• 4.1

    Development of a Counselling Support and Patient Empowerment Framework
    WP4 will develop a (national) Counselling Support and Patient Empowerment Framework (CSPEF) to be used in a WGS-first approach care pathway, which will cover the initial counselling process and consent at intake, plus any other subsequent moment with physician-patient interaction in relation to the diagnosis (or absence of it). The CSPEF will consider especially ethical aspects, besides legal aspects, including secondary findings, storage, sharing and re-use of genetic data, privacy aspects, re-contacting, patient satisfaction, quality of life, patients understanding, psychological well-being and the impact on (extended) family members.
    Medical professionals - The WGS-first approach implies that not only clinical geneticists should be involved early, but also other medical professionals like paediatricians, psychosocial caregivers. This is not only essential for this study, bit also later, if used on common practice. This essential change in practice requires a national, novel approach to multidisciplinary counselling, involving both physician-physician contact as well as physician-patient interactions. The CSPEF will provide a guideline for medical professionals addressing these aspects.
    Patients - Patients who are offered diagnostic WGS face many choices and uncertainties, also after diagnosis, for which they are usually unprepared. It is therefore important to support patients, parents and families to make these choices in accordance with their needs, values, preferences, experiences and perspectives. This WP will consult patients and parents to obtain their perspective and define their role in the CSPEF, which will include principles and means to support, (future) patients for informed shared decision making and involvement. ‘Dynamic consent’ will be the leading principle to facilitate them, including those with low education/health literacy, and to tailor their own consent preferences and enable self-management. The CSPEF will cover these aspects by a ‘shared decision making instrument’.
  • 4.2

    Development of a Data Governance Advisory Document
    Patients express their wish to ‘own and control’ their genetic data. Therefore, possibilities to more actively involve future patients in the governance of their genetic data will be explored. For this, a Data Governance Advisory Document will be developed from the patients perspective, but taking into account the medical perspective and operational challenges.


This WP will be executed by experiences staff at patient organization VSOP, in cooperation with a PhD student at UMCG (financial matching by UMCG) on the ethical aspects of the CSPEF, addressing consent, secondary findings, recontacting, family and privacy aspects. In addition, trainees at participating centres will assist. The methods used will consist of interviews and focus groups with patients and medical professionals.

  • 4.1 Counseling Support and Patient Empowerment Framework
  • To develop the CSPEF, we will analyse the already available counseling protocols used in participating centres as well as all relevant local and (inter)national ELSI-publications, protocols, position papers, guidelines and patient information forms. In addition, we will examine the needs, experiences and perspectives of caregivers involved in the diagnostic pathway using (qualitative) interviews and focus groups.
  • To ensure that the CSPEF is attuned to the patients’ needs we will investigate by i) the already available literature reporting on patients experiences with WGS diagnostics, ii) qualitative prospective and retrospective interviews with patients who will be diagnosed in this project, and iii) observation of physicianpatient interactions during the project. A draft version of the CSPEF will be piloted in at least two participating centres.
  • 4.2 Data Governance Advisory Document
  • The patients’ perspective on their role in governance of genetic data of will be explored by invitational meetings with patients and representatives from both the NDD and NICU models disorders, as well as from other relevant rare diseases (as identified by the VSOP based on expert opinion). This exploration will include their views on the above mentioned ethical and legal aspects assessed in the CSPEF, as well as on for instance, the secondary use of the patient’s and parent’s WGS data for diagnostic and research purpose outside the scope and objectives of the initial diagnostic question.
  • 4.3 Implementation and dissemination
  • The CSPEF will be offered to all (national) clinical (genetic) centres for implementation. In addition, they will receive the Data Governance Advisory Document. In addition, the documents will be disclosed to other relevant medical and/or scientific societies, patient organizations and patient information serves.


  • D4.1 A Counseling Support and Patient Empowerment Framework (M36)
  • D4.2 A Data Governance Advisory Document dealing with patient involvement in the governance of their genetic data (M36)