Hereditary diseases and child wish: exploring motives, considerations, and the (joint) decision-making process of genetically at-risk couples

Abstract

Couples who are at risk of transmitting a genetic disease to their offspring may face difficult challenges regarding reproductive decision-making. Deciding if, and how, to purse their child wish can be a demanding process. This study aims to describe the reproductive joint decision-making process of genetically at-risk couples. A qualitative study was conducted with 16 couples (N=31) at risk of transmitting a genetic disease to their offspring and who received genetic counseling. Most couples were not aware of all available reproductive options in the Netherlands. A variety of motives was reported with almost all couples expressing a preference towards a reproductive option in which the child is genetically related to both parents. Only a few couples considered other options such as the use of donor gametes, adoption, and foster parenting. All couples indicated that they had multiple conversations to reach a mutually supported reproductive decision. Several carriers reported feelings of guilt and in some couples, the woman appeared to have a greater impact in the decision-making process as she should carry a pregnancy and should undergo medical treatments. This study provides insight in the extensive decision-making process of genetically at-risk couples and the role of both partners in this process. These findings can guide the development of genetic counseling (e.g., increase awareness of available reproductive options) and decision support for these couples.

The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study

“…For instance, almost half of the participants indicated that they believe that the opinion and preferences of the woman are more important in the decision‐making process because she will be more affected by the psychological and physical burden. This is in line with previous studies in which women appeared to have a more important vote regarding reproductive decisions than men (Hollander et al, 2020 ; Lindgren et al, 2017 ; Severijns, de Die‐Smulders, et al, 2021 ).…”

“…We believe it is important to focus on both partners because in previous studies, men expressed the desire to be treated as a couple by health care professional and that they want to be involved in the decision‐making process regarding reproductive decisions (Hollander et al, 2020 ; Williams et al, 2011 ). Currently, many DAs do not focus or involve the partner in decision support (Severijns et al, 2021 ). Therefore, we aim to involve both partners in our DA and explore the effects of this involvement.…”

“…Participants can select and compare the different reproductive options. Value Clarification Method (VCM) ‐ A VCM that presents users with 17 statements representing important values and motives related to reproductive decision‐making and the different reproductive options is included. The content of the VCM is based on motives and considerations derived from previous studies (Derks‐Smeets et al, 2014; Severijns, de Die‐Smulders, et al, 2021; van Rij et al, 2011). An example is: “ For me it is important to be able to conceive naturally, even if there is a risk that my child will inherit the disease .” Users are asked to answer all statements on a 6‐point scale ranging from completely disagree [1] to completely agree [6] or not applicable.…”

“…Couples with an increased risk of offspring affected with a genetic disorder may face an additional question, namely which reproductive option to choose (De Die‐Smulders et al, 2013 ). Most couples prefer to have a genetically related child (Severijns, de Die‐Smulders, et al, 2021 ). Options for them are a natural conception with prenatal diagnosis (PND), or preimplantation genetic testing (PGT) or no genetic testing, thereby accepting the risk of transmitting the genetic disease to their child(ren).…”

BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)

“…Couples often experienced this reproductive decision-making process as difficult and decided not to have children because of BRCA transmission risk [ 24 , 34 ]. In fact, fear and concern of transmitting the pathogenetic variant to the offspring are high [ 11 ], especially for the perception of passing “much more than a gene,” as the pathogenetic variant may imply frequent surveillance programs and the possibility of getting sick and suffering [ 11 , 39 ]. In other cases, the couples experienced that they were under pressure to have children as soon as possible, accelerating their projects [ 19 , 28 ], due to the possibility of preventive surgery; in fact, the higher the woman’s age, the higher the advice to undergo an ovariectomy [ 3 ].…”