Hereditary disorders and child wish: continued development and evaluation of a reproductive decision aid for couples at risk of transmitting a genetic disease
Projectomschrijving
Erfelijke aandoeningen en een kinderwens: een online keuzehulp
Vraagstuk
Mensen met een verhoogd risico op een kind met een ernstige erfelijke aandoening staan voor een belangrijke beslissing wanneer zij een kinderwens hebben. In Nederland bestaan verschillende mogelijkheden om te voorkomen dat erfelijke aandoeningen worden ‘doorgegeven’ aan het nageslacht, zoals Preïmplantatie Genetische Diagnostiek of ‘embryoselectie’, of prenatale diagnostiek (onderzoek tijdens de zwangerschap). Paren kunnen er ook voor kiezen om geen kinderen te krijgen, een kind te adopteren, zwanger te worden en het risico op overerving te accepteren of gebruik te maken van donor ei- of zaadcellen. Al deze opties hebben voor- en nadelen en veel erfelijk belaste paren vinden het moeilijk om een ‘juiste’ keuze te maken.
Onderzoek en verwachte uitkomst
In dit project ontwikkelen en testen we een online keuzehulp die deze paren ondersteunt tijdens hun beslissingsproces. Op deze manier willen we de voorlichting over erfelijkheid en kinderwens verbeteren om paren te helpen bij het maken van een geïnformeerde keuze.
Producten
Auteur: Y. Severijns H. van der Linden C.E.M. de Die-Smulders C. Hoving J. Jansen L.A.D.M. van Osch
Magazine: Patient Education and Counseling
Magazine: Patient Education and Counseling
Magazine: Journal of |Genetic Counseling
Magazine: Journal of Assisted Reproduction and Genetics
Auteur: Severijns, Y Heijmans, M.W.F. de Die-Smulders, C.E.M. Bijlsma, E.K. Corsten-Janssen, N. Joosten, S.J.R. van Kuijk, S.M.J. Lichtenbelt, K.D. Ottenheim, C.P.E. Stuurman, K.E. Tan-Sindhunata, G.M.B. de Vries, H. van Osch, L.A.D.M.
Magazine: Journal of Genetic Counseling
Auteur: Y. Severijns C. E. M. de Die-Smulders T. Gültzow H. de Vries L. A. D. M. van Osch
Magazine: Journal of Community Genetics
Magazine: Journal of Community Genetics
Auteur: G De Krom, Y Severijns, WL Vlieg, YHJM Arens, RJT Van Golde, CEM De Die-Smulders, LADM Van Osch.
Magazine: Journal of Assisted Reproduction and Genetics
Verslagen
Samenvatting van de aanvraag
Couples at risk of transmitting a genetic disorder to their offspring are confronted with exceptionally difficult decisions regarding fulfillment of their child wish. As these decisions are particularly preference sensitive and value-laden, the importance of informed decision making cannot be overstated. To foster informed decision making, adequate preconception counseling and reproductive decision support is indispensable. Based on extensive qualitative and quantitative investigations in the oncogenetic setting (i.e. hereditary cancer carrier couples and involved health care professionals), we recently completed the systematic development and evaluation of a patient decision aid (DA) on hereditary cancer and child wish, which details reproductive options (e.g. natural conception without genetic testing, prenatal diagnostic testing and preimplantation genetic diagnosis) and supports couples in their decision making. This DA has been proven effective in increasing the quality of the decision making process and is highly valued by the target population and involved health care professionals. The existing DA has been tailored to the oncogenetic setting. As reproductive motives and informational needs are likely to vary considerably between types of genetic conditions (e.g. based on transmission patterns, time of onset of the disease, lethality, etc.), we currently only reach and support the oncogenetic subpopulation of patients and counselees. In this project we therefore propose to adapt and extend the DA prototype to fit the needs of the overall target population of couples at risk of transmitting a genetic disease, i.e. all couples of whom one of the partners has an (autosomal) dominant hereditary condition, couples of whom one or both partners are carrier of an X linked respectively the same autosomal recessive condition or are carrier of a structural chromosome aberration (i.e. carrier couples). In the current project, a systematic development and evaluation plan will be implemented in order to optimize the impact of the DA by increasing its reach and effectiveness. After the assembly of a multidisciplinary steering group, three explorative studies will be conducted to extend current knowledge on reproductive motives and considerations of carrier couples and their specific informational and support needs. Furthermore, health care professionals involved in the counseling and care of these couples will provide their views regarding informational content and applications relevant for incorporation in the DA, as well as their ideas and expected barriers and facilitators for implementation. The already existing DA will be thoroughly adapted and extended based on the findings from these studies, after which the prototype DA will be subjected to comprehensive alpha (usability) and beta (pilot) testing. The immediate, short- and long-term effects of the resulting final DA will be evaluated in a nation-wide multi-center randomized controlled trial among 128 carrier couples (N=256) in a continued collaboration of the genetic centers of all Dutch university medical centers. In the last phase of this project, national implementation of the DA will be prepared. By structural implementation in preconception and genetic counseling guidelines, awareness and knowledge of the full range of reproductive options will be optimized in a timely manner, thereby fostering informed decision making in this unique target group. Although our primary aim is to optimize informed decision making, we expect that the increased awareness of reproductive options due to structural implementation of the DA will lead to an overall increase in the uptake of reproductive options that can prevent the birth of children with genetic disorders.