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’.