Inborn errors of metabolism (IEM) are rare genetic diseases arising from congenital deficiencies of certain enzymes or cofactors. The accumulation of excessive toxic substances and the absence of essential metabolites may damage vital organs, impair normal metabolism, or increase risks of morbidity and mortality. A small proportion of IEM cases can be diagnosed and treated early through dietary interventions. Patients substantially benefit from early diagnosis and appropriate disease monitoring.

The incidence of IEM in Hong Kong is 1 in 1682 newborns.1 In response to public health concerns, a territory-wide free voluntary Newborn Screening Programme for IEM (NBSIEM) was implemented for all newborns born in public birthing units, beginning in 2017.2 This programme covers 27 conditions, including severe combined immunodeficiency (SCID).3 Spots of blood are collected from newborns within 24 to 72 hours after birth, preferably following 24 hours of milk feeding, using a heel prick test; these samples are discarded after hospital laboratories perform quality control and assurance monitoring (online supplementary Table 1).

The materials on dried bloodspots provide clinical benefits and lifelong healthcare research opportunities that are advantageous to individuals and the population. However, the retention and use of residual DBS (rDBS) has led to controversies regarding privacy, transparency, consent, misuse of, and unauthorised access to information, unclear research purposes, and the absence of data management and governance protocols.4 Despite these concerns, it is common for rDBS to be routinely stored and used for research purposes in some regions. For example, in Denmark, a nationwide newborn screening programme was implemented in 1975; it currently screens for 17 diseases.5 Samples are stored indefinitely with consent in the Danish Newborn Screening Biobank at the State Serum Institute.6 Similarly, a programme in the Netherlands screens for 31 conditions.7 Although participation is voluntary, the participation rate has reached 99.3%.8 In the Netherlands, rDBS samples are stored for 1 year to facilitate quality control. Most samples are stored for an additional 4 years for secondary uses, such as disease-specific biomedical research and patient-specific diagnostic purposes, after the acquisition of parental consent.9 The International Society for Neonatal Screening compared national newborn screening policies, revealing great variation in programme acceptance, consent procedure, storage, and length of storage.8 The Society’s findings highlight the importance of incorporating local views during policy development.

Two empirical studies in Hong Kong revealed that parents were unaware of the expanded newborn screening programme and the potential value of rDBS.10 11 The secondary use of rDBS in medical and health research is well-supported, mainly on the basis of altruism. However, participation does not provide direct individual benefits. Factors contributing to parental support towards retention and secondary use of rDBS include parental consent and trust in the relevant authority. If explicit permission is obtained, parents are more willing to contribute their child’s rDBS card. An opt-out approach and broad consent for unspecified use were considered unfavourable options.11 Although multiple rDBS-focused studies in Hong Kong have included public stakeholders, few have assessed the attitudes of healthcare professionals (HCPs)12; none have been conducted since implementation of the territory-wide screening programme. To address this gap, the present study explored views of the NBSIEM and the factors associated with retention and secondary use of rDBS cards among HCPs in Hong Kong.

Semi-structured interviews were conducted among 30 HCPs in obstetrics, paediatrics, and chemical pathology practising in eight public and two private institutions in Hong Kong between August 2021 and January 2022. Purposeful sampling was used to select key stakeholders involved in the NBSIEM according to disciplines and responsibilities. Initial invitations were sent through the two local medical universities (ie, The University of Hong Kong and The Chinese University of Hong Kong) and associated hospitals. Referrals via snowballing were also performed to recruit additional participants.

The study inclusion criteria were academics and HCPs (eg, medical, nursing, and laboratory staff) involved in IEM-related research or clinical work. Individuals who did not meet the criteria were excluded. Overall, this study recruited participants who were involved in recruitment and counselling within the NBSIEM, laboratory data analysis and interpretation, or academic research related to IEM.

Each participant received a detailed description of the research. All participants gave written informed consent before taking part in the study. The second author conducted the interviews at locations convenient for participants, such as meeting rooms, offices, and coffee shops. The interview length ranged from 37 to 71 minutes. Upon completion of the interview, each participant received a supermarket voucher for HK$200.

A semi-structured topic guide was developed based on existing literature concerning newborn screening and ethical considerations (Table).4 11 12 13 14 15 Prior to data collection, the guide was reviewed by a senior paediatrician to ensure its content validity, relevance, clarity, and cultural sensitivity.

Interviews were digitally recorded, transcribed verbatim in the original language (Cantonese), and then translated into English. Transcripts were anonymised and assigned an identification code. The interviewer and another member of the research team reviewed the transcription accuracy. Two independent researchers read and coded the transcripts and audio recordings via thematic analysis, in which textual data were coded and labelled in an inductive manner. New thematic codes that did not fit into predetermined categories were created and refined, as necessary. Codes were compared and discussed among research members until a consensus was reached. Reflexivity was maintained during the discussion and data analysis process. The entire research team identified emerging themes from the early and intermediate stages of interviews, then recruited HCPs to represent each new theme until theoretical saturation was achieved (ie, no new themes emerged in the discussions and existing themes were consistently observed).

Thirty HCPs were recruited and interviewed. The study sample was diverse. Among the interviewees, 15 (50.0%) were doctors and 13 (43.3%) were nurses or midwives; 13 (43.3%) worked in obstetrics and gynaecology and 13 (43.3%) worked in paediatrics; 28 worked in the public sector (93.3%); and 14 (46.7%) had >10 years of clinical experience (online supplementary Table 2). Two major thematic themes were identified, namely, views towards the current NBSIEM and views towards the retention and secondary use of rDBS. Illustrative quotations are used to support the themes.

The implementation of the NBSIEM was a public health achievement, and interviewees showed a positive attitude towards the programme. Early detection and improved health outcomes were the most commonly reported clinical utility outcomes (n=21, 70.0%). Some interviewees, primarily paediatric HCPs, noted a difference between the periods before and after territory-wide test implementation. Before NBSIEM, it was not uncommon for doctors working in intensive care units to encounter cases of acute decompensation due to undiagnosed IEM. Considering the broad phenotypes involved in IEM, such conditions may not be recognised in early stages.

Affected families previously endured a long wait for diagnosis before the NBSIEM; there was a substantial psychological burden involved. Parental distress was observed.

Some limitations were noted, including false-positive and false-negative results, as well as call-back rates. Interviewees cited the reduction of recall caseloads as an advantage associated with implementation of second-tier tests.

The programme covers 27 conditions, including SCID.3 Interviewees generally agreed that the benefits of screening for lethal IEM conditions outweigh the costs of screening, despite the very low incidence of IEMs. When asked about their views on the current panel, interviewees emphasised that disease selection must be based on public health principles, supported by Wilson and Jungner’s screening criteria.16 Diseases in the panel should be treatable and have a high prevalence in Hong Kong.

Healthcare professionals have encountered parents who have completed the publicly funded IEM test and selected an additional private IEM test solely based on the number of conditions. For such parents, the underlying motivation is that ‘screening more conditions is perceived to be more definitive’.

One paediatrician questioned whether a genetic test with a larger number of conditions contributes to enhanced parental control and confidence regarding the newborn’s health. She was aware of some urine tests available in the direct-to-consumer market that screen for so-called ‘non-diseases’—short-/branched-chain acyl-coenzyme A dehydrogenase and 3-methylcrotonyl-coenzyme A carboxylase deficiency—although such conditions do not require follow-up. She highlighted the importance of periodically reviewing conditions on the panel according to locality-specific factors, including disease prevalence, clinical sensitivity and specificity, treatment, and cost-effectiveness.

Three HCPs (10.0%) reported that most Hospital Authority staff received NBSIEM information through departmental seminars and training sessions, which prepared them to complete the consent procedure with parents. When asked about their understanding of IEMs, knowledge levels varied among frontline staff involved in the NBSIEM. Some were uncertain what the test evaluated.

Some also mistakenly thought that the NBSIEM analysed genes.

Some frontline staff wanted additional information beyond the procedure. They felt unprepared for questions about the diseases, symptoms, test procedures, and care for patients with IEMs. They felt anxious or uncomfortable explaining these aspects to parents with some level of understanding.

A senior doctor responsible for providing educational seminars noted that training should not be an isolated event; periodic refresher training should be provided.

Interviewees felt that the educational pamphlet and consent material are easy to read. During parental counselling, HCPs were prepared to answer parents’ enquiries. Most parents supported the NBSIEM. Parents wanted to identify IEM conditions in their newborns because they felt that early detection could facilitate autonomous decision-making related to their child and other family members.

Midwives played an important role in obtaining parental consent in antenatal clinics. Refusals of the current NBSIEM are infrequent. Five frontline staff (16.7%) involved in the recruitment process observed that only a small number of parents, who were sceptical about medical interventions or had religious affiliation–based reservations, declined to join the programme.

Participants involved in recruitment recognised that informed consent procedures were intended to enable parents to make informed choices. The current opt-in consent approach allows HCPs to obtain explicit permission from parents. The participants observed that parents, especially Hong Kong Chinese individuals, were vocal about the patient’s right to know.

In particular, six HCPs (20.0%) speculated that opt-in consent was more accepted by parents and thus easier to obtain. It provided parents with a sense of personal control by allowing them to give explicit permission. Opt-in consent has been used in many medical settings. It is more familiar to and accepted by community members with respect to studies of genetic material.

Seven HCPs (23%) felt that consent was needed because of the invasiveness of the procedure, but some HCPs felt that the procedure involved minimal harm.

Opt-in consent was perceived to be more efficient. There may be opposition to an opt-out approach. Some HCPs (n=6, 20.0%) felt that an opt-out approach would increase sample sizes and contribute to advances in medical research.

One doctor pondered the adoption of different methods in obtaining informed consent because opt-in and opt-out approaches are ‘like two sides of the same coin’. He stated that the key aspect of selecting an appropriate consent approach is the parental counselling process. He also emphasised that the consent procedure is not absent from the opt-out approach and that effective communication remains important.

When a confirmed IEM diagnosis was disclosed to an affected family, parents often felt shocked, stressed, and guilty about having an ‘abnormal’ baby. They then began to explore the financial implications; for example, some worried about treatment costs and uncertainties. Counselling is limited to discussing the diagnosis; it also includes psychological support through follow-up care involving a multidisciplinary team.

On some occasions, the NBSIEM is beneficial to the newborn and has implications for the entire family. Some interviewees reported disclosing an IEM result relevant to the mother, rather than the infant. In one case, the HCP informed the involved family members and provided follow-up care for the newborn’s siblings.

Interviewees were asked about their views of rDBS storage. Healthcare professionals supported the long-term storage of rDBS through the NBSIEM to facilitate advances in public health epidemiology, forensic purposes, familial disease analysis, and development of other screening tests. Some HCPs highlighted the importance of rDBS in supporting scientific advances. Stored rDBS could be used to enhance healthcare management and clinical testing, such as establishment of local reference standards.

Healthcare professionals observed that most parents demonstrated substantial interest in knowledge about their children. They thought that parents would like to have the right to obtain medical information regarding their children.

Four HCPs (13.3%) were worried that the public lacked an understanding of how rDBS could generate knowledge. This lack of awareness may be linked to an unwillingness among parents to permit the use of their children’s rDBS samples.

Two-fifths of HCPs (n=12) questioned the need for the long-term storage programme.

Interviewees believed that genetic material is very stable and does not easily degrade, despite long storage periods. Although storage is possible, some concerns were raised about its cost-effectiveness.

Around one-fourth of HCPs (n=7, 23.3%) would only support clinical research if the findings could be used to help their children and patients. Parents were not expected to be interested in research, especially if it did not provide direct clinical benefit to their children.

Another recurring theme was trust in the context of primary privacy concerns, such as data leakage and misuse of private information generated from sensitive genetic materials.

Generally, around 30% of the interviewed doctors and researchers (n=9) believed they have a duty to warn research participants upon finding abnormalities, enabling parents to take appropriate action after receiving relevant test results, including secondary findings.

The importance of consent was acknowledged, but there was disagreement concerning the need for broad or specific consent. Interviewees frequently noted that broad consent is convenient for researchers.

Despite the view that broad consent may permit more efficient use of biospecimens and relevant data, there were concerns about public acceptance. Some interviewees stated that it would be challenging to obtain consent for all future research and explain the need for a change in consent approach.

For HCPs, the legitimacy and scope of consent are key considerations. Specific consent is commonly exercised in clinical or research procedures in Hong Kong. It is recognised as the most appropriate procedure because it ensures patients receive information about the study. A few interviewees mentioned that no existing framework recommends the use of broad consent; thus, they favoured the use of specific consent.

The level of public knowledge regarding the NBSIEM requires further analysis. Education and counselling might be intended to address problems that arise from long-term storage. One doctor emphasised that proper counselling on tests involving genetic material should be considered best practice. Some interviewees expressed a desire to prepare themselves to address parents’ concerns.

This study explored the voices of HCPs from various backgrounds and discussed clinical and ethical issues during the early implementation phase of the NBSIEM. Similar to professionals in the United Kingdom,13 HCPs in Hong Kong did not exhibit extensive knowledge and awareness of IEM conditions, which may have detrimental effects on patient-centred care. First, parental autonomy might be undermined because parents are not adequately informed about the test procedure and conditions. Second, a lack of understanding regarding IEMs can lead to suboptimal clinical care. Children with IEMs attend multiple specialist clinics to manage multiple co-morbidities. Caregivers encounter difficulties, such as miscommunication or inconsistent information about medications or dietary restrictions, when attending non–IEM-specific clinics.14 They face numerous psychosocial challenges in caring for their children,15 17 and increased awareness of these stressors among healthcare providers could improve communication for the entire family. More than four-fifths of individuals in Hong Kong attend medical services at public hospitals,18 and many parents are expected to participate in the NBSIEM. The establishment of training or educational interventions and a centralised pipeline to coordinate care are essential considerations for patient-centred care that focuses on caregivers of children with IEMs. Because hospitals are expanding screening for other uncommon disorders, such as SCID,19 the results of the present study may inform the development of a family-oriented framework for IEM management.

Development of the current NBSIEM was based on a stringent infrastructure and second-tier testing pipeline.20 Samples with borderline or ambiguous results were sent for further genetic tests to confirm the diagnosis and carrier status. Carnitine deficiency, citrin deficiency, methylmalonic acidaemia, and glutaric aciduria type I are examples of diseases with relatively high incidences of false-positives or false-negatives.1 21 After the implementation of stringent second-tier tests, the recall rate has declined to 0.3% to 0.4%, similar to the standards of international IEM programmes.22 This work has been successful, and the retention of rDBS to create a large-scale genetic biobank will be the next focus of public health dialogue.

It is important to note that territory-wide biobanks are not common; biobank platforms in Hong Kong currently are operated by individual hospitals or institutions. A notable example is Children of 1997, a population-based birth cohort study of local infants.23 Other existing platforms include disease-oriented biobanks,24 which support quality assurance and conduct epidemiology studies; they also identify risk factors, novel molecular markers, and genetic variants associated with diabetes and related complications. The establishment of biobanks at separate institutions has led to non-standardised informed consent practices. Many ethical and legal issues remain unresolved in efforts to harmonise all regional biobanks. Public awareness of the value of rDBS has been low11; improvements in public acceptance and engagement are needed for broad support of rDBS storage or biobanks.

The present study highlighted common ethical, legal, and social concerns as barriers to the storage of rDBS. Trust and low awareness of the potential value of rDBS were cited as primary barriers. In contrast to the assumptions of HCPs, parents generally agree with academic researchers and doctors accessing their children’s rDBS and health data after explicit consent has been provided.11 The optimal consent model for the use of rDBS outside of screening purposes depends on cultural and social characteristics that vary among regions. In the past three decades, some countries have stored rDBS without consent, leading to public controversy and lawsuits.25 Considering these situations, the retention of rDBS requires inherent trust based on public support, with strict clinical and ethical parameters. Essential factors in establishing trust are consent to participate in the NBSIEM, as well as consent for rDBS retention and secondary uses; questions remain regarding the optimal approach to obtaining consent.25 Other factors involved in decision-making concerning rDBS retention and secondary uses include timing of consent, adequate communication and discussion of potential uses, protection of privacy, and responsible governance.9 11 26 These factors should be considered in public policy initiatives.

Concerns about privacy issues and discrimination related to genomic information will be amplified as next-generation sequencing is integrated into clinical care for newborns.27 28 In South Korea, next-generation DNA sequencing has been evaluated for use in primary newborn screening.29 In the United Kingdom, Genomics England plans to offer whole-genome sequencing to newborns, identifying actionable genetic conditions that may impact infants in early childhood.30 There is evidence that sequencing data provides information about conditions not currently assessed in newborns, as well as information with unclear clinical significance.29 The previous regime agreed that it was appropriate to disclose incidental research findings if they would directly benefit the child after considering risk and benefit. However, this approach may differ in cultural and social settings when considering the child’s future and non-therapeutic genomic information.

Most participants in this study were HCPs working in the public sector; they may have different views regarding clinical utility, value, and perceived cost-benefit, compared with stakeholders from other healthcare settings. However, this study used various sampling strategies to recruit a heterogeneous group of HCPs with diverse specialities, roles, and responsibilities in the screening programme, as well as years of experience. A longitudinal study would provide long-term insights concerning the NBSIEM. Knowledge of heterogeneous IEMs and perception of rDBS storage among HCPs could be analysed via quantitative methods.

This study highlighted HCPs’ concerns about the NBSIEM and uncertainties regarding the handling or utilisation of rDBS. Policymakers should consider these concerns when establishing new guidelines. Future investigations should explore parents’ experiences with screening for rare metabolic conditions and communication of positive results.

Concept or design: OMY Ngan.
Acquisition of data: CJ Tam.
Analysis or interpretation of data: All authors.
Drafting of the manuscript: OMY Ngan, CJ Tam.
Critical revision of the manuscript for important intellectual content: CK Li.

All authors had full access to the data, contributed to the study, approved the final version for publication, and take responsibility for its accuracy and integrity.

All authors declared no conflicts of interest.

The authors thank all healthcare professionals who participated in the study.

This research was supported by the Direct Grant for Research from the Faculty of Medicine at The Chinese University of Hong Kong (2020/2021) [Ref No.: 2020.081]. The funder had no role in study design, data collection/analysis/interpretation or manuscript preparation.

The research was approved by the Survey and Behavioural Research Ethics Committee of The Chinese University of Hong Kong (Ref No.: SBRE-20-846). All participants provided written consent for interview and publication of the study.

The supplementary material was provided by the authors and some information may not have been peer reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by the Hong Kong Academy of Medicine and the Hong Kong Medical Association. The Hong Kong Academy of Medicine and the Hong Kong Medical Association disclaim all liability and responsibility arising from any reliance placed on the content.

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