Universal Newborn Screening for Familial Hypercholesterolaemia: Insights from Expectant Parents at a Tertiary Referral Centre in Queensland, Australia

Abstract

Background: Familial hypercholesterolaemia (FH) is an inherited condition that substantially increases the risk of premature atherosclerotic cardiovascular disease (ASCVD). Despite effective therapies, many affected individuals remain undiagnosed. Incorporation of FH testing into newborn screening (NBS) is a potential strategy to increase detection. This study explores the attitudes of expectant parents toward NBS for FH. Methods: Expectant parents attending Obstetrics and/or Obstetric Medicine clinics at a tertiary referral centre were invited to participate in a semi-structured interview in person or via telephone. The interview explored views on screening children for FH in general, preferred timing of screening, opinions on integrating FH screening into routine NBS, acceptability of genetic testing in children and newborns, willingness to engage in family screening and any potential impact on participation in routine NBS programmes. Participants were also invited to discuss concerns and benefits. Results: All participants (n = 22) supported screening children for FH with the majority (n = 19, 86%) preferring screening during the newborn period, and all but one (n = 21, 95%) supporting adding FH to routine NBS. All participants (n = 22, 100%) considered genetic testing for FH acceptable for children, 21 (95%) considered it acceptable for newborns. All participants would partake in extended family screening and none indicated that including FH genetic testing would reduce their willingness to engage in routine NBS. Concerns raised by participants included administering lipid-lowering therapy to children and potential post-diagnosis stress and anxiety. All participants reported that a diagnosis would not affect parent–child bonding. Key perceived benefits raised by participants included early diagnosis and prevention of heart disease, family screening, and broader health system and community advantages. Conclusions: Expectant parents demonstrated strong support for FH NBS and indicated no negative impact on uptake of routine NBS. Further work is needed to address parental concerns and guide implementation strategies.

1. Introduction

FH is a common inheritable cause of ASCVD. It causes elevated low-density lipoprotein cholesterol levels from birth and if left untreated leads to significant premature ASCVD and associated increased mortality rates [1]. FH is inherited in an autosomal co-dominant manner caused by variants of the LDLR, APOB, and PCSK9 genes. Unless otherwise stated, FH in this article refers to the heterozygous form. There is also one rare autosomal recessive form affecting LDLRAP1 [2]. FH is common and can affect 1 in 250 people but FH prevalence varies by age and geographical location [3]. An Australian study found the prevalence of FH in two different Australian community populations to be 1 per 353 and 1 in 229 [4]. Early diagnosis and pharmacological treatment recommended from the age of 8–10 years combined with early dietary modification is supported by major guidelines [5,6,7]. Statin treatment is safe in children, including long-term treatment as demonstrated in a study that followed statin-treated children with FH for as long as 20 years [8,9,10,11]. FH detection rates remain low worldwide [12] and detection also tends to occur late: A registry study of 61,612 individuals with FH reported the mean age of diagnosis as 43 years in men and 46 years in women, with only 2.1% diagnosed before the age of 18 [13]. Similarly, Australian registry data showed that individuals with FH are diagnosed late in life: Age at enrolment was 53.4 +/− 15.1 years with assessment for FH 1.76 +/− 4.1 years beforehand [14]. To improve detection and treatment numbers, universal screening for FH is recommended by guidelines but the approaches differ from country to country, particularly the age and modality of screening [15]. An Australian guideline recommends consideration of screening preferably at the age of 1–2 years at the time of immunisations [6].

Another strategy could be the incorporation of universal screening for FH into routine NBS programmes to increase early detection. In Australia, NBS programmes are coordinated by states with five reference centres providing routine screening to families in all Australian states and territories [16]. Screening for FH as part of NBS could be implemented using an initial lipid profile with reflex genetic testing for abnormally elevated lipid parameters [17], or through upfront genetic testing [18]. Both approaches offer the advantage of early identification and the option of early treatment of children with the additional benefit of enabling (reverse) cascade screening of family members.

Healthcare providers (HCPs) have argued that (genetic) screening for FH should be included in NBS both internationally and locally in Australia [19,20,21]. Any such implementation would require careful planning to minimise potential harms associated with universal screening [22]. Importantly, meaningful engagement with key stakeholder groups including children, parents, paediatricians, lipidologists, and the broader community is essential for successful adoption. While previous studies exploring parental attitudes toward childhood screening for FH have generally shown support, particularly when a family history of FH is present, there remains a gap regarding the attitudes of the local Australian population, particularly that of expectant parents [23,24,25,26]. A 2020 study even showed that only 45.5% of parents without a personal or family history of FH supported universal lipid screening at age 9–11 [27]. More recent data from 2024 reported unanimous support for universal lipid screening among 14 parents with FH or an affected family member [28]. One study specifically examining parental views on NBS for FH found that all 11 parents (they either had children with cystic fibrosis or FH) would consent to biochemical NBS and 10 out of 11 would consent to genetic NBS for FH [29]. To better understand the perspectives of a local Australian population, particularly during pregnancy, regarding the potential inclusion of FH in NBS, we conducted semi-structured interviews at a large tertiary referral centre.

2. Materials and Methods

This study employed a qualitative descriptive design using semi-structured interviews of approximately 20 min in duration. Recruitment occurred in the Obstetrics and Obstetric Medicine public outpatient clinics at a single tertiary referral hospital in Brisbane, Queensland, Australia, between August and September 2025. Flyers were handed out in the waiting room and were also placed in the consultation rooms. Inclusion criteria consisted of age > 18 years, English speaking, ability to provide informed consent, and either being a parent or currently pregnant/being the partner of the pregnant individual. Informed, written consent was obtained from each individual prior to voluntary study participation. Participants were offered the option to enter a raffle to win one of three AUD 100 gift vouchers.

All interviews were conducted by a single study investigator either in person or via telephone according to participant preference. A semi-structured interview guide was used. Participants first received information on FH, its clinical sequelae, available treatment options, and current screening recommendations and guidelines. The homozygous form of FH and its sequelae were not discussed with participants in this interview. They were also provided with a brief overview of the NBS process in Queensland. Interview questions then explored participants’ views on childhood screening for FH, including preferred timing and the acceptability of incorporating FH into routine NBS. Participants were encouraged to reflect on potential benefits and harms of screening children for FH. The interview subsequently focused on genetic screening for FH in childhood, including the possibility of incorporating genetic testing for FH into routine NBS and associated cascade and reverse cascade testing of family members. Participants were presented with a list of frequently cited concerns regarding genetic NBS for FH and were invited to comment on each. These included non-paternity concerns, discovering incidental health information about themselves, the prospect of initiating lipid-lowering therapy in children, financial implications, future access to health insurance, and potential negative impacts on the child following an early diagnosis of FH and possible effects on parent–child bonding. Participants were also asked if the inclusion of genetic testing for FH in routine NBS would influence their willingness to participate in NBS. Finally, participants were asked about their preferred method of receiving positive screening results and were given the opportunity to make additional comments. Interviews were transcribed verbatim and thematically analysed by a single researcher using deductive and inductive coding to identify key themes. A convenience sampling strategy was employed, with all eligible and consenting participants interviewed during the recruitment period. Data saturation was assessed retrospectively during thematic analysis. It was determined that the final interviews yielded no new codes or themes, suggesting that the sample size was sufficient to capture the range of parental perspectives. Basic demographic information was also collected, including age, sex, educational background, personal or family history of FH, and personal history of hypercholesterolaemia and/or heart disease. The educational material and interview guide are available as a Supplementary File S1.

The study was reviewed and approved by the Metro North Health Human Research Ethics Committee (HREC/2025/MNH/117323).

3. Results

3.1. Demographics

Participants included 22 expectant parents (21 pregnant women, 1 male partner) who completed the semi-structured interview. All participants who agreed to participate completed the interview; none were excluded from the study. Participants had a mean age of 31.3 +/− 5.1 years and were highly educated with 55% having a Postgraduate qualification and 32% a Bachelor’s degree. Most participants had no personal or family history of dyslipidaemia or ASCVD: no participant had FH, 91% and 95% denied a personal history of hypercholesterolaemia or heart disease, respectively, and 82% denied a family history of FH. The demographics of the study population are summarised in Table 1.

Table 1. Participant demographics (percentage and total number of participants).

Age (years)
Median	30.5
Mean ± SD	31.27 ± 5.05
Sex
Female	95.45% (21)
Male	4.55% (1)
Highest education achieved
Postgraduate degree	54.55% (12)
Bachelor’s degree	31.82% (7)
TAFE/other certificate or trade	9.09% (2)
Finished school	4.55% (1)
Elevated cholesterol
No	90.91% (20)
Yes	9.09% (2)
History of heart disease
No	95.45% (21)
Yes	4.55% (1)
History of familial hypercholesterolaemia
No	100% (22)
Family history of familial hypercholesterolaemia
No	81.82% (18)
Yes	4.55% (1)
Unsure	13.64% (3)
Children with familial hypercholesterolaemia
No	100% (22)

3.2. Screening During Childhood and the Newborn Period

All participants favoured screening children for FH with 86% preferring screening at the newborn age. One participant preferred screening at the age of 8 due to the recommendation to start pharmacological treatment from this age. Another participant favoured the age of 13 as they felt the child’s understanding would be better at that age. Finally, one participant chose the age of 5 due to concerns they may forget about results from the newborn age. They felt testing just before primary school might be more appropriate. Almost all participants were in favour of screening for FH as part of routine NBS including when asked about genetic testing. All participants were open to cascade and reverse cascade screening for FH should their child receive a diagnosis of FH. Importantly, none of the participants felt that inclusion of genetic screening for FH into routine NBS programmes would impact on their willingness to participate in routine NBS. The majority felt that being provided with an optional tick box for FH NBS would be confusing, particularly in the immediate postpartum period preferring automatic inclusion. This is an important finding that should be considered when designing future FH NBS models of care and associated consent processes. When asked whom they would prefer to receive positive screening results from, participants were able to self-nominate/suggest multiple staff members, Table 2. Most preferred to receive results from HCPs they already knew, such as their Treating Physician, Midwife, or their General Practitioner. Less commonly, participants identified Genetic Counsellors, Paediatricians, or clinicians with specific expertise in FH as possible options.

Table 2. Screening questions (percentage and total number of participants).

Is it acceptable to screen children for familial hypercholesterolaemia?
Yes	100% (22)
If yes, at what age would you prefer children are screened for familial hypercholesterolaemia?
Newborn	86.36% (19)
5 years	4.55% (1)
8 years	4.55% (1)
13 years	4.55% (1)
If yes, should screening for familial hypercholesterolaemia be included in newborn screening?
Yes	95.45% (21)
No	4.55% (1)
Is genetic testing for familial hypercholesterolaemia in children acceptable?
Yes	100% (22)
If yes, would you support genetic testing for familial hypercholesterolaemia in routine newborn screening?
Yes	95.45% (21)
No	4.55% (1)
Would you participate in extended family testing for familial hypercholesterolaemia if your child was found to have familial hypercholesterolaemia?
Yes	100% (22)
Would adding genetic testing for familial hypercholesterolaemia to routine newborn screening impact on your willingness to participate in the general screening programme?
No	100% (22)
If no, would you prefer if it was offered as an optional extra?
Yes	9.09% (2)
No	68.18% (15)
Could be an option	22.73% (5)
How would you like to receive genetic familial hypercholesterolaemia test results for your child? (multiple answers allowed)
Midwife	20.69% (6)
Genetic counsellor	10.34% (3)
Treating physician	27.59% (8)
General practitioner	31.03% (9)
Paediatric specialist	6.90% (2)
Staff trained in familial hypercholesterolaemia	3.45% (1)

3.3. Opportunities and Barriers of Screening for Familial Hypercholesterolaemia in Childhood and the Newborn Period

Participants were asked several questions that are commonly cited as barriers to introduction of universal childhood and newborn genetic screening for FH, Table 3. The main concerns included administering lipid-lowering therapy to children from the age of 8–10 years and possible negative impacts on children when diagnosed with FH. All participants who were concerned about administering lipid-lowering therapy to their children confirmed they would treat their children if diagnosed with FH. Their concerns centred around medication side effects (‘I would be a bit worried as it means giving a chemical to a child at such a young age. I would treat but would worry about it.’) and efficacy and they were interested in being provided with evidence of effectiveness and safety of pharmacological treatment (‘I would want a risk/ benefit discussion.’). Concerns of negative impacts during childhood included childhood anxiety and stress (‘they may blow it up in their head’, ‘they may be scared of dying’), feeling overwhelmed by the need to take daily medications (‘It could be a lot for them and overwhelming.’) and particularly the concern their children might feel different to their peers. Non-paternity was a concern/possible concern for just over half of the study population. While supportive of genetic NBS, some participants raised that informed consent is of particular importance to them.

Table 3. Questions raised with participants to address common concerns of genetic childhood screening for familial hypercholesterolaemia (percentage and total number of participants).

Are you concerned there may be negative impacts on your child if diagnosed with familial hypercholesterolaemia?
Yes	59.09% (13)
No	40.91% (9)
Do you worry about giving lipid-lowering therapy to children from the age of 8?
Yes	45.45% (10)
No	54.55% (12)
Are you concerned about revealing the biological father of the child?
Yes	27.27% (6)
No	45.45% (10)
Could be a concern	27.27% (6)
Are you concerned about financial implications?
Yes	18.18% (4)
No	72.73% (16)
Could be a concern	9.09% (2)
Are you concerned about discovering health information about self?
Yes	13.64% (3)
No	86.36% (19)
Do you worry about accessing future health insurance if diagnosed with FH?
Yes	13.64% (3)
No	72.73% (16)
Could be a concern	13.64% (3)
Could there be an impact on bonding with your child if your child was diagnosed with familial hypercholesterolaemia?
No	100%

Furthermore, participants were given the opportunity to discuss their own concerns and reflect on benefits of childhood screening for FH (including NBS). Recurring themes are summarised in Table 4. Common benefits mentioned were the opportunity to reduce ASCVD with early treatment (‘Early intervention and treatment—do it as soon as possible.’) and the beneficial effect on family members (‘Information for parents as they may not know they are carriers’, ‘get the family diagnosed and treated early’). The financial benefit to both the healthcare system and the community in general were also recurring themes (‘less emergency presentations’, ‘less strain on the medical system’). Major concerns centred around parental and childhood anxiety and the side effects of lipid-lowering medications.

Table 4. Benefits and concerns of childhood/ newborn screening for familial hypercholesterolaemia.

Benefits

- Early detection of atherosclerotic cardiovascular disease. - Prevention/ early treatment of atherosclerotic cardiovascular disease. - Increase in life expectancy. - Cascade and reverse cascade testing of family members. - Cost benefit for the healthcare system. - Cost benefit for the community. - Increased awareness of a treatable condition. - Information for future family planning.

Concerns

- Side effects of medications. - Tablet administration to young children. - Childhood anxiety. - Parental stress/anxiety. - Long time lag between diagnosis and treatment of children. - Frequent childhood blood tests. - Healthcare system workload increase. - Non-paternity. - FH variant identification may cause distress to extended family from reverse screening. - Survivor guilt in family members not found to have FH. - Possibility of false positive results.

4. Discussion

This study explored the attitudes of expectant parents towards screening children for FH, with a particular focus on the newborn period. Participants discussed both perceived benefits and concerns, including those specific to genetic testing. Overall, there was strong support for universal childhood screening for FH and most participants favoured the newborn period as the preferred time for testing. Participants also felt comfortable with genetic testing in the newborn period aligning with findings from a previous study of 11 parents who expressed support for genetic NBS for FH [29]. In contrast to our study, that study’s population consisted of parents with children with confirmed FH or cystic fibrosis. Interestingly, a 2020 study showed only 45.5% of parents supported universal lipid screening for children. It was postulated that this may be reflective of different attitudes of local paediatricians toward screening due to discrepancies in guidelines [27]. In contrast to our study, the parents interviewed were not asked about screening in the newborn period or genetic screening.

Importantly, one of the key findings of our study was that adding FH, whether biochemical or genetic, to routine NBS would not reduce the participants’ willingness to participate in existing, routine NBS. This is a critical consideration, as any decline in participation could compromise detection of conditions for which immediate intervention is necessary. Most participants favoured automatic inclusion of FH into NBS and felt that additional opt-in tick boxes could create confusion, particularly during the emotionally and physically demanding postpartum period. Most participants stipulated that a positive test result would best be received from a team member they were familiar with from previous care.

There were many perceived benefits of screening such as reduction and prevention of ASCVD, cost benefits and opportunities for screening of family members. This is in keeping with previously published literature [26,28,29]. Some of the potential concerns included the time lag between diagnosis and treatment of children, stress and anxiety among parents, their children and their extended family members, and the perceived uncertainties about lipid-lowering therapy in children. Although all participants agreed they would administer lipid-lowering therapy if recommended to do so by a HCP, they emphasised the need for clear information about efficacy and side effects. Regarding the impact on children, participants most commonly raised concerns about potential parental stress or anxiety, and the possibility that children might feel different or overwhelmed by having a condition associated with serious long-term health risks. Similar themes have been reported in studies when children with FH were questioned about how they cope with their diagnosis [23,25,30]. Notably, participants did not feel that an FH diagnosis would affect their ability to bond with their child. However, the concerns raised underscore the importance of establishing robust, accessible follow-up pathways before FH could be incorporated into routine NBS. Families will require coordinated support from multidisciplinary teams, including counselling services, to navigate diagnosis and management after an FH diagnosis.

This study has several limitations. The sample size was small, although comparable to similar qualitative studies [26,28,29]. There was only one male participant. Most pregnant individuals, who agreed to participate in this study, attended clinic without their partner, which resulted in a low number of male participants. This should be investigated in a further study with larger participant numbers and more male individuals. Participants were also highly educated, which may limit the generalisability of the results. It would be desirable to assess if participants’ attitudes change post birth with a follow-up study. Social desirability bias is a possibility and voluntary participation introduces the possibility of selection bias, as those with pre-existing interest in FH or screening may have been more inclined to participate. Additionally, this was a single-centre study conducted by a single interviewer within one Australian state and larger, more diverse studies are needed to confirm our findings.

Despite these limitations, this study represents the first investigation of parental attitudes towards NBS for FH in Australia providing valuable insights into the concerns and expectations of expectant parents, who will imminently make decisions about NBS for their future children. Previous studies outside Australia have focused on parents with affected children, or a family history of FH, or broader general populations, which means that this research addresses a gap in the views of pregnant women and their partners. It is reassuring that all pregnant women and their partner(s), whose infants will soon undergo routine NBS, expressed interest in FH screening and reported that its inclusion would not deter them from participation in existing programmes. These findings offer an important foundation for future work aimed at integrating FH into routine NBS and it highlights key areas requiring attention to ensure successful implementation.

5. Conclusions

All expecting parents interviewed supported screening children for FH, with most identifying the newborn period as the preferred time for testing. Routine NBS for FH, including genetic testing, was acceptable to nearly all participants, even after discussion of commonly cited concerns. Nonetheless, several parental concerns persist, underscoring the need for well-designed follow-up pathways to ensure families receive appropriate support after screening. A multidisciplinary team approach with inclusion of all stakeholders, education regarding FH for both families and their healthcare teams and smaller pilot projects may be next steps prior to a wider implementation of FH NBS.