Authors' objectives: Health economic assessments are used to determine whether the resources needed to generate net benefit from an antenatal or newborn screening programme, driven by multiple benefits and harms, are justifiable. It is not known what benefits and harms have been adopted by economic evaluations assessing these programmes and whether they omit benefits and harms considered important to relevant stakeholders. (1) To identify the benefits and harms adopted by health economic assessments in this area, and to assess how they have been measured and valued; (2) to identify attributes or relevance to stakeholders that ought to be considered in future economic assessments; and (3) to make recommendations about the benefits and harms that should be considered by these studies. National population screening programmes are implemented in the NHS on the advice of the United Kingdom National Screening Committee (UK NSC), which makes independent, evidence-based recommendations to ministers in the four countries of the UK. The recommendation to adopt a screening programme on a national scale is based on the premise that the benefits associated with the programme outweigh the harms to all relevant stakeholders. Screening committees require up-to-date evidence of these benefits and harms, as well as data demonstrating that the screening programme represents value for money. The latter is determined using a health economic assessment confirming that the additional costs to the NHS of implementing the programme and any unavoidable harms associated with it are justified by the benefits achieved, which are usually evaluated through outcome measures such as the incremental cost per quality-adjusted life-year (QALY) gained metric. Although there is established guidance on best practice for economic assessments of screening programmes in general (such as economic modelling), such guidance does not address the challenge of how the full range of potentially relevant benefits and harms can be incorporated into a single assessment, nor does it specifically focus on antenatal and newborn screening. Guidance in this area, therefore, remains limited. The overall objectives of this programme of work were to: enhance knowledge about methods for the identification and valuation of benefits and harms within economic assessments of antenatal and newborn screening identify attributes of relevance to stakeholders (parents/carers, health professionals, other relevant stakeholders) that should be considered for incorporation into future economic assessments using a range of qualitative research methods make recommendations about the benefits and harms that should be considered by economic evaluations and the health economic tools that could be employed for this purpose.

Authors' results and conclusions: The literature searches identified 52,244 articles and reports, and 336 unique studies were included. Thematic framework resulted in seven themes: (1) diagnosis of screened for condition, (2) life-years and health status adjustments, (3) treatment, (4) long-term costs, (5) overdiagnosis, (6) pregnancy loss and (7) spillover effects on family members. Diagnosis of screened-for condition (115, 47.5%), life-years and health status adjustments (90, 37.2%) and treatment (88, 36.4%) accounted for most of the benefits and harms evaluating antenatal screening. The same themes accounted for most of the benefits and harms included in studies assessing newborn screening. Long-term costs, overdiagnosis and spillover effects tended to be ignored. The wide-reaching family implications of screening were considered important to stakeholders. We observed good overlap between the thematic framework and the qualitative evidence. There is no consistency in the selection of benefits and harms used in health economic assessments in this area, suggesting that additional methods guidance is needed. Our proposed thematic framework can be used to guide the development of future health economic assessments evaluating antenatal and newborn screening programmes. Systematic review and development of taxonomy of benefits and harms to use in future health economic assessments We identified 52,244 articles and reports from the searches of the published and grey literature and included 336 records in the data extraction. The majority of the records were journal articles, with almost half conducted in the USA or UK. Genetic conditions and infectious diseases were the main areas covered by the articles and reports assessing antenatal screening, while metabolic and structural conditions were the main areas covered in the evaluations of newborn screening programmes. Decision-analytical models were employed in 272 (81.0%) of the articles and reports, while 117 (43.0%) used a lifetime time horizon. Almost half of the studies conducted a cost–utility analysis reporting incremental cost per QALY values (167, 49.4%). The costing perspective adopted was not stated in 117 (33.7%) articles and reports. Reporting quality assessed using the CHEERS checklist was heterogeneous. The top five items not satisfied among the studies for antenatal screening programmes were ‘Abstract’ (160, 88.4%), ‘Time horizon’ (153, 84.5%), ‘Choice of model’ (153, 84.5%), ‘Discount rate’ (130, 71.8%) and ‘Study funding, limitation, generalisability and current knowledge’ (123, 68.0%). The top six items not satisfied among newborn screening programme studies were ‘Abstract’ (69, 83.1%), ‘Time horizon’ (67, 80.7%), ‘Study funding, limitation, generalisability and current knowledge’ (59, 71.1%), ‘Choice of model’ (55, 66.3%), ‘Discount rate’ (53, 63.9%) and ‘Setting and location’ (53, 63.9%). The top five items satisfied among the studies for both antenatal and newborn screening programmes were ‘Background and objectives’ (264, 100%), ‘Target population and subgroups’ (264, 100%), ‘Choice of health outcomes’ (263, 99.6%), ‘Measurement of effectiveness’ (260, 98.5%) and ‘Estimate resources and cost’ (247, 93.6%). We identified 86 unique descriptions of consequences associated with benefits and harms across all articles and reports. Our thematic analysis resulted in seven core themes of benefits and harms: (1) diagnosis of screened for condition, (2) life-years and health status adjustments, (3) treatment, (4) long-term costs, (5) overdiagnosis, (6) pregnancy loss and (7) spillover effects on family members. Diagnosis of screened-for condition (115, 47.5%), life-years and health status adjustments (90, 37.2%) and treatment (88, 36.4%) accounted for most of the benefits and harms evaluating antenatal screening. The same themes accounted for most of the benefits and harms included in studies assessing newborn screening. Overdiagnosis and spillover effects tended to be ignored. Only 10 out of the 242 (4.1%) antenatal screening evaluations adopted benefits and harms from all of themes 1–4, whereas only 9 out of the 95 (9.5%) newborn screening evaluations adopted benefits and harms from all of themes 1–4. Benefits and harms of antenatal and newborn screening are complex and multidimensional, and they have generally been incorporated in a haphazard manner into economic evaluations. Our work suggests that there is an immediate need to provide methods guidance for researchers conducting these types of studies in future work. Our proposed framework of benefits and harms can be used as a starting point to guide the development of health economic assessments evaluating antenatal and newborn screening for specific conditions and to prevent exclusion of important harms. It is important that future economic evaluations in this area incorporate benefits and harms of spillover effects to family members, as this was considered very important to the stakeholders consulted during the study. The QALY remains a common approach for capturing the benefits and harms associated with antenatal and newborn screening programmes. This study identifies a range of benefits and harms that should be considered for inclusion within future economic assessments and provides preliminary evidence of the feasibility of applying alternative economic valuation methods in this area.

Authors' methods: Mixed methods combining systematic review and qualitative work. Dual data extraction within the systematic literature review was not feasible due to the large number of studies included. It was difficult to recruit healthcare professionals in the stakeholder’s interviews. Systematic review and development of thematic framework of benefits and harms to use in future health economic assessments A systematic review of the published and grey literature of articles and reports published after January 2000 was conducted to identify health economic assessments evaluating antenatal and newborn screening programmes in one or more of the Organisation for Economic Co-operation and Development (OECD) countries (see Chapter 3). A protocol for this review was registered with PROSPERO (CRD42020165236) and published in January 2020. The Population, Intervention, Comparator, Outcome and Study design (PICOS) framework was used to develop the study eligibility criteria and applied to the literature searches. No language restrictions were imposed. The published literature was searched using a comprehensive selection of electronic bibliographic databases. The academic electronic database search was supplemented by manual reference searching of bibliographies, contacts with experts in the field and author searching. The list of sources of grey literature searched was informed by a recent systematic review of national policy recommendations on newborn screening. Two independent reviewers assessed the suitability for inclusion of outputs identified in the published and grey literature. A data extraction sheet was created including: (1) items from the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) checklist, and (2) a bespoke form created by the research team to extract benefits and harms adopted by economic assessments evaluating antenatal and newborn screening programmes. The information captured in the bespoke form was used to develop a framework of benefits and harms adopted by health economic assessments using a number of themes grouped into categories based on an integrative descriptive analysis (see Chapter 4). Benefits and harms reported by articles and reports were categorised into themes and subtheme(s) according to the condition and screening type, using this thematic framework.

Project Status: Completed

URL for project: https://www.journalslibrary.nihr.ac.uk/programmes/hta/NIHR127489

Year Published: 2024

URL for published report: https://www.journalslibrary.nihr.ac.uk/hta/PYTK6591/#/abstract

URL for additional information: English

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: England, United Kingdom

DOI: 10.3310/PYTK6591

Organisation Name: NIHR Health Technology Assessment programme

Contact Address: NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK

Contact Name: journals.library@nihr.ac.uk

Contact Email: journals.library@nihr.ac.uk