Supplementary information to:

Developing a framework for implementation of genetic services:

Learning from examples of testing for monogenic forms of common diseases

Journal of Community Genetics

Tessel Rigter MSc, Lidewij Henneman PhD, Jacqueline E.W. Broerse PhD, Maggie Shepherd PhD, Ignacio Blanco MD, PhD, Ulf Kristoffersson MD, PhD, Martina C. Cornel MD, PhD


Martina C. Cornel, MD, PhD

Professor of community genetics & public health genomics

Department of Clinical Genetics, EMGO Institute for Health and Care Research

VU University Medical Center (BS7, D450)

PO Box 7057

1007 MB Amsterdam

The Netherlands

Tel: +31 20 444 8914

Fax: +31 20 444 8665



Details of methods, including:

-Questions, data collection, respondents and analysis of the online questionnaire; and

- Participants, programme and background document of the expert meeting.

Online questionnaire:

Programme and background document expert meeting:

Harmonizing Genetic Testing Across Europe

Network for test development harmonization, validation

and standardization of services

WP7: Quality in Genetic Counselling

WP8: Best Practice Guidelines for Provision of Clinical Genetic Service

Meeting 22 & 23 November 2011

Inntel Hotel Zaandam, Provincialeweg 102, Zaandam

Tuesday 22 November

13.00-14.00 Welcome and introduction

14.00-14.20 Genetic services in practice: Oncology

14.20-14.40 Genetic services in practice: Cardiology

14.40-15.00 Genetic services in practice: MODY

15.30-16.00 New genetic techniques and possibilities

16.00-17.00 Developing tools for best practice: discussion

Wednesday 23 November

8.45-9.00 Plenary start

9.00-11.00 Discussing needs for genetic services: group sessions

11.15-12.30 Discussionon proceedings: plenary

13.30-15.00 Preparing tools for best practice: group sessions

15.00-16.00 Presentation and discussion of outcomes: plenary

16.00-16.30 Closing remarks
Harmonizing Genetic Testing Across Europe

Network for test development harmonization, validation

and standardization of services

WP8: Best Practice Guidelines for Provision of Clinical Genetic Service

Building Excellence in Clinical Genetic Services

Background document for expert meeting November 2011

Tessel Rigter, Lidewij Henneman, Ulf Kristofferson and Martina Cornel


In 2010, the Council of Europe issued Recommendations of the Committee of Ministers to member states on the impact of genetics on the organisation of health care services and training of health professionals (1). In the introduction to these recommendations the published document describes that “The development of genetics in health care services has a major impact on the organisation of health care, leading to shifting from curative to preventive services, from in-patients to out-patients treatment, from specialised genetic services to genetics as an integral part of general health services.” Because of this shifting, new guidance is urgently needed in many countries.

Previous work already describes quality of genetic testing services (3), ideals of genetic counselling (4;5), quality in clinical genetics (6;7) and assuring quality in implementation of genetic services in middle and low-income nations (8). The WHO recommended different measures for developing and strengthening medical genetic services in 2002 (9). In 2003 a recommendation for provision of genetic services in Europe was published by the European Society of Human Genetics (ESHG), after reviewing current practices and issues (10;11).

In 2000 a workshop was held by the ESHG Public and Professional Policy Committee (PPPC) in Helsinki, Finland. Conclusions then were that 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. 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 centres 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.

Within Eurogentest2 (a Coordination Action funded by the 7th Framework of the European Commission) a workpackage (wp8) is now dedicated to create best practice guidelines regarding how to integrate/improve clinical genetic services in a national health care system. This project will focus mainly on the interactions between different stakeholders involved in genetic service. Because of different reasons testing for reproductive decision making (PGD, prenatal and preconception testing) will not be discussed within this project.

It is our hope that this project will result in a tool that will be useful for health care stakeholders in different countries to improve genetic services for their citizens. The final recommendations, guidelines and/or toolbox that will be developed will attempt to describe the optimal practice and interaction between different parties involved, including:

• (genetic) patients and their families, the users of the services;

• medical professionals such as primary care workers and other non-genetic specialists;

• genetic professionals from clinical and laboratory background.

Some examples of questions we would like to answer are:

- How are genetic issues/services included in day to day care?

- What should be reported?

- What are the requirements for communicating clinical genetic data from a lab to a non-genetic specialist?

- How should counselling guidelines be translated from the diagnostic setting to the setting of predicting risk and individualizing preventive interventions?

- What are the requirements to provide genetic counselling with regard to different clinical settings?

- What knowledge and training is needed by the lab geneticist and what by the non-genetic clinicians?

A first step in the description of best practice guidelines was to make an inventory of principles of good practice. For this aim a questionnaire was developed, asking the field for their perceived strengths, weaknesses, threats and opportunities in current (diagnostic and predictive) genetic services. The online questionnaire contained a short introduction and 13 open-ended questions (see appendix). Twenty respondents from 13 different countries[1] with a mixture of different backgrounds[2] completed all answers. The data were qualitatively analysed. They were open-coded in an iterative process using a computer software programme (Atlas.ti), to identify returning topics. These topics were then grouped in themes.

In short, the weaknesses and threats of current services are discussed and it seems as if the existing concerns have not changed drastically over the last decade. It is our duty now to take the opportunity to try to solve some of the problems, or as Goethe once said:

“Knowing is not enough, we must apply. Willing is not enough, we must do.”


Preliminary results

Main themes emerging from the responses from our questionnaire were: expectations of genetic developments, elements of good genetic services, genetic screening and prevention, genetic training and education, threats and prerequisites for good practice, quality assurance and cooperation and communication between different actors. Responses are summarised under each theme.

Expectations of genetic developments

With next generation sequencing (and array and chip technology, with less cytogenetics), genetic testing is expected to become faster and less expensive (less manpower needed). As a consequence the number of tests available and number of people having genetic tests will increase. It is expected that not only clinical genetic laboratories will offer tests in the future, but also e.g. clinical chemistry laboratories. Likewise more and more non-clinical genetic specialists will be involved in genetic services, while tests will result in more incidental and unintended findings.

There is a shift towards predictive/pre-symptomatic testing because of new gene identification studies and the increase in incidental findings. Some respondents also expect more interest in personal genomics (personalized medicine) and more direct to consumer testing (DTC). One respondent expressed a fear of too much focus on susceptibility tests and personalized medicine without ensuring good care in syndrome and rare disease diagnostics, reproductive decision making and pre-symptomatic and family genetic testing.

For clinical genetic services it seems important to keep up-to-date with emerging technologies, safeguarding clinical utility (including appropriate counselling) and keeping in mind that clinical practices should not be led solely by technological possibilities. Some respondents for this reason feel that clinical genetic services should be offered close to an academic environment, but it is also stressed that diagnostic and research activities should be clearly separated because the approaches and philosophies are radically different.

Elements of good genetic services

Testing should be preceded by an informed consent procedure, which will become more of a challenge if testing is offered more regularly and by more non-genetic specialists in the future and especially with the higher risk of unintended findings.

Pre- and post test counselling should be always be provided to the extent needed in the specific counselling situation, as well as (long-term) psychological care in case of a distressing results. Also (other) clinical follow-up after a positive result needs to be well-organised.

The threshold for receiving genetic counselling should be low, which could be achieved by regional offering of counselling, more attention on genetics by non-genetic specialists (e.g. in primary care), a possibility to directly make an appointment (without referral) and reimbursement of costs for counselling (possibly on the basis of a set of indications). Also costs for the tests should be reimbursed if it meets a set of established criteria.

Genetic screening and prevention

Secondary prevention through pre-symptomatic (e.g. neonatal, cascade or population) screening is seen as one of the most important advantages of genetic services. It is also expected that there will be more predictive or pre-symptomatic tests available in the near future. Some respondents however think that clinical genetic services are not pro-active enough and e.g. show limited interest in counselling of family members of a referred person. A well organised community approach with systematic screening available to all is seen as needed with examples of e.g. a preconception carrier screening programme, national neonatal screening programmes and cascade screening (for e.g. Familial Hypercholesterolemia, HNPCC and BRCA). Publication of reports about the decision making and evaluation of screening programs is mentioned as good practice.

Genetic training and education

Well-trained professionals (lab staff, medics, genetic counsellors), connected to excellent research institutes, should be involved in clinical genetic services. They need to be able to diagnose rare diseases (e.g. metabolic disorders), give proper counselling (non-medically trained profession), understand cyto- and molecular genetics and bioinformatics and have specific communication and cooperation skills.

There seems to be a lack of continuing medical education (CME: e.g. (web-based) courses, workshops etc. catered by geneticists) in genetics for non-genetic specialists and especially paediatricians and family doctors need to be trained better in genetics according to the respondents. Also the basic medical education needs to cater sufficient knowledge about genetic services (e.g. on which tests are available and their clinical utility (what could the results imply)). More publications on genetic issues in non-genetic medical journals could help educate non-genetic doctors.

Some respondents report a shortage of clinical genetic specialists and genetic counsellors and some a shortage of broad clinical knowledge and experience in this group.

Many respondents report an offer of genetic testing without the necessary experience or training. Especially a lack of understanding of sensitivity of issues (and harm that can be generated by misinformation) is reported for non-genetic health care providers (in primary and secondary care). Other concerns about this group are that they are unaware of the genetic background of some disorders, that they lack core competences and skills with regard to genetics, they do not understand the language of genetics and genomics at the desired level and are not aware of genetic risks.

Education of the public about genetics is also seen as necessary to raise awareness in the community about genetic risks and possibilities and implications of genetic testing.

Threats/prerequisites for good practice

Some respondents describe a lack of time, due to publication pressure in the academic setting and high workload especially in smaller centres. Lack of personnel has been described by multiple respondents (e.g. lack of bioinformatics experts and poor secretarial support) and also lack of facilities and finance are often named limiters of being able to offer the desired service quality. Lack of funding is mainly said to hold service providers back from adopting new techniques and services (e.g. cascade screening and other screening programs).

With the current economic situation respondents feel it is absolutely necessary to prioritise what are the most important health-themes to be addressed and to make sure services are delivered as efficiently as possible. Fears for priorities only in the public health field and not in rare diseases have been expressed as well as for the tendency of trusts and governments to think short and not long term. It is also seen as a challenge to maintain cost-effectiveness as much as possible when services are moving outside the traditional specialist care.

Reimbursement of costs for not only diagnostic and pre-symptomatic tests, but also the necessary accompanying (pre- and post-test) counselling are said to be prerequisites of good genetic services.

Quality assurance

To ensure quality in genetic services, standards and protocols need to be developed and used. Specific topics mentioned are the need for standards in predictive and pre-symptomatic testing especially outside the clinical genetic centres and reporting guidelines for laboratories. A description of roles and responsibilities of different parties is also necessary. For screening (national) legislation is said to be needed and some also state the same for human genetic testing in general. Quality control could be established by (compulsory) accreditation of laboratories, but also other parts of genetic services could be exposed to external quality control (EQA). According to some respondents it is the federal governments’ responsibility to formally insist on EQA. It is however also mentioned that it is difficult to measure how a person benefits from a genetic service.

Registration of trained staff is also mentioned often, for all parties involved: medics, lab staff and genetic counsellors. Some respondents propose federal postgraduate training with registration when fulfilled for all professions involved in genetics.

Cooperation and communication between different actors

The ability of professionals to cooperate with other disciplines is one of the main factors determining whether genetic services are delivered well. It is mentioned by many respondents that genetic services preferably should be executed by multidisciplinary teams. More specific multidisciplinary syndrome diagnostics with coordinated clinical services with specialist laboratories, and close collaboration between counsellors and clinical geneticists are mentioned. Also special ambulances for interdisciplinary outpatient clinics for specific (rare) diseases (haemophilia, Marfan syndrome, familial breast cancer etc.) are supported by the respondent group. Cancer genetic teams and a network for all questions in pregnancy (incl. gynaecologists, paediatricians, genetic lab and genetic counsellors) are mentioned as examples of good interdisciplinary cooperation.

Involvement of and dividing responsibilities with primary care and non-genetic clinical specialists is seen as necessary, because the increasing workload can not be handled only by clinical geneticists. Specifically primary care could serve as an outreach to patients/families who otherwise would not have come for genetic testing and/or counselling. Furthermore family doctors and non-genetic clinicians are experienced in management of the disease and are generally familiar to the patient, which could help in the education and counselling. Respondents think this will happen if the professionals outside clinical genetics see it as relevant for their practice. Of course we need to make sure these people are well equipped (see training and education), which could be facilitated by involvement of clinical geneticists in continuous medical education of other specialties.

What could stop genetic services to move outside the clinical genetic centres is that clinical geneticists might not see it to belong in “mainstream medicine” and non-clinical genetic professionals might not see the relevance of genetic for their practice. Primary care workers need to be educated about when to refer or when to ask a clinical geneticist for advise. More cooperation between primary care and clinical genetics, with use of a common (genetics) language, is desired by some respondents.

To decide on the content of standards and protocols a (national) expert committee on genetic testing is suggested. Most respondents also think positively about involvement of patient organisations in genetic service provision. Formulating expectations of patients, detecting weak links in current services and creating public awareness about genetic disorders for example could be tasks best suited for this group. Threat is that patient organisations focus often on a specific group of diseases and since resources are finite, maybe not all patient organisations can be satisfied. An organisation for rare diseases could help in prioritising and also in lobbying with politicians.

There seems to be uncertainty about how services are to be commissioned and what are the most efficient and effective organisational structures. Some respondents also mentioned a problem with continuation of current services, because of previous local initiatives by specific professionals who have no followers for when they will retire.

There is need for a clear description of the roles of all professionals involved in genetic services. For example some respondents think that clinical genetics in the future should mainly focus on rare diseases while other tasks will move to “mainstream medicine”. More cross-border cooperation is also desired by some respondents.

More contacts and communication between clinical geneticists and “mainstream medicine” and between different genetic services is desired (e.g more teamwork and more common meeting points, more regular partnership) for optimum quality of services. More partnership will help improve the management of rare disorders, could help interpret complex genetic tests, could improve the organisation of family testing, will help integrate genetics in clinical care en could help in empowering initiatives by concerted action. A respondent suggested that working together on special projects, such as preconception care, could help bring different professions together.