Alastair Kent

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

The use of genetics and genomics within a wide range of health-care settings requires health professionals to develop expertise to practise appropriately. There is a need for a common minimum standard of competence in genetics for health professionals in Europe but because of differences in professional education and regulation between European countries, setting curricula may not be practical. Core competences are used as a basis for health professional education in many fields and settings. An Expert Group working under the auspices of the EuroGentest project and European Society of Human Genetics Education Committee agreed that a pragmatic solution to the need to establish common standards for education and practice in genetic health care was to agree to a set of core competences that could apply across Europe. These were agreed through an exhaustive process of consultation with relevant health professionals and patient groups. Sets of competences for practitioners working in primary, secondary and tertiary care have been agreed and were approved by the European Society of Human Genetics. The competences provide an appropriate framework for genetics education of health professionals across national boundaries, and the suggested learning outcomes are available to guide development of curricula that are appropriate to the national context, educational system and health-care setting of the professional involved. Collaboration between individuals from many European countries and professions has resulted in an adaptable framework for both pre-registration and continuing professional education. This competence framework has the potential to improve the quality of genetic health care for patients globally.

Managing clinically significant findings in research: the UK10K example

Recent advances in sequencing technology allow data on the human genome to be generated more quickly and in greater detail than ever before. Such detail includes findings that may be of significance to the health of the research participant involved. Although research studies generally do not feed back information on clinically significant findings (CSFs) to participants, this stance is increasingly being questioned. There may be difficulties and risks in feeding clinically significant information back to research participants, however, the UK10K consortium sought to address these by creating a detailed management pathway. This was not intended to create any obligation upon the researchers to feed back any CSFs they discovered. Instead, it provides a mechanism to ensure that any such findings can be passed on to the participant where appropriate. This paper describes this mechanism and the specific criteria, which must be fulfilled in order for a finding and participant to qualify for feedback. This mechanism could be used by future research consortia, and may also assist in the development of sound principles for dealing with CSFs.

DISCERN-Genetics : quality criteria for information on genetic testing

Information currently available to the public is inadequate to support those deciding to consent to a genetic test. As genetic knowledge continues to evolve, more people will be forced to consider the complex issues raised by genetic testing. We developed and tested criteria to guide the production and appraisal of information resources produced for the public on genetic testing. Lay people with and without experience of a genetic condition, and providers and producers of health information appraised and listed the criteria they used to rate the quality of a sample of information on cystic fibrosis, Downs syndrome, familial breast cancer, familial colon cancer, haemochromatosis, Huntingtons disease, sickle cell disease, and thalassaemia. These genetic conditions represent different populations, disease pathways, and treatment decisions. The information medium could be written, electronic, CD, audio or video. The quality criteria were tested iteratively (using the weighted kappa statistic) for the level of agreement between users applying successive drafts of the criteria to different samples of information. The final set of criteria consisted of 19 questions plus an overall quality rating. Chance corrected agreement (weighted kappa) among the appraisers for the overall quality rating was 0.61 (0.60–0.62). The criteria cover the scope of the information resources, information on the condition, the test procedure and results, decision making, and the reliability of the information. The DISCERN-Genetics criteria will guide the production and appraisal of information produced for the public, and will facilitate the involvement of the public in decisions around genetic screening and testing.

An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries

The aim of this study was to assess the quality of written information for patients and families about genetic testing, from a range of European countries. Written information relating to genetic testing for five conditions was gathered from genetic departments across seven European countries. Written information for each condition from each country was randomly chosen for assessment. Fourteen key issues had been identified by a number of pre-existing tools (in particular the DISCERN-Genetics tool) as being important for inclusion when developing or assessing material relating to genetic testing. Fifty pieces in total were assessed for the inclusion or omission of key issues. Although the majority of information discussed issues relating to the condition including background and effect (n=48, 96%), treatment and management (n=37, 74%) and heredity and risk (n=49, 98%), only half the information discussed where to obtain additional information and support (n=25, 50%). Less than half the information discussed what happens after the test (n=15, 30%), patient rights (n=12, 24%) and shared decision making (n=12, 24). Benefits were more likely to be included (n=41, 82%) than any risks involved (n=24, 48%). The issue discussed least frequently was the possible psychological and social effects of genetic testing (n=9, 18%). Pre-written leaflets tended to provide a more comprehensive discussion of the issues surrounding genetic testing than personal letters did and should therefore routinely be available to patients alongside personal letters. Written information should include risks and limitations of testing as well as discussion of the psychological and social aspects of genetic testing.

Non-invasive prenatal diagnosis: Public and patient perceptions

The possibility of the application of reliable non-invasive prenatal diagnosis to clinical practice, and its likely availability as a tool for routine antenatal screening, is an important and exciting development that will be of interest to women and couples - especially where there is a known risk arising from family history, or some other source, of having a baby with a serious, disabling or life-limiting condition. Managing the introduction of this new technology will require attention to the understanding and perceptions of women, couples and the wider society, as well as to the clinical, scientific, technical and logistic issues that will inevitably arise.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.

From DNA to the Community

Accessible online at: www.karger.com/journals/cmg Daniel Gaudet, MD, PhD Organizing Committee Chairman, CORAMH Chairman of the Board The Corporation for Research and Action on Hereditary Diseases Jonquière, Québec (Canada) Tel. +1 418 541 1077, Fax +1 418 541 1116, E-Mail dgaudet@saglac.qc.ca Conference hosted by The Corporation for Research and Action on Hereditary Diseases (CORAMH) and Health Canada

The Role of Voluntary Consumer Organisations in Genetic Services in the United Kingdom

This article describes the role of the Genetic Interest Group (GIG), a UK alliance of charities and voluntary groups for families affected by specific genetic disorders, as an advocate for the needs of patients and their families and as an agent of change in the development of genetic services in the UK. GIG now interacts with a wide range of audiences – lay groups, the professional community, policy makers, government and the media – in a variety of different ways, so that the perspective of the ‘end user’ is reflected in decisions about the application of the new genetics in the field of human health.

Risk and Benefit in Personalised Medicine: An End User View

Personalised, or stratified, medicine is creating opportunities for the development of targeted therapies for many hitherto unmet clinical needs. For patients and families this is a cause for optimism. But it is unlikely that these novel therapies will provide complete cures. Rather they will address some but not all symptoms of a condition. In such circumstances, early engagement with patients and families will ensure that developments are targeted at those aspects of a condition which really matter, not just those that are easy to count. This will make the development process more efficient, and improve the likelihood that patients will be able to access therapies if the development process is successful.

The path to successful commercialization of cell and gene therapies: empowering patient advocates.

Often, novel gene and cell therapies provide hope for many people living with incurable diseases. To facilitate and accelerate a successful regulatory approval and commercialization path for effective, safe and affordable cell and gene therapies, the involvement of patient advocacy groups (PAGs) should be considered early in the development process. This report provides a thorough overview of the various roles PAGs play in the clinical translation of cell and gene therapies and how they can bring about positive changes in the regulatory process, infrastructure improvements and market stability.