphasis was placed on follow-up, support, coordination of health surveillance, and services to extended families. As for the Council of Regional Networks for Genetics Services (USA),12 it distinguished three types of genetic services: (1) family-focused services; (2) population-based services; (3) clinical laboratory services.

Clinical genetics has emerged as a specialty in medicine. In fact, a genetic service is a specialized service provided in tertiary centers, accessed by self-referral or referral from consultant physicians and others including general practitioners, for patients and relatives with complex or rare conditions, and serving a wide geographic area. A genetic service is distinguished by the fact that diagnosis, investigations, counseling, and support is given for disorders affecting any organ system or at any age and records are sometimes kindred based and multigenerational, which requires extra-care for data protection. This imposes unique disciplines and requirements on the molecular diagnostic laboratory, which distinguishes it from other categories of clinical laboratory. The family is the unit of study in contrast to the individual. This will remain true even when mutation detection entirely supersedes linkage analysis.13 Furthermore, inheritance across generations and in the extended kindred gives the information generated by the genetic laboratory a lasting relevance. It places on a laboratory a responsibility for long-term and careful storage and retrieval of clinical information.13

Finally, genetic services comprise multidisciplinary groups of medical and nonmedical disciplines such as in clinical setting geneticists, psychologists, genetic counselors, genetic nurses and in laboratory setting biologists, bio-statisticians, specialized technicians, and administrative staff.

Services provided by clinical geneticists

Clinical genetic services generate activities of varying complexity which range from single consultations for diagnosis and genetic counseling to clinical and laboratory investigations of other family members. Clinical genetic services also carry out pre- and postnatal diagnosis and carrier testing, bank DNA and other biological samples, accept inquiries, are committed to education and support community-based services.

Diagnostic consultations

Traditionally genetic services have focused on single gene disorders, chromosomal abnormalities, malformation, and mental retardation syndromes and infertility problems including the provision of laboratory investigations. Much of this work has been linked to obstetric and pediatric practice and to the management of an individually rare but collectively significant group of genetic disorders. In recent years, these services have taken on an increasing workload. The new molecular genetic techniques have simplified some parts of the work (mainly diagnostic) and simultaneously have created new possibilities and new needs. This is particularly true in the area of predictive testing for neurogenetic diseases and hereditary cancers. In fact, even though familial cancers may be a small proportion of the total of cancers, they represent a considerable number by comparison with the rare disorders traditionally seen by clinical geneticists. Many families are now referred because of the possibility that they might fall into a hereditary subset of a common disorder.

As there are of thousands of syndromes and diseases, and as several new ones are described all the time in the medical literature, the only way to offer accurate services is to have experienced clinical geneticists and syndromologists, and to know how to better use specialized databases which help making more clinical diagnoses. Some of them are free of charge on Internet like OMIM (http://www3.ncbi.nlm.nih.gov/Omim/), Geneclinics (http://geneclinics.org/) or Orphanet (http://www.orpha.net). Others are distributed on CD-ROM like LDDB (http://www.hgmp.mrc.ac.uk/DHMHD/lddb.html) or POSSUM (http://www.possum.net.au/). In many countries, public Internet databases in native language are available.

It has been recommended that physicians and other health-care professionals in other clinics caring for these patients should have an easy access to diagnostic consultations.2,14 This could optimally happen so that the clinical geneticist comes to see the patient/family, gives diagnostic suggestions and helps the physician to find recent and reliable information on the disease. Whether or not the diagnosis can, according to this advice, be ascertained, the family should be offered the possibility of genetic counseling.

If the accessibility to a genetic service is not available, another option that is proposed is the organization of consultations through regular or electronic mails: the physician may send data, photographs of the diagnostically problematic case to a clinical genetic unit in his/her own country or elsewhere.15 In the future, expert centers may offer teleconsultation for a quick opinion or in case of a long-distance consultation. Teleconsultation may also be used for a second opinion between two professionals. It has been suggested that answering such inquiries should be an accepted part of the work load of clinical genetic units, ample time should be appointed to this work and this work should be considered for staffing and funding.16

Information and counseling

The provision of genetic counseling is a defining characteristic of clinical genetic services. Genetic counseling has been defined as a communication process, which deals with the human and psychological problems associated with the occurrence, or risk of occurrence, of a genetic disorder in the family.9 This process involves an attempt by one or more appropriately trained persons to help the individual or the family to (1) understand the medical facts, including the diagnosis, the probable course of the disorder and the available management; (2) appreciate how heredity contributes to the disorder and the risk of recurrence in specified relatives; (3) understand the options for dealing with the risk of recurrence; (4) choose the course of action which seems appropriate to them in view of their risk and their family goals and act in accordance with that decision; and (5) make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.9 This definition covers all types of genetic counseling,17 as well as the counseling offered in the context of a multidisciplinary approach to predictive testing involving professionals from psychosocial disciplines.18

Many policy statements state that genetic counseling should be available to all, in particular to families with rare hereditary diseases as well as their close relatives. Families with common hereditary diseases, common malformations, and multifactorial diseases should also be offered genetic counseling services or counseled by other medical specialists. Some authors consider that much of the counseling of common problems like increased risk of chromosomal anomalies or preliminary evaluation of the possibility of hereditary cancer in a family, could be performed by specifically trained non-MD health-care providers or nongenetic specialist MDs outside genetic centers.16

It is generally agreed that families should decide themselves whether they want to be counseled or not and have free choice on where to go for the genetic counseling (eg, some families may not want to discuss these issues in the same hospital where they are treated for the disease).19 Traditionally, confidentiality has been and should continue to be one of the principles on which the relationship between patients and physicians is built. However, the arrival of medical genetics is likely to affect the way in which this principle is interpreted and how it operates within best clinical practice. Medical genetics is often concerned with patients in relation to their families and counseled patients may be asked to share the result of their genetic test with family members. It has been recommended that physicians should endeavor to explain to patients that sharing this genetic information is in everyone's best interests.20 If such a strategy fails, it might be necessary in the future to evolve new professional protocols in which confidentiality may be guaranteed to families rather than individuals because of the ‘familial’ character of genetic diseases.16

With new genetic knowledge, the information received in genetic counseling will soon be outdated in some situations. Although the ‘duty of recontact’ is not part of standard care, some consider that responsibility for staying in contact should be shared between health professionals and patients.21 For practical reasons, the genetic counseling centers cannot always fulfill such a duty to recontact when new, important information emerges. Instead, all families might be encouraged to contact the genetic counseling unit and ask about possible new information whenever they feel the need of updating their knowledge (for instance, before engaging in a new pregnancy).

Genetic counseling must be based on up-to-date knowledge of the disease, and the genetic counselors must have the required capacities to help families to make decisions and to make the best adjustment to their situation.22,23 Some authors add that counseling should preferably be available in the individual's own language or, alternatively, interpreters should be used.24 Also, in case of complicated or detailed data, information should always be given in a written form. Nondirectiveness should be emphasized.25

In addition to genetic counseling and information given during a personal contact between the counselor and the client, other ways of distributing information to patients and families can be used. These include books, leaflets, videos and websites, and telemedicine approaches. Patients and families can also be informed of existing patient support groups relevant to their problem.

Counseling may appear expensive, as it is time consuming. In addition, genetic tests for rare disorders may, at present, be very expensive. However, as an individual or a family does not need genetic services often, the total cost may not become very high. Genetic counseling can save money as it may help to find the correct diagnosis and stop other diagnostic investigations, it may give information for the family which helps them to cope with the situation, as it may help the physician to treat the disease more adequately.

Prenatal diagnosis

As ultrasonographic assessment of embryos and fetuses is becoming a common practice, clinical genetics is now closely associated with the interpretation of antenatal findings, which may reflect a genetic disease, or a severe defect of another origin. Being available for this is part of the duty of care of genetic centers.

Prenatal diagnostic services are offered to families in which there is an increased risk of a disease that can be detected before birth. Again, it is recommended that prenatal diagnostic tests in families with an increased risk of a disease should always be preceded by appropriate genetic counseling and preferably before engaging in a new pregnancy, as well as with sufficient attention for other options like remaining childless, adoption, artificial insemination using donated gametes26 or the acceptance of having a child with a genetic disorder.27 Free choice is also emphasized.28 In addition, policy statements stipulate that the risks and uncertainties of prenatal diagnosis should be discussed with the parents. The prenatal tests must be performed at the appropriate gestational age so that, according to the local legislation on terminating pregnancies, there is enough time for the parents for reaching a decision about the ongoing pregnancy. If the disease is diagnosed prenatally, the family still has free choice either to continue the pregnancy or to terminate it. If the family chooses not to use prenatal diagnostic possibilities, the follow-up of the pregnancy and care for the newborn must happen according to their choices.

In many countries there is a systematic risk assessment for aneuploidy based on maternal age. It has been argued that the concept of risk assessment solely based on maternal age should be complemented by a more integral risk screening concept based on nuchal translucency, ultrasound in general, and maternal serum markers which are already used in many countries.29 In some countries, all mothers-to-be regardless of their age, are informed about risk assessment for aneuploidy.

Cascade carrier testing

Cascade carrier testing, that is, testing along family lines starting from an index case, involves the diagnosis of an affected individual followed by the systematic identification and testing of relatives. However, information of relatives in cascade testing is difficult. Even if the disease is known in the family, information on the genetic risk may only be disseminated to a minority of those relatives at risk, or relatives may refuse to be tested. Using individuals within families to initiate the contacts with distant relatives, which is necessary when cascading goes further than about the first cousin level, is an activity that is likely to make genetic counselors unpopular in the community.30 There are many problems associated with letting patients inform relatives, for example, the quality of the information, and the lack of certainty that all relatives are informed.

As for the other types of testing, it is essential that each tested family member gets information and counseling before the test.31 Also, the result of the test and the explanation of its implications should be given in a written form. Some argue that adolescents might be able to benefit from carrier testing, at their own request, for making reproductive decisions, but carrier testing of children before adolescence should be avoided.32

Presymptomatic and predictive testing

It has been demonstrated that it is in the category of presymptomatic and predictive testing that most of the difficult issues involving genetic testing lie.33 It should be noted that the term ‘presymptomatic testing’ is best reserved for those situations where an abnormal test result will almost inevitably lead to development of the disease at some point in later life, whereas the term ‘predictive testing’ covers a broader range of situations in which the risk of a disorder occurring is substantially increased or reduced, but without necessarily implying any degree of certainty.33

Presymptomatic and predictive testing provide information about the ‘future health status’ of a healthy person; an asymptomatic person with the mutant gene will stay healthy for an unpredictable number of years. The availability of presymptomatic and predictive testing gives informed people the choice ‘to know’ or ‘not to know’, a decision with tremendous consequences.18

Presymptomatic or predictive testing is available for two major categories of diseases: neurogenetic diseases and hereditary cancers. Even if the approach for neurogenetic diseases has been a valuable starting point for predictive testing for hereditary cancers, one should keep in mind important differences between testing for ‘incurable’ neurogenetic diseases and testing for hereditary cancers, for which ‘prevention and treatment’ may be available. Some consider that the approach should be tailored to each specific disease.18 For instance, although the identification of the BRCA genes promises a possible future determination and treatment of women and men who are genetically susceptible to cancer, current data reveal certain dilemmas and uncertainties regarding our ability to interpret the results from testing and offer effective management options.

The psychological complexity of presymptomatic and predictive testing requires careful consideration. Information about genetic risks and results of genetic tests has far reaching implications, not only for the counseled or tested persons' own well being but often for their relatives' future too. Therefore, an adequate and systematic multidisciplinary approach as well as ongoing education of professionals and of the general public has been recommended to avoid pitfalls. Proceeding with care and flexibility is also encouraged.34

Education and training of primary care providers and non-MDs involved in genetic counseling

Although many universities in Europe have gradually improved the official teaching of genetics during the medical schools' courses and during the postgraduate schools' courses, most of the medical geneticists spend a significant proportion of their time on educational initiatives for colleagues or other health professionals. In several countries clinical genetics is officially recognized as a specialty, and many countries have centers where physicians can be trained in clinical genetics. In addition, more and more specialists in different fields of medicine start a training period in a genetics department (or genetic laboratory). This process has been, so far, spontaneous with no official planning and recognizing this activity first at the European level and consequently at the national level appears urgent.

Primary care providers. Scientific advances in genetics point to the need for primary care providers (obstetricians, gynecologists, pediatricians, internists, general practitioners, etc) to develop the necessary skills to assess genetic risk, discuss the implications of genetic testing, and appropriately refer individuals to specialists.13,35,36 Providers of primary care who are poorly informed can have a detrimental effect on the welfare of patients and their families.37 The danger that genetic centers will be submerged beneath a flood of inappropriate referrals also exists.38 The quality of referrals as well as the continuity of care is important. Continuity requires effective means of identifying and following up family members who are at risk. Genetic disorders frequently involve more than one-body system and require multiple investigations in a variety of different specialties, so coordination of clinic visits is essential to avoid unnecessary duplication and major disruption of the patient's life.38

In 1990, a study carried out by the Clinical Genetics Committee of the Royal College of Physicians of London found that primary care providers have had little undergraduate genetic education and are unlikely to have had any systematic postgraduate genetic training.39 Still, 10 years later, a multidisciplinary inquiry into counseling for genetic disorders by nongeneticists showed that poor recording of genetic counseling in hospital records was a common finding and a major impediment to the assessment of the routine genetic practice of non-geneticist clinicians.40 Therefore, standards for education and training were proposed, such as:

  • ‘The need for a national policy for auditing and improving undergraduate and postgraduate medical education in genetics should be considered.

  • Health professionals in all specialties and in primary care should have training in the basics of genetic management and prevention of disease. All health professionals should know how to obtain a basic family history and when and how to obtain specialist genetic advice.

  • Health-care professionals involved in the provision of antenatal care should receive special training in genetic issues.

  • The role of primary care must be recognized by enhanced training of community staff in identifying, appropriately referring and providing continuing care for those at risk'.40

Initiatives in undergraduate medical education are under way. Primary care providers' knowledge and expertise can also be increased through contacts with specialist centers, special interest groups, use of guidelines, and by collaboration in research projects as well as through the traditional forms of continuing education.2

Other healthcare professionals involved in genetic counseling. In Europe, although genetic counseling has been traditionally considered part of the clinical assessment and therefore only clinical geneticists could perform it, during the last 5 years a comparison with the North American organization model of the whole process has started. In North America, genetic nurses and genetic counselors with master's degrees have functioned as members of a comprehensive genetic service for many years; they are trained to collect and confirm medical and family history information, perform risk assessments, offer patient education regarding genetics, and provide supportive counseling services for patients and families.41,42 In Europe, several centers in different countries (eg, Belgium and The Netherlands) have worked for many years with multidisciplinary teams, consisting of physicians as well as healthcare professionals from psychosocial disciplines.

In September 1996, an International Meeting on ‘Psycho-social aspects of genetic counseling,’ held in Rome, pointed out the complexity of the consequences of a diagnosis of genetic disease, in particular from the patients' point of view. The need for other professionals such as psychologists, nurses or social workers was underlined in the meeting and also afterwards.43 In ESHG meetings in 1997 and 2000, satellite workshops on ‘Education, Training and Responsibilities of Non-MD Genetic Counselors’ and ‘Training of non-medical genetic counselors in Europe’ were organized. It emerged that an accreditation mechanism is needed for genetic counselors across European countries as well as a ‘career’ progression.

In the United Kingdom, recommendations for education and training of genetic nurses and counselors have been proposed.44 They emphasize the core competencies considered essential for practice and acknowledge that these may be achieved by different educational pathways. The guidelines consist of (1) specific knowledge or skill requirements; (2) the educational or training path recommended to achieve them; (3) an appropriate means of assessment.44 While higher education may equip nurses with a scientific knowledge base and critical thinking skills, empirical learning will assist the development of the professional competency.45 The psychosocial issues can only be adequately addressed if training has included supervised clinical experience over a sufficient period of time, and where feedback and reflection is sought and given.44

The need for well-trained non-MDs appears particularly obvious nowadays. The workload of clinical geneticists has increased more rapidly than their number.

Clinical genetics and other specialties

Advising and treating families with common monogenic disorders have traditionally been performed by internists and general practitioners. Similarly, testing for Rhesus incompatibility has been part of maternity care and PKU-screening part of neonatal care. These tasks would have been too laborious for the small number of genetic specialists, and specialists in other fields of medicine have the essential genetic knowledge for these tasks. In the future, there will be a growing number of situations falling in-between clinical genetics and genetics in medicine performed by other specialists. These include predictive testing in common multifactorial diseases if some tests are proved to be useful for managing the disease, carrier screening for recessive disorders and pharmacogenetic testing prior to the administration of drugs tailored to individuals' genetic profiles.

Clinical geneticists have here an important task in planning and supervising such work, in preparing information for the public and in educating the personnel for such projects, including the public health officials. They also have a responsibility to share their knowledge with the other specialists involved in genetic testing. For these reasons, it is important to establish strong relationships between clinical geneticists and specialists in other fields of medicine.46

In other respects, many tests have a low predictive value and must be interpreted with caution. Only teams working in a multidisciplinary setting, including molecular geneticists, cytogeneticists, biochemists, and clinical geneticists are likely to provide an accurate interpretation of the test results.47,48 It appears essential to an understanding of genetic testing to distinguish in common complex diseases, rare subsets of disease due to single genes of high penetrance from susceptibility genes of low penetrance.16 Testing for low penetrance susceptibility genes has still a weak clinical utility: clinicians are not able to predict outcomes for their patients as well as public health physicians for populations.

Organization

Advances in the understanding of genetics and of molecular biology and the translation of that knowledge into health care will have a profound effect on the future organization and delivery of services. Increased interest and demand from patients and practitioners is already being felt, especially where genetics centers are developing new services and raising awareness and expectations, as well as for commercial reasons. Awareness is even greater in the United States, where websites and private genetic centers promote genetic issues and testing opportunities.36

Education and training of clinical geneticists

In most countries the specialty of clinical genetics has been officially recognized. The requirements for specialization are in the average: service in clinical genetic units for 3–4 years, in a molecular or chromosomal laboratory for 1–2 years, with either of these services including a period in prenatal diagnostic centers. In countries where clinical genetics is not a specialty, it has been proposed that a physician should work as senior physician in a clinical genetic unit only if he/she has experience in clinical genetics of the same order as that required for the specialty in the other countries.1 In 2001, the European Society of Human Genetics recommended a Formal recognition of medical genetics as a medical specialty in Europe.

In addition to initiatives to develop medical schools' curricula so that genetics education is fully integrated, there are many web-based and CD-ROM resources for continuing education programs. These resources aim to promote the appropriate use of genetic counseling and genetic testing in patient care. They provide reliable, easy-to-use and current genetic testing information for the benefit of families and their health-care providers. Given the fast pace of scientific research in medical genetics, much of the up-to-date information that will be required to practice clinical genetics most likely will reside on the Internet.49 Although no single Internet site can provide comprehensive information, an amazing depth of content already is online, such as databases on human genes (human genome resources, OMIM, GDB, Genatlas, Genecard), on mutations (HUGO), on phenotypes and protocols (OMIM, Geneclinics, Pedbase, Orphanet, Nord), as well as databases on services (labs, specialized clinics, patients' groups, research projects, clinical trials). However, online genetics resources have other potential effects: (1) an increase in referrals for both clinical and research testing; (2) a possible over consumption of tests or services; and (3) advertisement for unreliable services. Thus, codes of conduct for online genetics resources imply transparency, an absence of conflict of interest, an updating process, a quality chart, an editorial committee with a peer-review system as well as interactivity. Codes of ethics for online genetics resources must be strict in order to protect the users.

Providers of services

All clinical specialties use genetic techniques and approaches in their practice; but the report prepared by the Royal College of Physicians of London11 showed that specialists in other fields and primary care physicians may feel unable to handle genetic issues and developments and may expect clinical geneticists to do this for them, giving a need for greatly increased numbers. Signs of this are appearing in referrals for familial cancers.42 Cardiology provides an example of a specialty where genetics involvement may become as extensive as is currently the case for cancers. According to the Council of Regional Networks for Genetic Services (USA),11 clinical guidelines are needed to define clearly the quality of care delivered by genetic services providers. In addition, primary care providers as well as specialists may need guidance if they have to participate in the initial work-up and ongoing management of patients and families affected by or at risk for genetic diseases.35

In each European country, CAGSE has recommended that there should be clinical genetic units providing specialist genetic services for the families.1 The units should not be too small and should have a possibility to exchange their experience and consult with one another. Because of the wide range of – rare – genetic disorders, collaboration between professionals is essential. In fact, rare diseases are not part of every physician's experience or training, many syndromes only manifest fully over years, or continuous follow-up of chronic patients often does not happen. Collaboration with families and patients' organizations is also crucial because they often have a long-time experience, medically and socially, about the disease, which otherwise is missing among so-called experts. Thus, there is a strong need for developing international networking for rare diseases in order to have professional networks, easily readable overviews of rare conditions, bioinformatics resources, but also interactive workshops presenting unresolved cases, as well as publications presenting unresolved, puzzling cases.

Many consider that the clinical genetic services should have multidisciplinary teams composed of MDs and non-MDs, including several psychosocial disciplines.2,18 Usually, the core team of a genetic service is composed of clinical geneticists and nonmedical genetic counselors, with access to psychologists, social workers and other medical/nurse specialists. Nonmedical genetic counselors have been trained in human and clinical genetics and counseling, sometimes in formal programs but sometime only in supervised practice. Clinical responsibilities are shared between clinical geneticists and nonmedical genetic counselors, with the exception of diagnosis, discussion about prognosis and management of the disease and further diagnostic investigations that are the responsibility of clinical geneticists. Nonmedical genetic counselors have an important role in supportive counseling and reinforcement. Teaching responsibilities are also shared between clinical geneticists and nonmedical genetic counselors. The latter have a special responsibility for designated general practices and specialty clinics, and constitute a point of access to centers.

Finally, clinical units must closely collaborate with diagnostic laboratory facilities. The organization of genetic laboratory services has been greatly improved over the last decade, whether for increasing diagnostic resolution or mutation detection techniques or bioinformatics.13 Thus, it is strongly suggested that the organization of clinical genetic services should optimize the provision of cytogenetic, metabolic, and molecular genetic testing services, as well as the collaboration with university hospitals and with human genetic research centers.12,50

The requirement of well functioning units of sufficient size is so important that it can override the patient's possible wish to have a short way to the clinic. However, the patients' desires to have a short way to the clinic should not be underestimated. Geographical inequalities exist everywhere, with rural people getting fewer services. Outreach services like visiting nurses, telemedicine, or internet may be envisaged. Also, the socioeconomic situation and level of health care services differ among the European countries. The assortment of specialist genetic services is very wide and it has been anticipated that all European countries will not be able, in the coming years, to offer all these services to their inhabitants.51

Regional centers vs local centers

There are no reliable reports on the organization of genetic services in each country, except for the CAGSE report (1997), which showed that the organization models are different. Models for service development have primarily been set up by genetics centers alone or in collaboration with academic departments of general or family practice, or with health maintenance organizations (HMOs) in the United States, or with individual family physicians. In the United States, genetic centers now offer comprehensive genetic care plans for large HMOs or to other providers and their patients.52 In Europe, not all centers operate in the same manner, reflecting the differing geographical locations served or the different facilities depending upon their resources and those of their nongenetic colleagues.

For some rare diseases, national and supra-regional services have been established. Since a large number of genetic diseases are rare with a very low frequency among population groups, it is unrealistic to imagine that local laboratories could meet the future genetic testing demand for the enormous number of rare genetic diseases. The availability of genetic testing for these diseases will more likely be dependent on using cross-European genetic testing services provided by specialized reference laboratories. However, this should always be associated with appropriate genetic counseling in the patients' own country.1 Other centers undertake disease-specific clinics and actively manage the surveillance for complications in specific diseases. Such clinics would not be a ‘core service’ but may form part of the agreed protocol of care for that center.11,53

Genetic services in many countries have been developed as multidisciplinary regional centers with strong links with academic human genetics. Close collaborations between regional centers and professional groups has resulted in the establishment of a number of highly effective national networks – for instance, in oncogenetics and neurogenetics – to ensure that particular expertise is utilized for the benefit of patients from any region. Such networks are considered very useful. Finally, recognizing that clinical and laboratory services need close links, coordination in purchasing of all elements of regional services has also been promoted.

Genetics in multidisciplinary teams

Considerable expertise has been built up in the delivery of clinical and laboratory services for a wide range of genetic disorders. Such expertise can be used for the development of services for further conditions, as research and technological advances allow. Effective working relationships have been established with various clinical specialists as well as with those in primary care. However, joint appointments have been rare. With the growth of genetic applications in specific fields, joint appointments offer opportunities that may allow the necessary clinical specialist and genetics expertise to be combined. Joint appointments between oncology and genetics centers are an example that has evolved in several regions, and this pattern might be seen in other specialties.11

The important points to highlight in developing genetics in multidisciplinary teams are: (1) the need for recognition of professionals involved in genetic counseling, and ensuring the proper training and supervision for such professionals, as well as developing a recognized career pathway for them; (2) the need to find their role not only in counseling rare hereditary diseases but especially in more common diseases, for instance, families with suspicion of hereditary cancer and other immoderate risk individuals;54,55 The development of such services requires that responsibilities of different disciplines need to be understood and agreed upon.45 Such a system has been developed for hereditary cancers in Finland, where a three-level model of collaboration has been instituted, involving nurses, primary care physicians and medical geneticists. Specially trained nurses56 working in the regional cancer societies have preclinic responsibilities; when the situation requires consultation with a physician, primary care physicians document in more detail the cancer history and then, when needed, medical geneticists do genetic counseling, testing and follow-up. Although this three-level model still needs to be improved and assessed, it could be suitable for other common disorders, for instance dementia. In addition, genetic counselors and genetic nurses have important and often rather independent roles in prenatal screening programs and other situations where counseling is needed for a large number of clients.

As the specialties continue to expand, members of departments will need to work in a collective manner so that most of the functions relating to patient care can be delivered to the population that they serve. For instance, in prenatal genetics, (safe) invasive procedures, (reliable and rapid) laboratory testing and (reliable and rapid) risk assessment require the collaboration of obstetricians, geneticists, and clinical chemists. Prenatal genetics requires early decision making, alternative options, as well as rapid definitive results. Ideally, to help parents in their decision-making, organizations should strive to shorten delays so as to afford parents as much time as possible to weigh their options when faced with unexpected lab results.

Collaborating by dividing up the work is a practical approach allowing clinical geneticists and other specialists to share their experience, to start specific programs, protocols for specific conditions, or problem/patient-based approaches. But such collaboration takes mutual respect and honesty to collaborate as professionals; it is also only possible in multidisciplinary situations and it involves financial and other practical aspects.

Moving from research to clinics

Service development is a crucial part of genetic service provision and maintenance of quality, given the rapid changes. Mechanisms need to be developed to translate beneficial research findings into service in a framework, which allows for evaluation and further development. Patient support groups who collaborate in research want to be reassured that once the research is over the service will continue if proven to have benefits.57

Undoubtedly, the ability to document the genetic structure of individuals will allow a greater understanding of disease mechanisms and a better prediction of their susceptibility to disease, but the pace at which these risk predictions will become useful in the clinical situation, or the extent to which individuals will change their behavior or allow effective interventions to alter that risk, is uncertain.16,47 Also, the new technologies associated with genetics and the increasing expectations of patients may create significant cost pressures that will have to be carefully considered in the context of health-care systems with finite resources at their disposal.16,58

Several factors must be considered in the decision whether new genetic tests and new medicines should be part of service provision. Sufficient attention must be paid to the elaboration of the appropriate counseling context in a genetic center, preferably involving a multidisciplinary team. For some other tests the training of other physicians may be necessary. In the latter case, an area of concern is whether physicians are able to interpret results for their patients.

While the large potential markets for genetic tests for common conditions make these tests attractive to commercial concerns, marketing such tests raises questions. One such question is whether the patient actually benefits from knowing his or her risk of disease. Another question is that physicians may have little to offer in terms of preventive and curative strategies. It is recommended that adequate standards should be set for all aspects of genetic testing, both in relation to analytical validity and clinical utility. It might take many years to be sure that the identification of groups at risk for common diseases, or for specific drug therapies and consequent interventions, is beneficial. It is generally considered that major programs of for instance genetic screening should not be launched until the scientific basis of specific genetic developments is beyond doubt.2,16,59,60 The danger is of inadequately evaluated, unregulated tests of potential promise but unproven value being passed on to service providers.

Public vs private

In Europe, genetic services are mainly paid for by the public health care system and equally available for all citizens independent of their economic or insurance status.2 If an individual wants extra services, for example, carrier testing for rare recessive disorders for which they have no increased risk, such services are provided in some countries by private health-care system at their own expense.

For some laboratories the number of tests performed may be of great interest. Pressure to maximize testing may influence the way information is presented, and there is a potential danger of testing being encouraged, regardless of individual benefit. Commercial testing has already been launched for a number of different genetic disorders. Genetic testing services can be offered to the public with minimal genetic counseling. In the United States, there is a growth of private genetic services that are marketed directly to the public.36,61 Another difficulty appears if a private company is able to obtain a patent on a particular gene. The most publicized example is the patenting of the BRCA1 gene. This has enabled a company to specify terms on which other laboratories may, or may not, test for mutations in the gene. In the USA, other laboratories are not permitted to test for BRCA1 and BRCA2 mutations, and some might have lost important expertise and manpower as a direct result.

This raises questions about whether health-care systems should be obliged to pay increased amounts for each test done by the company, thus reducing the number of tests that they may be able to offer within the health service budget, and introducing the possibility that a two-tier health-care system could develop, where some private individuals may be able to pay the fee for the test if the health service cannot afford it in their case. In addition, there is the question of who provides and funds the genetic counseling for the privately performed tests.62 An unscrupulous approach could ruin public confidence in genetic testing and give responsible companies a bad name. Regulations protecting the public and setting standards for industry could therefore be of great benefit to all parties involved.58,63 The challenge is how to maintain standards as testing encompasses increasing numbers of diseases and pressures to contain costs of genetic services increase, particularly since the cost of pre- and post-test activities may equal or even exceed the laboratory costs of the test itself.64

Funding

In recent years, the workload of clinical genetic services has increased dramatically. But the increasing workload has not been paralleled by increasing resources, and there is considerable variation among regional centers in terms of staffing and other resources. The pressure on clinical genetic services is increasing as knowledge advances, as the possibilities increase (in particular, if there are significant breakthroughs in pharmacogenetics) while new resources fail to keep up with progress.65,66 It has been argued that priorities will need to be set even with projected increases in the level of funding.16

However, there is a consensus in order that the costs of specialist genetic services be collectively covered by the public health-care system, health insurance or other means used in the country concerned. The costs should not be left to the individual family and it may be unfair to leave them to a local small community. In the UK, a model of contract for a clinical genetic service with the NHS shows that it is economically feasible.67 The Belgian system, whereby a decree regulates the organization of genetic services (see Appendix A) can also be considered as an alternative. In the Netherlands, genetic services are incorporated in the health care and funded in such a way that equal access is guaranteed (see Appendix A).

Quality assessment

Quality assessment of clinical genetic services

Measuring the quality of services like diagnosing rare disorders or counseling is extremely difficult. In addition it is difficult to outline the requirements of ‘minimal’ or ‘optimal’ quality in clinical genetics.

Means of maintaining high standards of quality of clinical care comprise a system of clinical audit in place to assess the use of protocols of care, the accuracy of diagnosis, of pedigree analysis, of risk assessment, the quality of record keeping as well as the quality and promptness of explanatory letters to referring clinician and patient. Means of maintaining high standards of quality of clinical care also comprise a system for active follow-up of investigations: agreed plans for follow-up of patients and notification of kindred, support, including the arranging of prenatal tests and post-termination counseling.11 It has been suggested that each clinical genetic unit should collect standard data on which its effectiveness can be measured. They should include: (1) the numbers of families/individuals seen; (2) districts of residence of patients and family members; (3) number and type of individual diagnoses; (4) number of patients seen at central/peripheral clinics; (5) sources of referral: general practitioners, pediatricians, obstetricians, other consultants, nurses, self-referrals, other; and (6) measures of the amount of benefit for the patients, such as the ‘Perceived Personal Control’.11,40,68,69 The Health Council of the Netherlands20 also proposed regulations on clinical genetic testing and counseling in order to promote high quality standards. The committee concluded that concentration of clinical genetic testing in university centers has contributed to continuity and quality improvement; this concentration should be maintained in view of the nature of genetic counseling. In the light of recent developments in the field of clinical genetics, the committee recommended that the professional groups involved in clinical genetics should have responsibility for drafting and updating quality requirements; in this context, the government's role should be supervisory.

Quality of counseling process may also be measured. In genetic counseling, probability information is essential; the context and the presentation of risk information influence the subjective perception of the information and the subsequent decision.70 Clinical geneticists ‘are said to espouse a nondirective’ method of counseling clients, but frequent deviations from non-directiveness have been shown.19,71 Another approach called ‘shared decision making’ has recently been introduced into genetics and seems to fit well into some counseling situations.72 The meaning of ‘nondirectiveness’ has been extensively discussed and the definition that has been proposed for the genetic context is the following: ‘nondirectiveness describes procedures aimed at promoting the autonomy and self directness of the clients’.73 In this context, a clear view on all options and all outcomes is very important for the clients.68,70

In other respects, some aspects of genetic counseling are not reflected in all definitions of genetic counseling and do not seem to have always received sufficient attention in practice and training. There are two basic approaches to genetic counseling: (1) the teaching model and (2) the counseling model. Attempts are made to combine a teaching model with a counseling procedure. However, the skills needed for teaching and counseling differ so vastly that it has been claimed to require ‘unusually gifted and flexible’ professionals combining them both. It is essential that both pedagogical and counseling skills, including the awareness of one's own biases, should receive sufficient attention during training programs. On the other hand, a team approach by professionals from different disciplines – medical, psychological, social – also contributes to the combination of a teaching model with a counseling procedure.

Evaluating the success and quality of genetic counseling is complex not only because of the different approaches to genetic counseling, but also because it is difficult to define adequate outcome measures that are compatible with the aims of genetic counseling. How well do patients recall information? How has genetic counseling altered their plans? How have they in practice chosen to act on the basis of the information received? How satisfied are they with the process of genetic counseling? Information, reproductive plans and reproductive behavior cannot be considered as simple numerical measures of success or effectiveness of genetic counseling. Thus, some argue that a typical audit-approach for assessing the success or effectiveness of genetic counseling is not feasible and could give rise to misleading conclusions and wrong decisions in the allocation of resources for health-care and clinical services. Perceived personal control seems to be an appropriate outcome measure. This concept was found central to coping with health threats and to adapting to a broad spectrum of health problems. In a study of genetic counseling cases, comparisons of the perceived personal control scores, before and after counseling, showed significant increases of perceived personal control.68 A ‘retrospective assessment of satisfaction’ approach is another appropriate outcome measure. Indeed, relying on statements of satisfaction of ‘naïve’ clients may be inadequate. They are in a much better position for this type of judgement some time after the process of genetic counseling is completed. Simple outcome measures seem attractive but give a too superficial, incomplete picture of the quality of genetic counseling. Yet, global outcome measures for the entire process of genetic counseling seem unattainable and, moreover, ‘attempts to devise such a measure could lead to inappropriate efforts to reshape the activity of genetic counseling’.33

Involving the patients in the quality assessment of genetic services may help clinical geneticists offer a higher quality service. Geneticists want to provide the highest quality service. But what are the patients' expectations? Patients' concerns may differ from geneticists' concerns, and any outline of optimal services should reflect both. This objective has implications for the development of ways to build public confidence in, and understanding of, medical genetics. In the absence of this dialogue, there is likely to be both unrealistic optimism and unrealistic fear about genetic services. Links with the patients or their representatives is also fundamental in achieving full and equitable delivery of genetic services, since major problems in service delivery are perceived by patients and families. Access is not always consistent or satisfactory, services are not always adequately linked to other medical specialties, nor are all aspects of patient situation(s) necessarily addressed.

Finally, when considering the quality assessment of clinical genetic services, it is necessary to consider how the broader teaching of genetics is organized and how it becomes an integral part of all the medical specialties. Teaching and training in clinical genetics and genetic counseling are still strongly needed. In the last 10 years, several countries have recognized genetics as a medical specialty. However, very few European countries have specific regulations regarding teaching and training in medical genetics. Only in the United Kingdom there is a long history of regulation of medical genetics training. At the European level, various suggestions have been made, such as (1) to develop a common curriculum and training activities for postgraduate programs in medical genetics; (2) to recommend the creation of national bodies board of clinical genetics, specialty advisory committees, specialist registers, and accreditation systems; and (3) to improve the international exchange of experiences (European courses, practical short-term training periods in a different country, an accreditation system for participating in European quality-control studies).

Quality assessment of genetic laboratory services

The laboratory procedures in genetic laboratories and/or centers should be under similar quality control as the other clinical services. High-quality laboratory services include the identification of laboratories and units with which the clinical genetic unit can connect and the participation of those laboratories in a quality assurance scheme. An attempt to coordinate External Quality Assessment systems has been developed through the European Molecular Genetics Quality Network, the European Concerted Action in Cystic Fibrosis and the UK National External Quality Assessment scheme for molecular genetics, which includes Ireland and the Netherlands.74,75,76 External quality assessments for testing strategies have been organized in different diagnostic laboratories for different diseases (HD, CF, Y chromosome deletion) and laboratory guidelines have been proposed. A proper implementation/validation of testing as well as quality controls and quality assessments have been recommended. The present molecular diagnostic situation is in fact far from ideal: laboratory errors are made; in other respects, it is difficult to get additional funds for the implementation of diagnostics or new technologies, in spite of a greater demand from clinicians and patients, there are many genes to be tested and many new emergent technologies.74 Training programs for staff members and laboratory accreditation by professional bodies are also needed.

Many genetic diagnostic laboratory services are organized in close – physical or functional – contact with a clinical genetic service. In the not so distant future, common technical platforms may be created for the diagnosis of genetic and of acquired (malignancy, infections) diseases as well as for the genetic predispositions and for pharmacogenetic polymorphisms. It has been argued that geneticists should discuss with their colleagues (clinical chemists, pathologists, microbiologists, and medical specialties) on how to organize the laboratory activities in the future. At the least, a genetically trained MD with a long experience in clinical genetic services together with one properly trained non-MD could be partners of the team that will run these technical platforms in the future. Several geneticists are concerned that genetic testing, becoming more kit-based and more automated, continues to be provided in an adequate counseling framework. They are also concerned in retaining the confidence of the public in genetic testing by promoting and improving standard of quality in all the centers involved.13

The American College of Medical Genetics77 developed standards and guidelines for clinical genetic laboratories. These standards and guidelines aim to assist medical geneticists in providing accurate and reliable diagnostic genetic laboratory testing consistent with currently available technology and procedures in the areas of clinical cytogenetics, biochemical genetics and molecular diagnostics. In determining the propriety of any specific procedure or test, the medical geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Regarding personnel policies, a laboratory director and/or technical supervisor must have an appropriate doctoral degree and at least 2 years of postdoctoral training and/or experience in his/her clinical laboratory subspecialty and certification or eligibility in medical genetics. Certification in pathology or clinical chemistry with appropriate training and/or experience in genetics may substitute for certification in medical genetics. In addition a clinical consultant is required for all laboratories and (s)he must be a clinical geneticist or a clinical cytogeneticist.

Public education

Today, access to information is easy, in quantities unimaginable, and keeping up to date is a difficult task. Access to the internet exposes the public to genetic information, which can serve to inform as well as to confuse. Also, because of the wide range of rare genetic disorders, it is unrealistic to expect that all primary care providers will be able to help families with rare conditions. Clinical geneticists are often asked to provide talks, lectures, and seminars. Clinical geneticists recognize that they have responsibilities in the area of education, in particular to translate some of the complex scientific concepts inherent in genetics into more understandable information. But clarification of misinformation can be extremely demanding of time. It is now proving almost impossible to respond to all requests, and therefore clinical geneticists must agree together with specialist colleagues in respective departments, genetic nurses, and patient support groups as to how to prioritize the educational demands and how to respond. In the United Kingdom, it has been reported that many departments are involved in developing courses for different patient support groups. In other European countries (eg, Belgium and The Netherlands), genetic centers have played an important role in the development of educational tools (eg, leaflets, videos); in 1999 in Belgium, the Advisory Committee on Bio-ethics organized a large-scale conference on ‘Heredity and Society’ with the cooperation of members of several genetic centers on the organizing committee as well as during the meeting.

It has been recommended that governments should set an open and wide-ranging agenda for discussion about current and future developments in genetics.16 There should be a concerted campaign to raise public understanding and awareness. If this process were to be properly managed there is no reason to suppose that genetics should not continue to command wide support among the public.

Telecommunications and the internet will increasingly bring changes to the relationship between physicians and patients, and between patients and the new kinds of knowledge to which they have access. These technological developments and trends will affect the future impact of genetic science on health care. For instance, recording and accessing genetic data for a patient will be of increasing importance, in the context of increasing opportunities for prenatal diagnosis, and for prediction of common disease risk. Coupled with referral guidelines and computer decision support, the new communication technologies may provide useful methods of supporting primary care providers in the field of medical genetics; but this will require the information to be in a format that is appropriate for the individual user.48,78

Partnership with patients support groups

Some consider that the involvement of service users should be encouraged; service users' concerns may differ from professionals' concerns and any outline of optimal services should reflect both.79,80 Where umbrella organizations exist, their views will be most helpful in commissioning genetic services. For instance, in the United Kingdom, the Genetic Interest Group (GIG), an alliance of charities and voluntary groups for families affected by genetic disorders, has been running a systematic awareness-raising program, designed to fit in with local patterns of service provision and incorporating continuing medical education recognition.66 GIG also produced a cross-curricular teaching pack, for use by science and humanities teachers working with adolescents, as well as an information booklet for the brothers and sisters of children in whom a genetic disorder has been diagnosed. This booklet is designed to help parents and professionals for addressing the questions, which raise themselves in the minds of children when a genetic diagnosis is made.66 In Belgium and The Netherlands, the cooperation between genetic centers and umbrella patient organizations has also resulted in good information tools. In countries without umbrella organizations, the partnership with patient support groups is less organized and usually works well in case of some patient support organizations but fails in case of some others.

Multicultural aspects

Within any country there exists a diversity of cultures and opinions about a number of issues relevant to genetics. These include human reproduction issues and community and individual approaches to the significance of disabilities.81,82,83 This diversity has been almost always respected and this should continue to be before setting program goals. However, medical services for ethnic minority groups are targets for improvement. In the United Kingdom, the multidisciplinary inquiry into counseling for genetic disorders by non geneticists found marked regional inequalities of access to genetic services for beta thalassemia major, a disease predominantly of ethnic minority groups.40,84 These inequalities contrast with what has been shown to be possible in well-documented and successful models of routine thalassemia prevention in Mediterranean populations.

Community meetings may be encouraged to discuss important issues, such as the value of learning about one's own medical family history and where to go for genetic counseling. It has been recommended that future development of genetic services should emphasize the provision of linguistically and culturally appropriate resources.51 Providers of services require training, resources and information about the relevant groups within their referral area. Some consider important that culturally sensitive issues, such as genetic counseling, for instance, be dealt with by the personnel who speak the patient's language, understand and empathize with the community and relate to its culture. The caregiver should be seen to relate to the culture by the individuals being counseled. Links may need to be established with specialist services in case of diseases such as hemoglobinopathies. Minority ethnic individuals may be involved in both the development and delivery of genetic services for their community.85,86

Conclusion

Some general conclusions were identified from the ESHG workshop to arrive at outlines for optimal genetic services. Participants were concerned about equal accessibility and effectiveness of clinical genetic services, quality assessment of services, professional education, multidisciplinarity and division of tasks, as well as networking.

Genetic services are under considerable pressure in order to integrate the new discoveries and to ensure equal accessibility. Patients' needs have increased, whether it be for differential diagnosis for individuals with a manifest disease, predictive testing for at-risk individuals, carrier testing, prenatal diagnosis for relatives of diseased individuals, or different other services for subpopulations. Methods to assess genetic constitution, whether at phenotypic or genotypic level, are routinely employed by many specialties. Genetic counseling is much more than informing a patient or family about the genetic nature of a condition. Thus, it requires specialist training, whether with a MD background or not, and must include a ‘psychosocial awareness component’. Setting-up a genetic service requires to provide a basic understanding of medical genetics in undergraduate teaching and educational competence for postgraduate training in medical genetics within other specialties. It requires to appeal to the authorities to grant exclusive educational competence in medical genetics and to mandate formal training in medical genetics to all those participating in a genetic service. Structuring a comprehensive genetic service also requires a team approach, with interdependent specialists and overlapping skills. However, specialties have to be delineated more accurately: the complexity of the team approach is in the coexistence of overlaps and boundaries of responsibilities. Health planners must be aware of the delineation of specialties and stimulated to implement the organization of autonomous genetic services in hospitals that still lack those services.

It is important to prepare all those who work within the health services for the anticipated changes to clinical practice and the consequent demands these will make on services' organization and funding. Of course, the manpower and resource implications for such a wide-ranging educational program could be enormous. Consideration would have to be given to how this huge amount of training and education would be undertaken. The new technologies of information can be used to better inform health-care providers and the public about the possibilities and limits of what genetics can provide to improve the diagnosis and management of genetically determined conditions. Standard protocols will be available soon as well as information leaflets to complement the information provided at individual clinics. Telemedicine will help getting advice from highly specialized centers for very rare disorders. Patients will be able to share their experience with other similarly affected people through internet. This is likely to improve the quality of services delivered and the satisfaction of consumers, this in addition to the further elaboration of the necessary services at the regional level.

Finally, within European countries, adherence to the organizational principles of prioritization, regionalization and integration into related health services would maximize equal accessibility and effectiveness of genetic actions. There is a need for harmonization of the rules involved in financial coverage of DNA tests in order to make these available to all Europeans, regardless of their financial status and origin. Clear guidelines for best practice will ensure that the provision of genetic services develops in a way that is beneficial to its customers, be they health professionals or the public, especially since the coordination of clinical, laboratory and research perspectives within a single organizational structure permits a degree of coherence not often found in other specialties.