REPRODUCTIVE GENETIC CARRIER SCREENING FOR MONOGENIC CONDITIONS: FACILITATING INFORMED CHOICE AND DECISION-MAKING

Reproductive genetic carrier screening (RGCS) allows to identify couples with an increased likelihood of conceiving a child with an autosomal recessive (AR) or X-linked condition. Information gained through RGCS can be used to make reproductive choices. The general objective of this research project was to study informed choice and reproductive decision-making with regard to RGCS for expanded test panels of monogenic conditions. Specific objectives were (1) to synthesize evidence from empirical studies that assess the interest in RGCS among individuals and couples in the general population, (2) to gain insights into the potential impact of RGCS on the subsequent reproductive decision-making of at-risk couples, (3) to assess the perceived susceptibility of being a carrier/conceiving a child with a hereditary condition, the acceptability of offering RGCS, the intention to participate in RGCS, knowledge of RGCS, attitudes towards RGCS and preferences for the practical organization of a RGCS offer amongst men and women (of reproductive age) in Flanders (Belgium), (4) to implement and evaluate a RGCS offer in a reproductive context among non-pregnant couples. To meet objective (1) and (2) we performed two systematic reviews of empirical literature following the PRISMA guidelines. In line with objective (3), this dissertation reports the findings of two cross-sectional survey studies on the perspectives of reproductive-aged women and men with regard to RGCS. Finally, we performed a longitudinal survey through a gynecologist practice in Flanders (Belgium) (a) to study the interest of non-pregnant couples in a preconception RGCS offer, (b) to assess the extent to which couples make informed decisions regarding participation in preconception RGCS and (c) to assess the level of satisfaction, anxiety, long-term knowledge retention, psychosocial & counseling related aspects among couples who choose to have reproductive genetic carrier screening. Our results show that there may be discrepancies between prospective parents' reported intentions to undergo RGCS and their actual uptake, particularly during the preconception period. Most couples with an increased likelihood of conceiving a child with an AR or X-linked condition chose reproductive options to reduce the risk of a child affected. Most of our study participants showed positive attitudes towards RGCS and found it acceptable to offer RGCS to couples planning a family. Self-reported intention to have RGCS didn't always translate into actual test-uptake. Within our study where the Belgian RGCS test was offered free of charge to non-pregnant couples from the general population, 53% of women (meeting our study inclusion criteria) who initially showed the intention to have RGCS decided to accept the offer. We observed high rates of informed choice among non-pregnant couples who accepted a free RGCS offer after they were offered up to 30 minutes of pre-test counselling. We recommend that RGCS should ideally be implemented through a tailored implementation strategy whereby individual needs and preferences can be taken into account. Future research should try to assess if high levels of informed choice can also be achieved outside a controlled research context with more limited resources.

Jaar van publicatie:2022

Toegankelijkheid:Open