Abstract
Through carrier screening couples at-risk of conceiving a child with an autosomal recessive or X-linked condition can be identified prior to conception. The aim of this study was to assess knowledge, attitudes and preferences regarding reproductive genetic carrier screening (RGCS) among reproductive-aged men and women in Flanders (Belgium). Women and men of reproductive age visiting their pharmacist were invited to answer a self-administered questionnaire. Prior to filling in the questionnaire, participants were asked to read an information leaflet explaining some key concepts about RGCS. Our sample included 387 individuals of reproductive age, of which 68.5% were female and 31.5% were male. Most of the participants were below 34 years old (72.9%), didn’t have children (68.6%) and were currently in a relationship (69.1%). Offering RGCS to couples that want to have children was found acceptable by 86% of participants. However, fewer participants would consider RGCS for themselves in the future (61%). We observed a positive correlation between attitude score/knowledge score and the intention to have RGCS. Half of the participants (50.9%) preferred the disclosure of individual test results. Most of participants indicated that RGCS should be offered through the gynecologist (81.1%), followed by the GP (71.5%) and the Centre for Human Genetics (64.8%). About 68.9% of participants were willing to pay out-of-pocket for an RGCS test. We recommend that RGCS should ideally be implemented through a tailored implementation strategy whereby individual needs and preferences can be taken into account.
Subject terms: Genetic counselling, Human behaviour, Medical genomics, Medical ethics, Patient education
Introduction
In this article we will use the term ‘couple(s)’ to describe a broad range of family structures with a desire to have children. The phrasing ‘couple’ refers to the genetic parents of the pregnancy or intended pregnancy.
Through reproductive genetic carrier screening (RGCS) it can be determined if a couple has an increased reproductive risk to conceive a child that might develop a recessive condition screened for. At-risk couples can consider multiple reproductive options, including accepting their reproductive risk and proceeding with a natural pregnancy, deciding against having biological children together with their partner, prenatal diagnosis (possibly followed by pregnancy termination if the unborn child is affected), undergoing IVF/ICSI with pre-implantation genetic testing for monogenic conditions (PGT-M), using donor gametes or adoption/being a foster parent [1]. Most children with recessive conditions are born to parents who are unaware of their own carrier status [1, 2]. In an Australian study by Archibald et al., 88% of identified carriers had no family history of the condition [3]. These findings emphasize the importance to not solely rely on family history to guide screening decisions.
The current variability in screening programs around the world can be explained by multiple factors like variation in carrier frequency of genetic conditions, differences in health care systems, financial, cultural or religious factors [4]. Most often RGCS has been made available for those able to pay out-of-pocket, but some countries also have government-funded screening programs. For example in Israel, the whole population is eligible for a carrier screening program, which includes screening for CF, SMA and FXS. Based on the ethnicity of the couple additional carrier-screening tests are also being offered. While in the Netherlands, RGCS is available to interested couples on a fee for service basis with a partial reimbursement by health insurance for high-risk couples like consanguineous couples. A government-funded trial of reproductive carrier screening is currently running in Australia where the objective is to assess the feasibility of a national government-funded screening program [4].
While new genomic technologies allow screening for an ever-increasing number of disease-causing variants, many ethical, legal and social questions still remain unanswered.
Implementation of new research findings/technologies into healthcare can be complex and challenging. Evidence-based strategies are required to ensure the implementation of evidence into practice. Opinions on the harms and benefits with regard to RGCS might differ between different stakeholders. It is important to explore the perspectives of all stakeholders involved and especially with the general public in order to achieve a responsible implementation of RGCS. More reliable evidence on the views and/or perceptions of the public would help to establish interventions that strengthen reproductive choices [5, 6]. We already carried out an online survey study to assess the perspectives of non-pregnant reproductive-aged women in Flanders (Belgium) with regard to RGCS. The results of this previous study have been published elsewhere [7]. Almost half (49%) of the study participants within this study showed a positive attitude towards RGCS and most of them (83%) found it acceptable to offer RGCS to couples that want to have children. A large proportion (64%) of these participants also indicated that they would consider RGCS in the future [7]. Our attempt to reach a broad and diverse population however didn’t turn out as we had hoped. Unfortunately this resulted in a small study sample of highly educated women. To ascertain if the observed trends also apply to a broader and more diverse population we decided to repeat the study with a modified recruitment approach.
Materials and methods
Men and women of reproductive age (18–49 years old) visiting their pharmacist were invited to answer a self-administered questionnaire. Based on our sample size calculation we aimed to collect 385 completed questionnaires. Data collection was carried out between September 2019 and December 2019 by multiple researchers (EVS, HD, IG, SVE) who personally approached participants with the question whether they had time to complete a questionnaire in five different pharmacies throughout Flanders (Belgium). Participants were approached after they had met with their pharmacist.
Prior to filling in the questionnaire, participants were asked to read an information leaflet explaining some key concepts. The questionnaire that had to be completed within the pharmacy took ~15 min to fill in.
Survey instrument
The questionnaire included items or scales measuring perceived susceptibility of being a carrier/conceiving a child with a hereditary condition, acceptability of offering RGCS, intention to participate in RGCS, ethical reflections, knowledge of RGCS, attitudes towards RGCS and preferences for the practical organization of a population-based RGCS offer. The questionnaire used in this study has been described in detail elsewhere [7].
Data analyses
Statistical analyses were performed using IBM SPSS® Statistics 27 for Windows. Descriptive analyses were used to describe characteristics. To ensure meaningful comparison across groups we dichotomized all sociodemographic variables [7]. Non-parametric statistical tests (Chi-Square test of independence; Fisher’s Exact test (2 × 2 tables) or a Fisher-Freeman-Holton (r x c tables); Mann–Whitney U test) were used to compare differences between independent groups. For non-identical distributions, statistically significant differences in the mean ranks of the dependent variable in terms of the two groups were determined. A two-sided p-value <0.05 was considered statistically significant. Finally, we used the Spearman’s rank-order correlation to determine whether there was an association between our continuous/ordinal variables.
Knowledge and attitude scale
Reliability of the knowledge and attitude scales were assessed using Cronbach’s alpha (Table 1). The alpha coefficient for the attitude scale indicated good internal reliability (5 items, α = 0.889). The reliability analyses for the knowledge scale showed a lower internal reliability (14 items, α = 0.729) [8].
Table 1.
Internal reliability analyses of knowledge and attitude scale.
| Measure | Description | Items | Reliability | Range | Cutoff | Mean (SD) | Outcome |
|---|---|---|---|---|---|---|---|
| Knowledge scale | Knowledge of ECS | 14 questions (True/False/I don’t know) | 0.729a | 0–14 | 0–4 = Low knowledge; 5–9 = Moderate knowledge; 10–14 = High knowledge | 10.61 (2.61) | Low knowledge = 2.2%; Moderate knowledge = 26.3%; High knowledge = 71.5% |
| Attitude scale | Attitudes towards having ECS | Five bipolar words pairs (5-point Likert scale) | 0.889b | 5–25 | 5–11 = Negative attitude; 12–18 = Neutral attitude;19–25 = Positive attitude | 18.15 (4.82) | Negative attitude = 10.6%; Neutral attitude = 40.4%; Positive attitude = 49% |
aRemoving knowledge item 5 would result in a slightly higher Cronbach’s Alpha (13 items, α = 0.739).
bRemoving attitude item 4 would have resulted in a slightly higher Cronbach’s Alpha (4 items, α = 0.892). We decided against removal of these items because of the minimal differences in scores.
Results
Socio-demographic
In total, 409 individuals completed the self-administered questionnaire. Data from 22 participants were excluded from further analysis because they didn’t meet the age inclusion criteria. Our sample included 387 individuals of reproductive age (18–49), of which 68.5% were female and 31.5% were male. Most participants were between 18 and 34 years old (72.9%). A minority of participants held a university degree (29.1%) and stated to be religious (32.9%; n = 127) of which 66.7% (n = 84/127) stated to not be actively involved in their religion. A majority of participants didn’t have children (68.6%) and were in a relationship (69.1%; n = 266) of which 52.1% intended to have a child in the future (n = 138/266). Three women within our sample were pregnant (0.8%). Merely 7% of our participants had had a genetic consult in the past (see Supplementary Material). Study participants were significantly older (p = 0.009), had a lower level of completed education (p < 0.001) and were less likely to want children (p = 0.019) compared to the study sample of our previous published survey [7].
Perceived susceptibility (risk perception)
Half (53.6%) of our study sample perceived their risk of being a carrier of a hereditary condition to be low-very low, while 22.5% perceived a high-very high risk. In addition, only one out of ten participants estimated their risk of conceiving a child with a hereditary condition to be high-very high (Table 2). Participants who already had children (mean rank = 176.25) estimated their chance of being a carrier of a hereditary condition to be lower compared to participants who didn’t have children (mean rank = 199.98) (p = 0.044). While those expressing a desire to have children in the future (mean rank = 141.53) estimated their risk to conceive a child with a hereditary condition to be higher compared to those who were unsure or did not intend to have children (mean rank = 123.73) (p = 0.047). Those who already had had a genetic consult in the past estimated their chance of being a carrier for a hereditary condition higher (mean rank = 241.46) compared to those who didn’t have a genetic consult (mean rank = 189.34) (p = 0.015). In addition, this specific group also estimated their chance of conceiving a child with a hereditary condition to be higher (mean rank = 226.28) (p < 0.001) (see Supplementary Material).
Table 2.
Perceived susceptibility, acceptability and intention to participate in RGCS.
| N (%) | ||||
|---|---|---|---|---|
| Perceived susceptibility of being a carrier of a hereditary condition (n = 386) | ||||
| Very low | Low | Average | High | Very high |
| 75 (19.4) | 132 (34.2) | 92 (23.8) | 54 (14) | 33 (8.5) |
| Perceived susceptibility of conceiving a child with a hereditary condition (n = 386) | ||||
| Very low | Low | Average | High | Very high |
| 100 (25.9) | 150 (38.9) | 90 (23.3) | 34 (8.8) | 12 (3.1) |
| Acceptability of offering RGCS to couples with a child wish (n = 387) | ||||
| Totally unacceptable | Unacceptable | Neutral | Acceptable | Totally acceptable |
| 2 (0.5) | 8 (2.1) | 44 (11.4) | 144 (37.2) | 189 (48.8) |
| Intention to participate in RGCS (n = 387) | ||||
| Definitely will not consider | Probably will not consider | Undecided | Probably will consider | Definitely will consider |
| 27 (7) | 40 (10.3) | 84 (21.7) | 105 (27.1) | 131 (33.9) |
Acceptability and Intention to participate in RGCS
Most participants considered RGCS for couples with a desire to have children to be acceptable-totally acceptable (86%). A small proportion of our study sample judged it to be unacceptable-totally unacceptable (2.6%) while other participants had a neutral opinion (11.4 %) (Table 2). Participants who stated not to be religious (mean rank = 201.25; p = 0.032), who were married or living together with their partner (mean rank = 139.16; p = 0.034) and who had had a genetic consult in the past (mean rank = 245.98; p = 0.005) rated offering RGCS to couples with a desire to have children to be more acceptable (see Supplementary material). Six out of ten participants (61%) within our study sample would definitely or probably consider participating in RGCS in the future while 17.3% would definitely or probably not consider it. About a fifth (21.7%) of our participants were still undecided about their intention to participate in RGCS (Table 2). Participants who were between the ages of 18 and 34 (mean rank = 207.61, p < 0.001), who didn’t have children (mean rank = 201.73; p = 0.018), who clearly expressed a desire to have children in the future (mean rank = 142.09; p = 0.037) and those who had had a genetic consult in the past (mean rank = 265.19; p < 0.001) were more likely to consider participation in RGCS in the future (see Supplementary material).
Knowledge
The mean knowledge score of our participants was 9.6 (SD 2.61, IQR 8–12). We observed a statistically significant higher knowledge score within the young age category (mean rank = 201.4; p = 0.009), females (mean rank = 202.59, p = 0.008), highly educated participants (mean rank = 238.27; p < 0.001), participants who expressed to be not actively involved in their religion (mean rank = 67.51; p = 0.045), those who didn’t have children (mean rank = 200.54; p = 0.017), those who clearly expressed having a desire to have children (mean rank = 142.96, p = 0.014) and participants in a relationship but not living together (mean rank = 151.84; p 0.001) (see Supplementary material). About 1 in 2 (55.2%) of those surveyed answered at least 10 out of 14 knowledge questions correctly which resulted in a high level of knowledge. A minority of participants (4.7%) gave a correct answer to less than five knowledge items and were given a low knowledge level. All other participants (40.1%) had a moderate knowledge level based on our knowledge scale. Individual knowledge questions were answered correctly by 33.9% till 88.3% of participants (Table 3).
Table 3.
Knowledge about RGCS related concepts (n = 384) (Correct answers).
| Knowledge score | ||||
|---|---|---|---|---|
| Mean (SD) | 9.6 (2.74) | |||
| IQR | 8–12 | |||
| Range | 0–14 | |||
| Level of genetic knowledge | N (%) | |||
| Low | 18 (4.7) | |||
| Moderate | 154 (40.1) | |||
| High | 212 (55.2) | |||
| True N (%) | False N (%) | I don’t know N (%) | ||
| 1 | A carrier of an hereditary condition carries a mutation for that condition but does not have the condition himself/herself. | 299 (78.1) | 37 (9.7) | 47 (12.3) |
| 2 | All serious conditions are determined by a genetic predisposition. | 22 (5.7) | 321 (83.3) | 40 (10.4) |
| 3 | All hereditary conditions are expressed during childhood (<18 years). | 12 (3.1) | 313 (81.7) | 58 (15.1) |
| 4 | A carrier screening test examines if you are at risk for developing one or more hereditary conditions. | 135 (35.3) | 174 (45.5) | 73 (19.1) |
| 5 | Genetic carrier screening is only intended for individuals with an increased family risk (families where genetic conditions have already occured). | 90 (23.6) | 221 (58) | 70 (18.4) |
| 6 | You can be a carrier of a hereditary condition without this condition occuring in your own family | 270 (70.3) | 56 (14.6) | 58 (15.1) |
| 7 | A carrier of a hereditary condition will always develop that specific condition and get related health problems. | 9 (2.3) | 339 (88.3) | 36 (9.4) |
| 8 | If you are a carrier of a hereditary condition, all your offspring will also be a carrier of that specific hereditary condition. | 19 (5) | 337 (88) | 27 (7) |
| 9 | If the (future) mother is a carrier of a recessive hereditary condition, all her children will develop this condition. | 7 (1.8) | 288 (75.2) | 88 (23) |
| 10 | If both partners are carriers of a mutation for the same recessive hereditary condition, they a 50% chance each pregnancy to conceive a child with the condition for which they are carriers | 147 (38.3) | 141 (36.7) | 96 (25) |
| 11 | If both partners are carriers of a mutation for a different recessive hereditary condition, they have a 25% chance each pregnancy to conceive a child with one of both condition. | 94 (24.5) | 130 (33.9) | 159 (41.5) |
| 12 | Two healthy individuals without health problems can have a child with an inherited condition. | 315 (82) | 23 (6) | 46 (12) |
| 13 | When a preconceptional genetic carrier screening test does not identify an increased risk, this means with certainty that this couple will have a healthy child. | 17 (4.4) | 308 (80.4) | 58 (15.1) |
| 14 | If both partners are carriers of the same genetic condition, they cannot conceive children naturally without this specific genetic condition. | 24 (6.3) | 251 (65.5) | 108 (28.2) |
Values in italic shown is correct answers.
Attitudes
The mean attitude score among our study participants was 18 (SD 4.49, IQR 15–21). Participants who stated to be religious (mean rank = 176.78; p = 0.039) and those who didn’t have a genetic consult in the past (mean rank = 186.75; p < 0,001) had a significantly lower attitude score. Almost half of our study sample (47.5%) had a positive attitude towards RGCS, 43.9% had a neutral attitude and 8.5% had a negative attitude. Most individuals surveyed within this study found RGCS for themselves to be beneficial (64.3%), important (51%), a good thing (61.9%), reassuring (54.5%) and desirable (46.6%) while others stated it would be harmful (7%), unimportant (18.7%), a bad thing (8.2%), not reassuring (23.3%) and undesirable (18.7%). The pressure on future parents to have preconception RGCS will become great according to 51.4% of our participants. Others (28.2%) had a neutral opinion regarding this statement and 20.4% stated that this would probably or definitely not be the case. We observed that religious participants (mean rank = 209.94; p = 0.035) tended to agree more with this pressure statement in comparison to those who weren’t religious (mean rank = 185.44). In addition, 48% of participants stated that carrier screening will probably or definitely lead to greater anxiety among couples who want to become pregnant while 27.7% believed that this would probably or definitely not be the case. Another 24.3% indicated to have a more neutral opinion. Finally, 24% of those surveyed believed that carrier screening would probably or definitely make the lives of people living with these conditions seem inferior while 53.7% stated this would probably or definitely not be the case. One in five participants had a neutral opinion regarding this latest statement (Table 4).
Table 4.
Attitudes towards RGCS and preferences for the practical organization of a population-based RGCS offer.
| Attitude score (n = 387) | ||||||
|---|---|---|---|---|---|---|
| Mean (SD) | 18 (4.49) | |||||
| IQR | 15–21 | |||||
| Range | 5–25 | |||||
| Attitude groups (n = 387) | N (%) | |||||
| Negative attitude | 33 (8.5) | |||||
| Neutral attitude | 170 (43.9) | |||||
| Positive attitude | 184 (47.5) | |||||
| Attitude scale (n = 387) | ||||||
| N (%) | ||||||
| Harmful | 7 (1.8) | 20 (5.2) | 111 (28.7) | 141 (36.4) | 108 (27.9) | Beneficial |
| Unimportant | 27 (7) | 45 (11.7) | 117 (30.3) | 115 (29.8) | 82 (21.2) | Important |
| Bad thing | 11 (2.8) | 21 (5.4) | 115 (29.8) | 143 (37) | 96 (24.9) | Good thing |
| Not reassuring | 20 (5.2) | 50 (12.9) | 106 (27.4) | 101 (26.1) | 110 (28.4) | Reassuring |
| Undesirable | 23 (6) | 49 (12.7) | 134 (34.7) | 100 (25.9) | 80 (20.7) | Desirable |
| Attitude statements | ||||||
| N (%) | ||||||
| Pressure (n = 387) | ||||||
| Definitely not | Probably not | Neutral | Probably yes | Definitely yes | ||
| 15 (3.9) | 64 (16.5) | 109 (28.2) | 140 (36.2) | 59 (15.2) | ||
| Anxiety/worry (n = 387) | ||||||
| Definitely not | Probably not | Neutral | Probably yes | Definitely yes | ||
| 29 (7.5) | 78 (20.2) | 94 (24.3) | 134 (34.6) | 52 (13.4) | ||
| Inferiority (n = 387) | ||||||
| Definitely not | Probably not | Neutral | Probably yes | Definitely yes | ||
| 83 (21.4) | 125 (32.3) | 86 (22.2) | 76 (19.6) | 17 (4.4) | ||
Preferences
Most participants believed that RGCS should be made available through the gynaecologist (80.9%) followed by the general practitioner (71.3%) and the centre for human genetics (Reference Centre for Genetic Counseling in Belgium) (64.6%). A small share of those surveyed stated that RGCS should be available through the pharmacist (17.1%), the midwife (17.6%), the internet (3.9%) or the school system (3.1%). The gynaecologist was more often chosen by female participants (84.9%) compared to males (72.17%) (p = 0.003) while the GP was more often chosen by males (79.5%) compared to females (67.5%) (p = 0.016). In addition, the GP was also more often chosen by low/intermediate educated individuals (74.4%) compared to highly educated participants (63.4%) (p = 0.031) (see Supplementary material).
About 41.1% of participants indicated to prefer to have a free choice in the number of conditions screened for while another 36.8% of participants gave preference to the same fixed list of conditions for everyone who opts to have RGCS. The remaining 22.1% would prefer to be able to choose between categories of conditions. Within our study sample most individuals preferred to receive individual test results (50.9%). Another 35.2% of participants indicated to prefer to receive couple-based test results. A small proportion of participants (13.9%) stated to have no preference on how test results would be reported back to them. Our analysis showed a significant association between the preferences of results reporting and the relationship status of our participants. Those who weren’t in a relationship had a higher preference for individual test results (59.8%) compared to those participants who were in a relationship (46.9%) (χ2[2] = 10.769, p = 0.005) (see Supplementary material).
Most participants (68.9%) were willing to pay for RGCS out-of-pocket, 21% were not sure if they would be and 10.1% indicated they wouldn’t be willing to pay for RGCS themselves. Of those willing to pay, 45.3% would be willing to pay up to 150 euro, 40% would be willing to pay between 151 and 300 euro and 14.7% would be willing to more than 300 euro (Table 4). We observed that highly educated study participants (80.4%) were more often willing to pay compared to individuals with a low/intermediate education level (64.3) (χ2[2] = 10.11, p = 0.006). Our data also indicate that individuals with a low/intermediate education level (24.6%) were more uncertain if they would be willing to pay themselves for RGCS compared to highly educated individuals (11.6%). In addition, we found that study participants in a relationship (73.6%) more often showed the willingness to pay for RGCS compared to those who weren’t in a relationship (58.8%) (χ2[2] = 14.132, p = 0.001). Lastly, religious individuals who stated to be actively involved in their religion were willing to pay less. Within this group 68% would be willing to pay a maximum of 150 euro compared to 32,8% of religious individuals who stated to not be actively involved in their religion (χ2[2] = 8.905, p = 0.012) (see supplementary material).
Associations between continuous/ordinal variables
A Spearman’s rank-order correlation was run and showed there was a positive relationship between the intention to have RGCS and the acceptability to offer RGCS to couples with a desire to have children (rs = 0.445, p < 0.001). In addition, the intention to have RGCS was also positively related to the perceived susceptibility of being a carrier (rs = 0.226, p < 001), the perceived susceptibility of conceiving a child with a hereditary condition (rs = 0.158, p = 0.002) and the conviction that the pressure on future parents to have preconception RGCS will become great (rs = 0.103, p = 0.042). In contrast, the intention to have RGCS was negatively correlated with the belief that RGCS would lead to greater anxiety among couples who want to become pregnant (rs = −0.102, p = 0.044) and the belief that RGCS would make the lives of people living with these conditions seem inferior (rs = −0.110, p = 0.031).
We observed a statistically significant, positive correlation between attitude score and the risk perception of being a carrier (rs = 0.123, p = 0.015), the perceived risk of conceiving a child with a hereditary condition (rs = 0.119, p = 0.019), the acceptability of offering RGCS (rs = 0.471, p < 0.001) and the intention to have RGCS (rs = 0.712, p < 0.001). The higher the attitude score, the more participants agreed with the statement that the pressure on future parents to have preconception RGCS will become great (rs = 0.106, p = 0.038). In contrast, the higher the attitude score the more they disagreed with the statements that RGCS would lead to greater anxiety among couples who want to become pregnant (rs = −0.186, p < 0.001) and that carrier screening would make the lives of people living with these conditions seem inferior (rs = −0.136, p = 0.007).
There was a statistically significant, positive correlation between the calculated knowledge score and the risk perception of being a carrier (rs = 0.198, p < 0.001), the perceived susceptibility of conceiving a child with a hereditary condition (rs = 0.101, p = 0.048), the acceptability of offering RGCS to couples with a desire to have children (rs = 0.135, p = 0.008) and the intention to have RGCS (rs = 0.119, p = 0.019).
Within our study sample the acceptability of RGCS was negatively correlated with the opinion that RGCS would lead to greater anxiety among couples who want to become pregnant (rs = −0.195, p < 0.001) and the belief that RGCS would make the lives of people living with these conditions seem inferior (rs = −0.172, p = 0.001). Furthermore, the higher participants estimated their risk of being a carrier the higher they estimated their risk of conceiving a child with a hereditary condition (rs = 0.672, p < 0.001) and the more they agreed to the statement that RGCS would lead to greater anxiety among couples who want to become pregnant (rs = 0.138, p = 0.007). The more participants were worried that offering RGCS would make the lives of people living with these conditions seem inferior, the more they agreed with statements on pressure (rs = 0.253, p < 0.001) and anxiety (rs = 0.368, p < 0.001). Likewise, we found a positive association between the answers on the pressure and anxiety statements (rs = 0.188, p < 0.001).
Discussion
This study aimed to assess if earlier observations and trends on the perspectives of highly educated nonpregnant reproductive-aged women in Flanders (Belgium) would also apply to a broad and more diverse population [7]. Compared to our earlier published study participants were significantly older, had a lower level of completed education and were less likely to want children [7]. Yet, highly educated individuals had once more significantly higher knowledge scores and were more willing to pay out-of-pocket. Within the study of van Dijke et al. [9]—where couples’ experiences with RGCS were evaluated—uninformed choice to have RGCS was mainly explained because of poor knowledge levels. These results indicate the possible impact of knowledge on reproductive decision-making. Within our study, we also found a positive correlation between the calculated knowledge score and the intention to have RGCS. As there is no golden standard to measure knowledge on RGCS or an objective way of defining sufficient knowledge on RGCS, it could also be beneficial to also focus on self-reported knowledge of individuals within the target population by assessing the perception of their own knowledge level. This could give possible insights whether people feel like they have enough knowledge to make an informed decision to accept or decline an RGCS offer.
Furthermore, we saw a confirmation of the earlier finding that participants with children estimated their risk of being a carrier to be lower compared to those without children and were also less likely to consider participation in RGCS in the future. To avoid the misconception that RGCS is only of relevance for first-time parents, pre-test counseling initiatives should underline the fact that we are all carriers of recessive genetic conditions [10] and that the reproductive risk of carrier couples to conceive a child with a hereditary condition is present within each pregnancy. The main objective of doing so is of course not to put pressure on parents or to make them worry but rather to empower them to make informed reproductive decisions based on accurate information.
Within this study we also surveyed men of reproductive age which allowed us to explore possible differences between both sexes. Our comparative analysis showed for example that the majority of the women in our study sample indicated that RGCS should be available through the gynecologist while the majority of the male participants preferred the general practitioner. In addition, we observed also better knowledge score amongst female participants. We would like to advocate that future research projects and interventions with regard to RGCS should not merely focus on females or pregnant women. As men play an essential role in reproduction, they should be acknowledged as equal partners in reproductive decision-making. Research shows that preconception health interventions and messages focus mainly on women. This contributes to the normative belief that women have a greater responsibility when it comes to pregnancy/childbearing [11]. The current lack of information about men’s views supports the idea that men are secondary to reproduction [12]. If we want couples to make informed reproductive decisions together we have to take into account the way in which decisions are made and the context that influences them [13]. It is therefore important to note that men also matter in the pre- and peri-conception window [12].
While it is often mentioned that offering an expanded (gene) panel instead of a ancestry-based (limited gene) panel for high-risk groups could achieve more equity of access to screening, attention should be given to equal access when individuals have to pay out of pocket. An Australian study by Robsen et al. [14] found a strong socioeconomic gradient in the uptake of RGCS, with those living in the most advantages areas across Australia being more likely to have RGCS compared to those living in the most disadvantaged areas. The authors highlight the important problem that could arise when those with the fewest resources to care for an affected child are least likely to access RGCS [14]. Reimbursement of test costs should therefore be considered to minimalize social and financial barriers that could limit equal access.
Consistent with our previously published results, participants who had had a genetic consult in the past had a higher risk perception of being a carrier/conceiving a child with a hereditary condition and expressed more positive attitudes towards RGCS. In addition, this time around our results also showed that these individuals assessed offering RGCS to couples with a desire to have children to be more acceptable and were more likely to have the intention to participate in RGCS. These findings are in line with the results of a Dutch study by Nijmeijer et al. [15] in which relatives of patients with the severe autosomal recessive (AR) condition mucopolysaccharidosis type III (MPS III) were questioned regarding their attitudes toward preconception RGCS. Within this study being a parent or relative of an MPS III patient was the strongest variable associated with the intention to have RGCS. These results may indicate a possible influence from the knowledge gained through the experience of a genetic consult. The authors emphasize however that health care providers should not assume that people with experiential knowledge of a particular AR genetic condition will automatically have a better understanding of the risk of being a carrier for other genetic conditions given the fact that the most cited reason to decline RGCS was no family history for other AR conditions [15].
Our study findings highlight the possible influence of certain factors such as gender, having children, etc. Therefore we believe that RGCS should ideally be implemented through a tailored implementation strategy where individual needs and preferences can be taken into account. For example, attention can be given to making the offer available in such a way that everyone can be informed about the existence of the screening offer. For the healthcare setting in Flanders (Belgium) this could mean to offer RGCS through multiple health care providers. This could be done by gynecologists and general practitioners who are actively involved in guiding families planning a pregnancy and pregnant women. But information about RGCS could also be given through for example pediatricians who are in close contact with young parents to avoid the misconception that RGCS is only of relevance for first-time parents. In addition, reimbursement of test costs could be considered to improve equal access.
Study limitations
Our study employed convenience sampling to recruit participants, therefore our reported results should be interpreted with caution. Another limitation of our study is that we didn’t offer an actual RGCS-test to participants so some results are only hypothetical. Actual participation might differ from the intention to do a behavior.
Conclusion
We observed a positive correlation between attitude score/knowledge score and the intention to have RGCS. Furthermore our results indicate a possible influence of certain socio-demographic factors such as gender, education level, having children, etc. on the knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women. Based on our study findings we recommend to implement RGCS through a tailored implementation strategy where individual needs and preferences can be taken into account.
Supplementary information
Acknowledgements
The authors would like to express their gratitude to all pharmacies throughout Flanders that allowed our research team to recruit potential participants in their pharmacies. Furthermore they would like to thank all participants that took a moment of their time to complete our questionnaire.
Author contributions
EVS, HD, IG, SVE and PB designed the study. The data-collection was carried out by HD, IG, SVE and EVS. The data-analysis was performed by EVS. A first draft of the manuscript was written by EVS and critically discussed and revised by HD, IG, SVE, PB, HP, KP and GM. PB coordinated the study. All the authors have approved the final version.
Funding
This project was financially supported by the Research Fund Flanders (FWO).
Data availability
All data generated or analysed during this study are included in this published article [and its supplementary information files].
Competing interests
The authors declare no competing interests.
Ethical approval
The study protocol received ethical approval from the Research Ethics Committee UZ/KU Leuven (MP010414). The questionnaire was anonymous and participation was voluntary.
Footnotes
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary information
The online version contains supplementary material available at 10.1038/s41431-022-01082-1.
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Supplementary Materials
Data Availability Statement
All data generated or analysed during this study are included in this published article [and its supplementary information files].