Provision of genetic services in Europe: current practices and issues

Abstract

This paper examines the professional and scientific views on the social, ethical and legal issues that impact on the provision of genetic services in Europe. 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. The methods was primarily the analysis of 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, the method was to examine the background data emerging from an updated report produced by the Concerted Action on Genetic Services in Europe, as well as the issues debated by 43 experts from 17 European countries invited to an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Helsinki, Finland, 8 and 9 September 2000. Some 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. 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. Clear guidelines for the 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.

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

“…In the older literature about half of the articles that mentioned a solution suggested involving patients in the process of recontacting. 1,7,10,12,18,21,23,25 Patients could contribute by, for example, contacting the department regularly to inquire about new genetic information, keep the genetics department up to date regarding address and personal information, and checking for new genetic developments on websites. Fitzpatrick et al 12 suggested including informing the media, support groups, and other health professionals in the recontacting process.…”

Telegenetics: a systematic review of telemedicine in genetics services

“…This often involves several visits to a genetics clinic to undergo genetic counseling and physical evaluation, receive genetic test results, and attend follow-up appointments. In Europe and the United States, access to genetics services is often available only in urban centers, 18,19 which means that remote populations may not have access to the information, treatment, and psychosocial support that genetics services can offer. The potential for using telemedicine in clinical genetics service delivery has been highlighted by a number of authors, [19][20][21] who have suggested that it may enable more equitable access to genetics services for people who must otherwise travel long distances to specialist centers.…”

“…In Europe and the United States, access to genetics services is often available only in urban centers, 18,19 which means that remote populations may not have access to the information, treatment, and psychosocial support that genetics services can offer. The potential for using telemedicine in clinical genetics service delivery has been highlighted by a number of authors, [19][20][21] who have suggested that it may enable more equitable access to genetics services for people who must otherwise travel long distances to specialist centers. Indeed, an increasing number of studies are exploring alternative models of service provision, including genetic counseling over the telephone, 22,23 and genetics consultations via real-time videoconferencing, 24 so as to improve equality of access, improve cost efficiency, and help to meet the increasing demand for these services.…”

The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

“…This document provides a reflection on the paradigm shift in the field of human genetics from rare monogenic to common disorders with a genetic component. It continues a tradition of documents and initiatives that were set up to assess and harmonize genetic testing services in Europe (Godard et al 2003); (Ibarreta et al 2004); (Cassiman 2005). This first background document led to the second document: recommendations that aim "to reflect the view of the European human genetics scientific and professional community" on genetic testing and common disorders in a public health framework at that moment (van El et al 2011).…”