Article Text

Original article
Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening
1. Royston Ong1,2,
2. Denise Howting1,2,
3. Alethea Rea3,
4. Hayley Christian4,
5. Pauline Charman5,
6. Caron Molster6,
7. Gianina Ravenscroft1,2,
8. Nigel George Laing1,2
1. 1 Centre for Medical Research, Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, Western Australia, Australia
2. 2 QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia
3. 3 Centre for Applied Statistics, University of Western Australia, Perth, Western Australia, Australia
4. 4 School of Population and Global Health, and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia
5. 5 BioDiscovery Centre, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia
6. 6 Department of Health Western Australia, Perth, Western Australia, Australia
1. Correspondence to Dr Nigel George Laing, Centre for Medical Research, Harry Perkins Institute of Medical Research, The University of Western Australia, Perth, WA 6009, Australia; nigel.laing{at}uwa.edu.au

## Abstract

Background Preconception carrier screening (PCS) provides the potential to empower couples to make reproductive choices before having an affected child. An important question is what factors influence the decision to use or not use PCS.

Methods We analysed the relationship between knowledge, attitudes and intentions to participate in PCS using logistic regression in 832 participants in Western Australia.

Results Two-thirds of participants said they would take the test, with 92% of these supporting screening for diseases reducing the lifespan of children and infants. Those who had good genetic knowledge were seven times more likely to intend to use PCS (p≤0.001), while those with high genetic knowledge were four times more likely to (p=0.002) and raised concerns such as insurance and confidentiality.

Decreasing genetic knowledge correlated positively with religiosity and apprehension (p≤0.001), which correlated negatively with intention to use PCS (p≤0.001). Increasing genetic knowledge correlated positively with factors representing positive attitudes (p≤0.001), which correlated positively with intention to use PCS (p≤0.001). Many participants with good genetic knowledge nevertheless answered questions that tested understanding incorrectly.

#### Confounders

Sociodemographic and other potential confounders were included in the online survey and comprised age, gender, location of residence, education level, religiosity or spirituality, individual annual income, relationship status, parenthood experience and intention to be parents (see online supplementary table S3 and S4).

### Data analysis

Descriptive analysis was run to understand participants’ characteristics. Chi-square tests of independence were used to examine the association between intention to take a PCS test and i) sociodemographic and other potential confounders; ii) prior knowledge about the screening programme and iii) genetic knowledge.

Multinomial logistic regression and ordinal logistic regression were used to identify factors associated with intention to take a PCS test and genetic knowledge and attitudes towards PCS. Sociodemographic variables that were significantly associated with intention to take the test were included in each logistic regression analysis.

## Results

### Sociodemographic characteristics

A total of 832 participants completed the survey and 84.5% (n=719) were of reproductive age (defined as 18–44 years of age). There were approximately the same proportion of males and females. More than 36% had completed a university degree. At least 42% of participants had an annual income less than the Western Australian median income of $A52 504 per annum37; indicating that in regard to income, the respondents were a good representation of the Western Australian population. Almost half of the responders were not religious. Most participants (71.3%) were in a relationship, 49.9% were parents and 70.6% of participants reported their intention to become parents (table 2). Table 2 Demographics of study participants and intention groups. Bold values represent statistically significant associations. ### Intention to take a PCS test and follow-up considerations #### Accepting the test Overall, 67.5% (n=562) of participants indicated that they would take the test if PCS was offered to them (table 2). Of these, 92.0% said they would take the test if the diseases screened affected the lifespan of children or infants and 78.8% said they would take the test if the diseases screened for were chronic and required them to be a full-time carer. Sixty per cent said they would take the test if the test screened for adult-onset diseases (table 3A). Of those participants willing to take the test, 79.7% indicated that they would want to access the test through their general practitioner. Most participants (85.4%) reported that they would not access the test and results via the mail and/or online ordering, midwives (81.3%) or gynaecologist or obstetricians (57.8%). Finally, 75.1% reported that they would take the test if it cost <$A200 (table 3A).

Table 3A

Considerations when participants want to take the test

#### Declining the test

Only 10.1% of participants reported that they would decline the PCS test if it were offered to them. A third of these participants had no interest in finding out their genetic information and 28.6% believed that the test would not be useful for them (table 3B).

#### Being unsure about the test

Overall, 22.4% of participants indicated that they were unsure about taking the test if PCS was offered to them. As a follow-up to this question, 67.7% said they would like more information about the diseases tested, 46.8% said they would like more information about the technology used and 43.5% said they would like more information about postscreening options (table 3C).

### Level of genetic knowledge among participants

Most participants (n=645; 77%) correctly answered at least 10 out of the 21 genetic knowledge questions. Two-thirds of participants answered key concepts pertaining to carrier screening correctly (table 1). Participants did not fare well in advanced genetic concepts regarding probability (answered correctly=13%, question 6) and inheritance of mutations (answered correctly=35%, question 13). Almost half of participants correctly answered that their child may still have a genetic disease even if both parents tested negative for the disease. Misconceptions about diseases associated with lifestyle choices were also identified, with 63% thinking that one cannot develop harmful genetic mutations from lifestyle choices and 83% thinking that spina bifida is caused only by genetic mutations (table 1 and online supplementary table S1).

### Factors associated with the intention to take a PCS test

#### Sociodemographic factors

Education level was positively associated with intention to take the test. Those who had completed postschool vocational education were twice as likely to reject the test than take it compared with those who had completed year 12 or equivalent (OR=2.18, 95% CI 1.09 to 4.32, p=0.03) (see online supplementary table S5). Income was also significantly associated with taking the test. Participants who earned an annual income of $A80 000–$A125 000 compared with participants with an annual income of $A0–$A30 000 were two times more likely to take the test (OR=2.27, 95% CI 1.07 to 4.83, p=0.033). Those who were religious, or spiritual were three times more likely to reject the test when compared with those who were not religious or spiritual (OR=3.05, 95% CI 1.06 to 8.83, p=0.039) (see online supplementary table S5). Age, gender, relationship status and intentions of becoming a parent were not significantly associated with taking the test (table 2).

Table 3B

Considerations when participants do not want to take the test

Table 3C

Considerations when participants are unsure about taking the test

#### Prior knowledge and genetic knowledge factors

A third of participants (n=239) had heard about PCS, reflecting prior knowledge or awareness of the screening test. Prior knowledge was shown to be significantly associated with intention to take the PCS test (see online supplementary table S6). Participants who had prior awareness of the test were more likely to either take or reject the test, compared with those who were unsure of their intentions (take the test: OR=2.53, 95% CI 1.65 to 3.89, p≤0.001; reject the test: OR=2.20, 95% CI 1.20 to 4.05, p=0.011) (see online supplementary table S7). Knowing about PCS from family members or searching through the internet were strongly associated with intention to take a PCS test (p≤0.05). Among participants who had heard about the PCS test from family members, 93.2% would take the test compared with 6.8% who were unsure. Similarly, among participants who know the test through internet searches, 91.1% will take the test compared with 8.8% who are unsure (see online supplementary table S6).

The likelihood of an individual accepting the PCS test compared with rejecting it was significantly higher for people who had ‘high’, ‘good’ and ‘some’ genetic knowledge compared with those who had ‘low’ genetic knowledge (all p≤0.05) (tables 4A and online supplementary table S8). The participants who had ‘good’ genetic knowledge were seven times more likely to take the test (OR=7.62, 95% CI 3.04 to 19.14, p=<0.001) while those with ‘high’ genetic knowledge were only four times more likely to take the test (OR=4.15, 95% CI 1.68 to 10.28, p=0.002) (table 4A).

Table 4

Logistic regression with significant associations comparing genetic knowledge, attitudes and taking the test

Intention not to use carrier screening in individuals with ‘high’ genetic knowledge was associated with four concerns: 1) negative impact on my family members, 2) confidentiality of genetic information, 3) discrimination based on genetic result and 4) negative implications to obtain health, life and/or disability insurance (see online supplementary table S9).

#### Attitude factors

Individuals were more likely to take the PCS test than reject it with every one unit increase in the score (ie, from 4 to 5 on the Likert scale) for factor 2 ‘equity of access and empathy’, factor 3 ‘feelings about individuals with a genetic disorder’ and factor 4 ‘test-related concerns’ (all p≤0.001).

Individuals were less likely to take the test with every one unit increase in the score for factor 1 ‘apprehension and religious beliefs’ (OR=0.20, 95% CI 0.13 to 0.32, p≤0.001).

There were also some individuals who were more likely to be unsure about their intentions to take the test rather than rejecting the test with every one unit increase in the feelings about individuals with a genetic disorder score (OR=1.43, 95% CI 1.02 to 2.01, p=0.037) (table 4B).

#### Association between genetic knowledge and attitudes towards PCS

Increases in genetic knowledge (eg, from ‘some’ genetic knowledge to ‘good’ genetic knowledge) were positively correlated with individuals’ scores on the equity of access and empathy factors and test-related concerns factor (OR=2.36, 95% CI 1.96 to 2.84, p≤0.001; OR=2.72, 95% CI 2.19 to 3.39, p≤0.001, respectively) (figure 1).

Figure 1

Distribution of the mean Likert score per factor across different levels of genetic knowledge. The X-axis represents various factors identified in questions related to attitudes. The Y-axis measures the mean Likert score for each factor. Colours represent each of the four levels of genetic knowledge: ‘high’; ‘good’; ‘some’ and ‘low’. Genetic knowledge is measured according to how many genetic questions an individual answered correctly. Error bars indicate SE. The number in parentheses above each bar indicates the mean Likert score of each factor from individuals with a specific genetic knowledge. Likert scores range from 1 to 5 with 1 being strongly disagree and 5 being strongly agree.

Individuals who had ‘high’ genetic knowledge but were less likely to take the test had higher mean scores for statements in attitude factor 1 ‘apprehension about the test and religious beliefs’ compared with those with ‘high’ genetic knowledge who said they intended to use carrier screening. In addition, these individuals also had lower mean scores for statements in attitude factors 2 ‘equity of access and empathy’, 3 ‘feelings about individuals with a genetic disorder’ and 4 ‘test-related concerns’ (see online supplementary table S10).

As genetic knowledge decreased, scores for factor 1 ‘apprehension about the test and religious beliefs’ increased (OR=2.78, 95% CI 2.26 to 3.43, ≤0.001) (table 4C).

## Discussion

Our study identified key factors associated with intention to participate in a PCS programme (see online supplementary figure S1). Higher levels of genetic knowledge correlated significantly with PCS participation, consistent with previous studies.31 32 Of interest is the comparative decrease in intention to participate in a PCS test in participants who had ‘high’ genetic knowledge compared with those with ‘good’ genetic knowledge. Our results show that those who have ‘good’ genetic knowledge were seven times more likely to take the test while individuals with ‘high’ genetic knowledge were only four times more likely to take the test. This finding appears to be explained in part by participants concerns related to: 1) negative impact on my family members, 2) confidentiality of genetic information, 3) discrimination based on genetic result and 4) negative implications to obtain health, life and/or disability insurance. In addition, individuals with ‘high’ genetic knowledge who said they would not take the test scored more highly on factor 1 attitudes ‘apprehension about the test and religious beliefs’ and less highly on attitudes in relation to statements in the other three factors. This indicates that high genetic knowledge has limited influence on certain attitudes.

Issues around privacy and insurance therefore received the most number of responses among those who had ‘high’ levels of genetic knowledge and had no intention of taking the test. Since the introduction of expanded gene panels in screening programmes, similar concerns have been raised and identified in studies among health professionals and communities.6 13 35 38 This has resulted in calls for more transparent methods of ensuring confidentiality and privacy in order to minimise stigmatisation and social discrimination.39 Community education, public campaigns and more extensive pretest and post-test counselling have been suggested as methods to reduce social discrimination. Some authors have suggested that the introduction of an expanded carrier screening programme may reduce social stigma through the ‘universal test’ approach as opposed to targeting a single ethnic group.6

Similarly, genetic discrimination is recognised as an international phenomenon40 and can occur in different types of insurance covers such as health or life insurance.39 As such, legislation including a moratorium or the Oviedo Convention (which prohibits insurance companies from asking for any genetic test results from their applicant) are in place in certain countries, to protect their citizens from genetic discrimination.40 A moratorium temporarily restricting insurers’ use of genetic information exists in Australia and the UK.41 Under the moratorium, insurers cannot request their applicants to undergo a genetic test or request previous results for policies under certain amounts, but applies only to health and not life insurance in Australia. As a result, even though participants in our study may have an understanding that being a carrier does not implicate or have an impact on their health, there is no legal framework in Australia to safeguard and protect consumers against discrimination by life insurance companies. As shown, this fear may reduce intentions to participate in carrier screening programmes. Otlowski et al suggested that continuous monitoring of policies on insurance through any available common metrics and instruments will aid in the comparative studies of long-term impact on individuals, families and the community.40

Previous studies have highlighted that knowledge, attitude and personal values affect informed decision-making.32 42 Consistent with other studies,32 34 35 our data showed that 77.5% of participants had at least ‘good’ genetic knowledge. Highly educated individuals tend to have higher levels of genetic knowledge and a deeper understanding of genetic concepts. However, a proportion of individuals with ‘good’ genetic knowledge answered incorrectly questions that tested understanding (see online supplementary table S11) such as ‘if both members of a couple test negative for a specific disorder, their child may still have a disorder’. These statements reflect core principles in PCS and without a sound understanding, informed decision-making may be compromised. This result suggests that having ‘good’ knowledge may not be sufficient to understand and appreciate core concepts of PCS and may impact the ability to make informed decisions. The community may benefit from a tailored education programme to reduce misconceptions and improve genetic literacy.

Participants who had positive attitudes towards the test tended to agree with statements such as ‘Provides couples with reproductive choices’ or ‘It is difficult for a person with a severe recessive disease to have a very good life’. These individuals were at least twice as likely to take the test, consistent with previous studies showing that positive attitudes towards a screening test generally correlates significantly with participation rates.32 33 Conversely, individuals who were more agreeable to statements such as ‘Is morally unacceptable’ or ‘Will do more harm than good’ were less likely to take the test. These individuals were also more likely to have lower levels of genetic knowledge (table 4C). Similarly, we found that with increasing genetic knowledge, individuals tend to agree more with statements such as ‘Provides couples with reproductive choices’ as well as statements about ‘A post-test consultation with a genetic counsellor would be essential’ (figure 1). However, deeply personal values and beliefs such as "I think it is wrong to knowingly bring a child with a severe recessive disease into the world" and religious values are not influenced by genetic knowledge (table 4C). Our results also show that religious individuals are three time more likely to reject the test than participate. Overall, these findings highlight that increasing genetic knowledge may have a positive effect on certain attitudes, but not personal values and beliefs, which go on to influence participation rates.

We also show that prior knowledge of PCS before taking the test is associated with increased likelihood of participation (p≤0.001) (see online supplementary table S6). Further investigation indicates those who had prior awareness of PCS reported that they would either take the test or reject it (see online supplementary table S7). This conflicting result may suggest that those who will take the test probably have a positive attitude towards the test, perceived susceptibility to the disease or probably want to avoid having an affected child, as studies have suggested.43 Conversely, those who decline the test may feel that they are not at risk, or that a lack of family history is sufficient to convince them that such tests are unnecessary.38 Our results show that who individuals learn about the test from is important. Although numbers are small, if an individual learnt about the test through a family member, none would not take the test (see online supplementary table S6). The high level of intention to participate in those who had heard about PCS from a family member, suggests the social environment is strongly associated with an individual’s intention to participate in PCS and is consistent with other studies examining how an individual’s beliefs about a particular behaviour are influenced by the judgement of significant others (eg, family).44

More than two-thirds of our participants indicated intentions to use a PCS test. Three previous studies have shown about a third of their participants were willing to take the test.2 22 38 The significant increase in media coverage of PCS in Australia in the months prior to the survey45 46 may have raised awareness about PCS testing, and highlighted the benefits of adopting carrier screening before pregnancy. This may have encouraged more participants to consider taking PCS. It was not surprising that most participants in the Netherlands study preferred to access the test through their general practitioner (GP) and trust their opinions, given the strong primary healthcare structure in the Netherlands. Similarly, in Western Australia, almost 80% of our participants preferred to access the test through their GP. Most healthy Australians will see a GP at least annually, whereas interactions with medical specialists (eg, obstetricians) are less frequent. Interestingly, most of our participants rejected all other options including accessing the test through a gynaecologist or obstetrician, or accessing the test and results directly via the mail and/or online ordering. This may suggest confidence in our primary healthcare structure or simply that GPs provide the greatest convenience to the community.

This cross-sectional study provides comprehensive data on key factors affecting intentions to participate and attitudes towards PCS in Western Australia. We show that increased genetic knowledge and a positive attitude to genetic testing are instrumental in influencing intentions to participate and whether those decisions are informed. Concerns surrounding social issues because of screening were also raised.

The study nevertheless has limitations which might bias the findings. The demographics may not fully represent the Western Australian population, although it is indicative of the cohort to whom PCS would be most relevant. As participants could choose whether to participate, self-selection bias may mean that the respondents included an over-representation of individuals both strongly for and against PCS. In addition, other variables that may affect the uptake interest such as perceived behavioural control (how easy or difficult it is for an individual to perform the particular behaviour),44 availability of reproductive options or considerations around termination of pregnancy were not directly measured.

It is well known that intentions to do a behaviour and actual participation are not always in alignment, and may be influenced by factors such as social barriers (eg, stigmatisation, discrimination), familiarity of diseases tested and awareness or perceived benefit.23 Consequently, tailored community education programmes addressing the issues identified in this study would be required to ensure individuals with different levels of genetic knowledge are sufficiently informed to make decisions regarding PCS testing. This study highlights that continuous education of GPs, and thus the community, is crucial to reduce misconceptions and to raise awareness about PCS in the community. Increasing genetic literacy among those who have a positive attitude towards screening in turn might improve uptake. Our findings thus inform how PCS might best be implemented into the future.

Supplementary information is available at the Journal of Medical Genetics website.

## Acknowledgments

The authors would like to thank all funding bodies for their continuous support.

View Abstract

## Footnotes

• Contributors RO, DH, PC, CM, GR, NGL designed the study. RO designed, analysed and administered the survey instrument, drafted the manuscript, coordinated the revisions and submitted the manuscript. DH, AR, HC, CM, GR, NGL participated in the data analysis. AR provided technical expertise in the data analysis. All authors commented on various versions of the manuscript, agreed on the final version to be published and can attest to the integrity of the work.

• Funding HC is supported by a National Heart Foundation Future Leader Fellowship (#100794). NL is supported by an Australian National Health and Medical Research Council Principal Research Fellowship (APP1117510). GR is supported by an Australian National Health and Medical Research Council Career Development Fellowship Level 1 (APP1122952). RO is supported by an Australian Postgraduate Award and an Australian Genomics Health Alliance PhD top-up award.

• Disclaimer The funding agencies had no involvement in the design, completion or writing of this study.

• Competing interests None declared.

• Patient consent Not required.

• Ethics approval Ethics approval for the study was granted by the Human Research Ethics Committee of the University of Western Australia (RA/4/1/8847).

• Provenance and peer review Not commissioned; externally peer reviewed.

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