Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”

Abstract

Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X‐linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations. However, the attitudes of the public to RGCS for many conditions have not been extensively studied in Australia. The aim of this study was to investigate the views of adults without a personal or familial history of a genetic condition on the inclusion of conditions with varying clinical characteristics in RGCS panels. In 15 semi‐structured telephone interviews, participants of reproductive age recruited from an obstetric ultrasound clinic and with convenience sampling in Melbourne, Australia, were presented with descriptions of seven groups of conditions with a range of severities. Participants were asked their views on whether the condition should be included in RGCS and whether they would choose to undertake screening for the condition. Data was co‐coded by at least two members of the research team and analyzed with quantitative content analysis and qualitative inductive content analysis. Most participants support the inclusion of a wide range of conditions on screening panels. The perceived severity of the conditions presented to prospective parents influenced their reproductive decision‐making. Even if they would not alter their reproductive choices based on a high‐risk result, this largely did not influence their views regarding the full range of conditions they believe should be included in carrier screening panels. Participants saw value in the choice and knowledge provided by RGCS panels. Reasons for excluding certain types of conditions included a perceived mild impact on quality of life and concern over societal impacts from broad screening. This study indicates that prospective parents want a tiered approach to RGCS and the ability to choose the severity of conditions included in screening.

What is known about this topic

It is known that the general public has a positive attitude toward carrier screening for severe conditions.

What this paper adds to this topic

This paper adds that with the broader range of conditions included in RGCS, the positive attitude toward carrier screening largely remains. Societal impacts should be considered as RGCS is implemented population‐wide.

1. INTRODUCTION

Reproductive genetic carrier screening (RGCS) can identify couples who have an increased chance of having a child with an autosomal recessive (AR) or X‐linked (XL) condition (Gregg et al., 2021). Initially, carrier screening was implemented based on ethnicity or specific family history. It is now recognized that carrier screening based on ethnicity has the potential to miss detecting carriers, leading to inequitable reproductive care (Kaseniit et al., 2020). Massively parallel sequencing has seen RGCS evolve, creating an opportunity for population‐based screening for large numbers of conditions (Gregg et al., 2021).

The peak body recommendations in the United States and Australia are to offer RGCS to all prospective parents. The American College of Medical Genetics and Genomics (ACMG) states that RGCS should be offered to all prospective parents for AR conditions with a population carrier frequency of ≥1 in 200 (Gregg et al., 2021). Similarly, the Royal Australian and New Zealand College of Obstetricians and Gynecologists (RANZCOG) recommends that information on RGCS should be provided to all prospective parents (RANZCOG, 2019). In November 2023, a government rebate was introduced in Australia for carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. Since then, there has been a monthly average of around 10,000 Australian women accessing this screening (Services Australia, 2025). A subset of those accessing the rebate chose to self‐fund RGCS to access screening for hundreds of conditions. To date, however, there have been no Australian studies that consider the proportion of people who are offered RGCS and those who choose to proceed with screening.

With the technical ability to screen couples for hundreds of single‐gene conditions, the types of conditions that should be included in screening panels need to be considered, and this is an ethically complex task (Dive et al., 2022; Kirk et al., 2021). Offering screening for genetic conditions, with the premise of empowering couples with reproductive autonomy, can be seen as passing judgment on the value of those living with these conditions (Kirk et al., 2021). Additionally, offering screening for conditions that have incomplete penetrance can create confusion and anxiety for couples as they navigate decision‐making (Swainson et al., 2025). There is also an existing fear that broad and population‐wide RGCS may become eugenic in nature, encouraging prospective parents to aim for a “perfect” child (Freeman et al., 2024; van den Heuvel et al., 2023). Notably, empirical evidence on these potential implications of RGCS is lacking (van den Heuvel et al., 2023).

To support the ethical and effective implementation of RGCS, it is important to explore the views of those who may access it. This has been done previously through quantitative surveys, and the results are divergent. In a survey of 387 men and women of reproductive age, Van Steijvoort et al. (2022) found that offering RGCS was acceptable to 86% of participants, and there was a positive correlation between knowledge of RGCS and acceptability. By contrast, Nijmeijer et al. (2019) found that 36% of participants did not wish to have screening, and 33% were uncertain. The main reason for participants being in favor of RGCS is its ability to prevent severe disease in children (Nijmeijer et al., 2019). The main reason for participants being against RGCS is low risk perception (Nijmeijer et al., 2019). A recent Australian study investigating the feasibility and acceptability of couple‐based RGCS demonstrated high acceptability and low decisional regret from participants (Kirk et al., 2024). Qualitative studies, such as ours, can provide nuanced data by providing insight into the personal beliefs and values that influence couples' decision‐making around RGCS (Swainson et al., 2025).

The aim of this study was to ascertain the views of individuals of reproductive age, without a personal or family history of a genetic condition, regarding which types of conditions they believe warrant inclusion in RGCS.

2. METHODS

2.1. Study design

A qualitative approach was used to explore participants' opinions on RGCS and the types of conditions included. Qualitative research seeks to discover the perspectives of participants and the context of their viewpoint (Cooper & Endacott, 2007); as such, it was deemed to be the best approach to answer the research questions. The study was conducted within a post‐positivist paradigm, which guided our approach to data collection, analysis, and interpretation (Wainstein et al., 2023). Post‐positivism is a philosophical stance that recognizes the existence of an objective reality while acknowledging that human bias can only allow for an imperfect understanding of that reality. It recognizes that researchers can have biases based on their background and experiences and seeks to mitigate these through rigorous research methodologies and methods (Ayton et al., 2024). It provides a pragmatic and reflective approach that values both empirical inquiry and contextual understanding and is suited for addressing real‐world problems in education and health (Mahato, 2024; Young & Ryan, 2020). We used the Consolidated Criteria for Reporting Qualitative Studies (COREQ) checklist for the reporting of this study (Checklist 1: Data S1; Cooper & Endacott, 2007; Kuper et al., 2008; Tong et al., 2007; Wainstein et al., 2023).

2.2. Participants

The participants were English‐speaking individuals of reproductive age (18–44 years). This sample represents one major stakeholder in RGCS to whom the surrounding issues are highly relevant. A total of 111 participants were invited to participate from an obstetric ultrasound practice, and with convenience sampling from friends and family of the research team. Recruitment from an obstetric ultrasound practice, within the specified age range, allowed recruitment to focus on those to whom this topic is most relevant. Convenience sampling was used when recruitment from the ultrasound clinic alone did not yield enough participants to reach data saturation. No participants were known to the researcher who conducted the interviews. To reduce bias and capture a range of perspectives, we made efforts to ensure the participant pool was diverse. There was no requirement for participants to be pregnant at the time of participation. Pregnant women who were past 14 weeks gestation were excluded from the study. This ensured that participants wishing to access RGCS after their interview would be able to do so and would have reproductive options available if necessary. For couples identified as high‐risk, this would include the possibility of diagnostic testing such as amniocentesis and, if desired, the option to terminate an affected pregnancy. In Australia, amniocentesis results can take up to 3 weeks to return. Terminating a pregnancy, while legal in Australia, becomes increasingly complex—medically, emotionally, and legally—as pregnancy progresses (Haining et al., 2023; Spingler et al., 2023). Limiting participation to those under 14 weeks helped to preserve the full range of reproductive choices. Individuals who met the inclusion criteria were asked if they wanted to participate in the study. With their consent, potential participant contact information was then passed on to the research team.

2.3. Data collection

The interview guide was based on an existing questionnaire from a quantitative study that considered the views of parents of children with genetic conditions on RGCS (Thomas et al., 2020). The questionnaire was previously piloted to evaluate its reliability and validity (Thomas et al., 2020). The previously described condition taxonomy was used to create seven groups of conditions (Lazarin et al., 2014). This classification method is based on the lethality, severity of symptoms, and age of onset of the condition.

After providing verbal consent to partake in the interview, participants were provided with background information on RGCS and an overview of the purpose of the research. They were then asked their view on the inclusion of each group of conditions in RGCS. Conditions were described in general terms, and participants were not told the names of the conditions (Table 1). The purpose of this strategy was to allow extrapolation of participant responses to other conditions with similar characteristics. Demographic information, including age, education, and religion of each participant, was also collected. Religiosity was assessed using the Centrality of Religiosity Scale (Huber & Huber, 2012).

TABLE 1.

Condition descriptions as used in participant interviews.

Condition description in interview	Condition modeled on	Type of condition
Condition A is one where a child appears healthy at birth, but by 6 months the child does not meet developmental milestones. Affected children develop seizures and from around 12 months lose skills. Death occurs prior to 5 years of age. There are no treatments that can prevent, delay or slow progression	Tay Sachs disease	Early fatal neurodegenerative
Condition B is one that if untreated causes severe intellectual disability (previously called mental retardation). It can be diagnosed soon after birth by newborn screening (the Guthrie test). A strict lifelong diet can prevent the build‐up of toxic substances and thus prevent intellectual disability	Phenylketonuria	Treatable metabolic
Condition C is a cause of moderate to severe intellectual disability. It can also cause autism and seizures (epilepsy). There are no treatments to prevent the intellectual disability. Medications can help with behavioral symptoms and epilepsy	Fragile X syndrome	Intellectual disability
Condition D is one in which the child develops symptoms soon after birth, in many parts of the body, and requires multiple medications to treat them. There is normal brain function. The treatments are daily with regular review at a children's hospital (every 2–3 months). As time goes by the condition deteriorates, requiring frequent hospital admission for up to 2 weeks at a time despite optimal treatment, and the average life span is mid‐30's. Organ transplantation may be required to extend life	Cystic fibrosis	Chronic multisystem disorder
Condition E is one where symptoms begin in adulthood. More than half with the genetic predisposition never develop symptoms. Problems can include liver cirrhosis, liver cancer, diabetes, arthritis, and fatigue. Severe complications are preventable by donation of blood	Haemochromatosis	Preventable adult‐onset
Condition F is one which affects children's motor ability, so that most never walk normally, and are usually in a wheelchair by age 5–10 years of age. There is no cure. The condition progresses so that by late teenage years, many of the children require breathing assistance with a mask, initially asleep only, but later while awake too. Most people with this condition die between 20 and 30 years of age	Duchenne muscular dystrophy	Childhood‐onset neuromuscular
Condition G is one which causes hearing loss that can vary from mild to profound. Those with the most severe hearing loss do not develop speech unless they have an operation to connect a device called a cochlear implant to the inner part of their ears. Some people with less severe hearing loss need to wear hearing aids. Others with mild hearing loss do not need any treatment	Non‐syndromic hearing loss	Non‐syndromic hearing loss

Note: Column 1 was given to participants. Columns 2 and 3 are specific examples of conditions in Column 1, used to develop the descriptions but not given to participants.

Researcher CG (BSc.) conducted the interviews. Interviews were conducted by telephone with only the researcher and participant present. Data was captured using an audio‐recording device. Interview duration was between 30 and 60 minutes; no repeat interviews were carried out. All interviews were transcribed verbatim and managed using qualitative analysis software NVivo12 plus (Bazeley & Jackson, 2007). Interviews were de‐identified prior to analysis, and participants are referred to by number to maintain privacy.

2.4. Data analysis

Quantitative content analysis and qualitative inductive content analysis were used to analyze the data (Lynch et al., 2024; Vears & Gillam, 2022). Quantitative content analysis allowed the use of specific units of analysis by counting the number of participants who would include/exclude certain conditions from RGCS (Lynch et al., 2024). Qualitative inductive content analysis allowed the emergence of other categories from participant views (Lynch et al., 2024). The process involved categorizing textual data based on shared content into categories, followed by an iterative analysis to interpret meaning, without employing numerical or statistical methods. Interviews were co‐coded by a minimum of two members of the research team to reduce bias and ensure consistency in the research (Elo & Kyngäs, 2008). When coding disagreements arose, these were discussed until a consensus was reached. Related codes were discussed and arranged according to categories, with quotes selected to support each category. Data saturation was reached when no new concepts were emerging from the interview data. Researchers used reflexivity throughout the research process to actively reflect on how assumptions and lived experience may influence the data analysis.

This study was approved by the Royal Children's Hospital (RCH) Human Research Ethics Committee (HREC 2019.112).

3. RESULTS

3.1. Participants

Of the 111 individuals invited to participate, 15 agreed to be interviewed for this research study. Six participants were recruited from the obstetric ultrasound practice, and nine were recruited with convenience sampling (Figure S1). Of the 15 participants, six were pregnant at the time of the interview, and three had carrier screening. Our participants were religiously heterogeneous, with four assessed as religious and five assessed as highly religious. Participant ethnicity was self‐reported. Table 2 summarizes participant demographics.

TABLE 2.

Participant demographics.

Demographics	n (n = 15)
Age
25–30	7 (47%)
31–35	5 (33%)
36–40	1 (7%)
41–45	1 (7%)
Ethnicity
Anglo‐Saxon	4 (27%)
Chinese	3 (20%)
Caucasian	2 (13%)
Ashkenazi Jewish	2 (13%)
Turkish	1 (7%)
Italian	1 (7%)
Spanish	1 (7%)
Unspecified	1 (7%)
Religion
Buddhism	1 (7%)
Catholicism	2 (13%)
Christianity	4 (27%)
Islamism	1 (7%)
Judaism	3 (20%)
Pagan Catholic	1 (7%)
No religion	3 (20%)
Religiosity
Not religious	6 (40%)
Religious	4 (27%)
Highly religious	5 (33%)
Tertiary educated	13 (87%)
Parents	6 (40%)
Already had RGCS	3 (20%)

3.2. Categories

Quantitative content analysis and qualitative inductive content analysis identified three key categories relevant to the research question. Category 1 included the types of conditions participants think should be included in RGCS. Category 2 included the reasons participants gave for the inclusion of conditions in RGCS, and Category 3 included the reasons participants gave for the exclusion of conditions in RGCS. Verbatim quotes with minimal encouragers removed were used to represent inductive analysis data. Quotes that are general in nature note only the participant number, while those referring to specific types of conditions make note of the condition.

3.3. Category 1

3.3.1. Types of conditions that should be included in RGCS

All 15 participants supported the inclusion of early fatal neurodegenerative and childhood‐onset neuromuscular conditions in RGCS. Twelve participants thought all the conditions described should be offered on screening panels, while three thought some conditions should be excluded. Of the three who thought some conditions should be excluded, all thought non‐syndromic hearing loss should be excluded. Only two thought preventable adult‐onset conditions should be excluded. Of the 12 who believed all the conditions should be offered in RGCS, eight would choose to undergo screening for all the conditions. Four would choose not to screen for certain conditions. Quantitative content analysis enabled the quantification of responses of participants regarding Category 1 (Table 3).

TABLE 3.

Category 1, the views of each participant regarding reproductive carrier screening for conditions discussed.

Type of condition	Screening choice	P1	P2	P3	P4	P5	P6	P7	P8	P9	P10	P11	P12P	P13	P14O	P15	Percentage of participants (%)
Early fatal neurodegenerative	Offer	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	100
	Uptake	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	100
Treatable metabolic	Offer	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	✓	✓	✓	✓	93
	Uptake	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	✗	✓	✓	✗	80
Intellectual disability	Offer	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	✓	✓	✓	✓	93
	Uptake	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	‐	✓	✓	✓	86
Chronic multisystem disorder	Offer	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	✓	✓	✓	✓	93
	Uptake	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	✓	✓	✓	✓	93
Preventable adult‐onset	Offer	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	✓	✓	✓	✗	86
	Uptake	✓	✓	✓	✓	✓	✗	✓	✗	✓	✗	✓	✗	✓	✓	✗	73
Childhood‐onset neuromuscular	Offer	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	100
	Uptake	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	✓	100
Non‐syndromic hearing loss	Offer	✓	✓	✓	✓	✓	✓	✓	✓	✓	✗	✓	✓	✓	✓	✗	86
	Uptake	✓	✗	✓	✓	✓	✗	✓	✗	✓	✗	✓	✗	✓	✗	✗	53

Note: For each type of condition, the blue rows represent whether the participant thinks screening should be offered, and the white rows represent whether they would have screening. The percentages indicate the proportion of participants that think each condition should be offered in RGCS and that would choose to have RGCS for that condition.

3.4. Category 2

3.4.1. Reasons for inclusion of conditions in RGCS

Participants said that all or specific types of conditions should be included in RGCS for a variety of reasons. The reasons most often cited were a perceived severe impact on quality of life for the child and family, choice and informed decisions, and preparation for having an affected child.

Severe impact on quality of life

All participants valued RGCS due to concern about having a child with a genetic condition, particularly those they perceived as severe. Features of conditions which elicited this response included conditions that are childhood‐onset, for which there is no treatment to improve outcome, and/or that result in reduced life expectancy. P12 described the impact of having a child with a severe genetic condition: “to have no quality of life and always being in and out of hospital no way that just sounds awful that's not living” (P12 in response to chronic multisystem disorders).

Choice and informed decisions

Choice and the ability for people to make informed decisions were key factors influencing participant views. Many participants asserted that screening for all the described conditions should be offered to all prospective parents. P9 described their view on the accessibility of RGCS, despite not wishing to screen for all the conditions themself. They explained that “because everyone's different this may be important to some people so yes I think it should be people can choose.”

Participants also valued the information identified from carrier screening for its ability to inform reproductive decision‐making. P6 acknowledged that results from RGCS would impact pregnancy planning and said, “would the thought of, like, abortion … come into play … I definitely do think it would” (P6 in response to early fatal neurodegenerative conditions).

Forewarning and preparation

Participants saw value in RGCS in that it can help a couple prepare for the birth of an affected child if they decide to continue an affected pregnancy. P5 described the value of forewarning as being both practical and of psychological benefit:

Even if you might choose to still have a child you can prepare yourself mentally, you know better, you do better, right, you can put stuff in place, you can ask for support. There are so many things you could do … forewarned is forearmed.

Table 4 shows the reasons most often given for the benefits of screening.

TABLE 4.

Reasons for including conditions in screening included a perceived severe impact on quality of life, choice, and preparation.

Category 2: Reasons for inclusion	Condition	Quote
Severe impact on quality of life	Early fatal neurodegenerative conditions	“I think it would impact a lot I can't imagine how bad it is.” (P1)
	Early fatal neurodegenerative conditions	“I think it's quite severe ….the child doesn't really get much of you know much of the life.” (P4)
	Childhood‐onset neuromuscular conditions	“That would have a pretty significant impact all the physical inability wheelchair access all that kind of stuff.” (P5)
	Chronic multisystem disorders	“To have no quality of life and always being in and out of a hospital no way that just sounds awful that's not living.” (P12)
Choice and informed decisions	–	“It's obviously up to the parents if they want to find out or if they don't want to find out if you know their baby's OK.” (P6)
	Early fatal neurodegenerative conditions	“For those people who know that they're not strong enough…they see that the results aren't great then they can make their decision accordingly.” (P14)
	Early fatal neurodegenerative conditions	“The parents should have the choice of whether they are actually prepared to raise this…possibility of this condition in their child.” (P15)
Forewarning and preparation	–	“Well I think it's important to know what you're getting in for you know to be able to prepare as well for helping out your child.” (P5)
	Chronic multisystem disorders	“I feel like this is one where you know you do want to think about where you're going to live. If you've got to come to the children's hospital frequently you might make a different decision.” (P11)
	Treatable metabolic conditions	“I think it would be great to have screening for this condition because you decide to have this kid you're going to be more prepared…with all the treatment all the life changes.” (P15)

3.5. Category 3

3.5.1. Reasons for exclusion of conditions from RGCS

The main reason that participants stated that a condition should be excluded from RGCS and/or would not screen for certain conditions was the perception that some conditions were too mild to justify screening. Other reasons stem from personal experience or a concern for the potential long‐term societal impacts of RGCS.

Mild impact on quality of life

Participants were more likely to perceive a condition as mild if it showed reduced penetrance, was adult‐onset, and/or was treatable. In response to non‐syndromic hearing loss, P2 noted that “this of all is the least severe one and you can actually find out about the treatment as you go…it's not really life threatening.”

Personal experience

While personal experience was a reason for some participants to include a certain condition in RGCS, it was a reason for other participants to exclude it. P15 describes their son's friend in childcare who “has one of these hearing devices” and that they think “he is normal.”

Societal impacts

A concern raised by a minority of participants was that RGCS may have broader societal impacts, such as being perceived as eugenic and potentially leading to lesser treatment and tolerance for people with disabilities. P10, a participant who identified as a highly religious Christian, voiced their concern with RGCS and termination of pregnancy from the start of their interview. Their concern was “coming from a belief that we are made in the image of God” and that “we become human at the point of conception.” P10 felt more comfortable with screening for very severe conditions and much less so for milder conditions. They explained this concern in response to screening for metabolic conditions, “if we don't draw the line here then will we be screening out coeliacs and people who are gluten intolerant and you know people who don't like tomatoes?”

Their concern continued throughout the interview and culminated with their response to non‐syndromic hearing loss, “I think this one shouldn't be screened, it shouldn't be offered … the concept of carrier screening needs to be … really solemnly protected.”

Table 5 shows the reasons people gave for putting limits on RGCS.

TABLE 5.

Reasons for excluding conditions in screening included a perceived mild impact on quality of life, personal experience, and societal impacts.

Category 3: Reasons for exclusion	Condition	Quote
Mild impact on quality of life	Non‐syndromic hearing loss	“Would their life be any different to you know a normal kid to a kid without a disability? I don't think so like I think it would be the same.” (P6)
	Preventable adult‐onset conditions	“It doesn't sound as much of an impact if its symptoms may or may not develop and then if not until adulthood.” (P5)
	Non‐syndromic hearing loss	“He's going to have hearing loss or something but he's not going to die or have medication or go to the hospital or die young.” (P15)
Personal experience	Non‐syndromic hearing loss	“I'm pretty sure my hearing is terrible.” (P7)
	Treatable metabolic conditions	“I'm used to being adapted like we grew up all over Asia so adaptation routine is a very big thing I think that's doable.” (P12)
	Preventable adult‐ onset conditions	“I know people do pick up arthritis I know people like I was a cocktail bartender I know people who have liver issues.” (P12)
Societal impacts	–	“I've also got question marks over the concept of like eugenics…My biggest concern is where the line is drawn and who is drawing the line.” (P10)
	Intellectual disability	“So actually the people with these conditions as the occurrences drop will probably get less adequate care and therefore what does that mean for tolerance in society.” (P10)
	Early fatal neurodegenerative conditions	“It's a bit of a slippery slope argument how far do you take this you know when does it become acceptable to select on what criteria.” (P11)

4. DISCUSSION

4.1. Types of conditions to include in RGCS

In this study, we have shown that the public supports a broad range of conditions being included in RGCS. There is a positive public attitude to RGCS for severe conditions, with all 15 participants asserting that carrier screening should be offered for early fatal neurodegenerative and childhood‐onset neuromuscular conditions. These two types of conditions were amongst those most supported for inclusion in RGCS in a study that surveyed people with lived experience of different disabilities (Thomas et al., 2020). The receptivity toward RGCS for severe conditions identified by our study and some previous studies is similar to the receptivity toward carrier screening in its early days (Ioannou et al., 2014; Van Steijvoort et al., 2020).

Upon consideration of milder conditions, the participants' views were more nuanced, yet still overall receptive. Twelve participants (80%) think non‐syndromic hearing loss should be offered on RGCS panels. This is in line with a survey of 655 people that found the inclusion of non‐syndromic hearing loss to be acceptable to 84% of participants (Freeman et al., 2022). Similarly, thirteen participants in our study think preventable adult‐onset conditions should be included on RGCS panels, mirroring other recent studies that found the majority of people would choose to have carrier screening for mild conditions (Van Steijvoort et al., 2020). However, this positive attitude toward the inclusion of mild conditions is not always seen in studies involving participants living with genetic disease (Boardman & Hale, 2018; Freeman et al., 2024).

Twelve of the participants (80%) think that all the described conditions should be offered on RGCS panels, but only eight would choose to have screening for all the conditions. This can imply that participants would value an offer of RGCS that allows for choice as to which conditions are screened, similar to the proposal suggested by the ACMG (Gregg et al., 2021) and already used to some degree by certain genetic testing companies (Blueprint Genetics, 2024; Victorian Clinical Genetics Services, 2025). Interestingly, although participants from another study also indicated a preference for choice, when presented with options, most people chose to receive all optional results (Wilfond et al., 2018).

4.2. Utility of RGCS

Traditionally, the evaluation of genomic tests focused on analytical validity, clinical validity, and clinical utility. This is upheld by the ACMG, which measures the clinical utility of RGCS by its impact on reproductive decision‐making (Gregg et al., 2021; Kohler et al., 2017). Increasingly, however, studies are finding that personal utility, or non‐health‐related outcomes, are important potential benefits to genomic testing (Kohler et al., 2017). Two of the main reasons cited in this study for inclusion of conditions in RGCS were choice and informed decisions, and forewarning and preparation. Participants value reproductive knowledge, both when it will directly impact reproductive decisions and when it may not. This indicates that the utility of RGCS should not solely be considered for its ability to impact reproductive decision‐making, as it can have other valuable outcomes. Reproductive autonomy is the main goal of RGCS and falls within the behavioral domain of personal utility (Kohler et al., 2017). It is therefore essential for genomic testing companies and policy makers to consider this when selecting which conditions are included in RGCS.

4.3. Societal impacts

As RGCS is being implemented on a population level, we need to consider how it may affect society. Two of our participants voiced concern about the extent to which carrier screening may go, one invoking the practice of eugenics and questioning if one day we may screen people for food intolerances. This participant also spoke of the long‐term effects on global society, including the risk of less medical care for those living with disability and of society becoming less tolerant. These concerns have been raised by previous studies (van den Heuvel et al., 2023). Among studies involving participants with lived experience of genetic conditions, some have highlighted these issues (Boardman & Hale, 2018; Freeman et al., 2024), while others have not (Thomas et al., 2020; Woudstra et al., 2022); underlying the complexity of panel creation for RGCS.

While religion may have been an influencing factor for some participants in our study, it was not a consistent or clearly determining factor in decision‐making. Of the five participants who identified as highly religious, only two described their religious beliefs as influencing their decisions. This finding is similar to that of Thomas et al. (2020) who found that religion did not significantly influence participant views of RGCS. It is also similar to that of a recent systematic review that explored factors influencing parental decisions for pediatric genetic testing (Doll et al., 2025). This finding demonstrates that people should not be categorized, or assumptions made about them, based solely on their religious identity (Bakst et al., 2019; Boardman et al., 2020; Doll et al., 2025; Thomas et al., 2020). In the genetic counseling context, religion should be considered as one component of an individual's broader set of life values, rather than as a singular, overriding influence. This approach will allow for inclusive and equitable access to genetic services, as outlined in the practice guidelines of the Human Genetics Society of Australasia (HGSA; Brown et al., 2025).

Given that RGCS impacts reproductive decision‐making and has an influence on future generations, it is understandable that our participant connected RGCS to eugenic practices of the past (Dive & Newson, 2021). With the technological ability to screen for many conditions, there is an important ethical consideration— if something can be done (i.e., RCGS), is that a strong enough reason that it should be done? While reproductive autonomy is the emphasized goal of RGCS, Dive and Newson (2021) highlight that outcomes for individuals do not negate outcomes for populations and, as such, an ethically defensible RGCS program cannot ignore outcomes for populations. Further studies are needed to determine if the potential harms of RGCS are realized with its implementation (van den Heuvel et al., 2023).

4.4. Implementation and practice implications

To meet its main goal of reproductive autonomy, practitioners need to offer RGCS free from coercion and with as much respect for the individual's personal values as possible. The nature of population health initiatives is that they inevitably take a one‐size‐fits‐all approach; however, the wishes of the individual and/or the couple should be explored and adhered to throughout the provision of this genomic technology (Henneman et al., 2016). Reproductive autonomy should be considered in context, with an understanding that there may be social determinants that reduce true autonomy (Dive & Newson, 2021).

Expanded screening panels have a lot of information for prospective parents to navigate before undertaking screening, and implementing RGCS with a tiered approach may result in further complexities for people to consider. Particularly because the literature indicates that people often choose to have all the information available to them, the potential benefits of a tiered approach may not outweigh the potential harm (Wilfond et al., 2018). It is important that health professionals ensure the foundations of informed consent, information, comprehension, and voluntariness are met (Hendriks, 1997). This type of consent may be similar to the consent process for other genomic testing in which highly complex information is simplified, and the focus is on communicating the critical components of testing (Ormond et al., 2021; Rego et al., 2020).

4.5. Limitations and future research

Although 111 people were invited to participate, only 15 consented to participation. This may have been due to recruitment taking place in 2020, during the COVID pandemic. Those invited to participate may not have wanted to add any additional tasks due to the stress of the pandemic and lockdowns in the city where the study was conducted. While none of the participants were known to the researcher conducting the interviews, convenience sampling may have introduced bias. Participants recruited through convenience sampling may have had a greater awareness or receptivity toward RGCS due to their connections with some of the researchers. Additionally, since most participants were from one location in Australia, our results may not be generalizable to the broader Australian population. The small participant numbers did not appear to greatly impact participant ethnic diversity; however, it may have impacted the diversity of education of participants, as most of the participants are tertiary educated. Our low recruitment rate may also be an indication that the people agreeing to participate had already formulated views on RGCS. A further limitation may have been the approach that was used of describing conditions in a general way to allow grouping. While the condition descriptions used in this study reflect major features of conditions, it is possible that the specific details of the phenotype associated with a condition are important in shaping opinions, so that these general descriptions could have led us to miss some detail. Finally, as data collection for this study took place several years prior to publication, it is possible that participants' views may have shifted in this time.

RGCS is a new healthcare technology with wide implications for individuals and society. Further mixed‐methods research that elicits the views of a larger and more diverse group will broaden the applicability of this research. The ethical implications of RGCS, including the potential long‐term societal effects of broad screening, should also be considered. What people say they will do and what people actually do does not always align (Sheeran & Webb, 2016). More studies looking at the decision‐making of couples found to be high risk from carrier screening will help explore whether the potential societal implications have grounding.

5. CONCLUSION

We have demonstrated a favorable view of RCGS amongst prospective parents, with most participants thinking that RCGS should be offered for all the conditions described, and all participants saying that it should be offered for severe conditions with a marked impact on quality of life. Health professionals will need to consider the way that pre‐test consent is obtained and how to simplify complex information to convey the key points. Reproductive autonomy is the main goal of RCGS; however, outcomes for society should be considered.

AUTHOR CONTRIBUTIONS

Chaya M. Goldman: Methodology; investigation; formal analysis; writing – original draft; writing – review and editing. Sharon Lewis: Methodology; formal analysis; writing – review and editing; supervision. John Massie: Writing – review and editing; supervision. Edwin P. Kirk: Writing – review and editing; supervision. Allison Symons: Resources; supervision. Martin B. Delatycki: Conceptualization; formal analysis; project administration; supervision; writing – review and editing.

CONFLICT OF INTEREST STATEMENT

Authors Chaya Goldman, Sharon Lewis, John Massie, Edwin P Kirk, Allison Symons, and Martin B Delatycki declare that they have no conflict of interest.

ETHICS STATEMENT

Human studies and informed consent: This study was approved by the Royal Children's Hospital (RCH) Human Research Ethics Committee (HREC 2019.112). All participants provided verbal consent prior to partaking in interviews for this study.

Animal studies: No nonhuman animal studies were carried out by the authors for this article.

Supporting information

Data S1.

Goldman, C. M. , Lewis, S. , Massie, J. , Kirk, E. P. , Symons, A. , & Delatycki, M. B. (2025). Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”. Journal of Genetic Counseling, 34, e70100. 10.1002/jgc4.70100

DATA AVAILABILITY STATEMENT

Data is available upon request.