Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases

Abstract

Genetics in health care is shifting, and responsibilities of genetic and nongenetic specialists are changing, requiring new guidance on how to adapt health care to advances in genetic services. This paper explores facilitators and barriers in the process of implementation of innovations in genetic health care. Furthermore, lessons learnt for optimizing development of new genetic services are summarized. Barriers and facilitators in transition processes were identified using mixed methods, including an online open-ended questionnaire among professionals and an international expert meeting. A multi-case study approach was used to explore recent experiences with innovations in genetic services in different phases of implementation. Barriers encountered in transitions in genetic service provision include the following: lack of genetic knowledge and skills among nongenetic health care providers, resistance to new divisions of responsibilities, and a need for more close collaboration and communication between geneticists and nongeneticists. Facilitating factors include the following: statutory registration of genetic specialists, availability of essential staff and equipment, and existence of registries and guidelines. Other challenges are experienced in the establishment of the appropriate legal and financial structures. A set of points to consider for genetic innovation processes is proposed, addressing, e.g., transition management and cooperation and communication strategies.

Implementation of Pharmacogenetics in Primary Care: A Multi-Stakeholder Perspective

“…Both the interviews and focus groups were conducted using a similar semi-structured interview-guide (see Datasheet 2), designed to collect input on all aspects of change needed for implementation of pharmacogenetics. The interview guide followed the constellation perspective of van Raak et al (Van Raak, 2010) [adapted by Rigter et al (Rigter et al, 2014)], which describes that transitions in health care require new ways of doing (changes in practice), new ways of thinking (changes in culture), and new ways of organizing (changes in structure) by the actors involved. In this case, the topics included: views and expectations, required structural changes, when and whom to test, and roles and responsibilities.…”

Role and practice evolution for genetic counseling in the genomic era: The experience of Australian and UK genetics practitioners

“…The practice implications of greater specialism in the genomic era, considering the potential for IF outside a GC's area of expertise, also require further evaluation. Broader assessment of service delivery models for mainstreaming, including the views of non‐genetics professionals (Rigter, Henneman, et al, ) are also required to promote effective integration of GCs within these services.…”

DPD Testing Before Treatment With Fluoropyrimidines in the Amsterdam UMCs: An Evaluation of Current Pharmacogenetic Practice

“…Furthermore, we apply the "constellation perspective", by structuring the influences on implementation, as mentioned by the stakeholders, in terms of changes in culture, structure, and practice (Rigter et al, 2014). By doing so we aimed to define lessons learned for implementation of other pharmacogenetic applications beyond oncology and beyond DPD.…”

“…The "constellation perspective" was applied in the development of the interview-guide, as well as the analysis of the results from the interviews (Rigter et al, 2014). This theory implies that a group of individuals or actors (professionals and patients) are used to working in a certain structure, culture, and practice (the constellation) and by this are defining and fulfilling a function in a larger societal system.…”

“…A semi-structured interview guide was developed based on the constellation perspective (with key concepts culture, structure, practice) and main themes from literature on barriers and facilitating factors for implementation of pharmacogenomics (Rigter et al, 2014). The guide covered the following topics for oncologists, pharmacists, and lab specialists: the current situation of DPYD genotyping and/or DPD phenotyping, the procedures around DPD testing, the reasons for and experiences with the current approach, and barriers and facilitating factors of implementing this test.…”