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High-throughput sequencing technologies enable the simultaneous analysis of multiple genes or the entire genome in a single run and are increasingly used for the detection of clinically relevant genetic alterations. This assessment evaluated the clinical effectiveness, safety, and economic, organisational, and ethical aspects of high-throughput sequencing for the detection of PIK3CA, AKT1, PTEN, and ESR1 genetic alterations in breast cancer diagnostics. The target population comprises adults diagnosed with HR+/HER2–, locally advanced or metastatic breast cancer.

Carrier screening is a screening strategy designed to identify asymptomatic individuals who carry pathogenic variants for autosomal recessive and X-linked hereditary conditions. This assessment evaluated the clinical effectiveness, safety, economic, organisational, and ethical aspects of different carrier screening strategies: universal versus risk-based approaches and single-disease panels versus expanded carrier screening (ECS). The target population comprised reproductive-age individuals and pregnant women.

Technological advances in genetic testing expand clinical care, yet necessitate evidence-based decision-making. This scoping review establishes the methodological basis for topic prioritisation in Austria by mapping application fields and analysing international evidence-based reimbursement processes. This report is the first part within the project Genetic Testing in Austria and informs topic prioritisation for two assessments in the field.

Reliable cost data is the cornerstone of informed healthcare decision-making. This project analyses international guidelines to map best practices in costing processes. On this basis, well-founded recommendations for the evaluation of health care services can be derived, promoting comparability and transparency.

Polypharmacy poses major challenges to medication safety, particularly for older people with multimorbidity. This report summarises the current evidence on the effectiveness, safety, organisational aspects and costs of structured medication reviews (SMRs). It also compares implementation models across selected European countries.

Lysosomal storage diseases such as Pompe disease and mucopolysaccharidoses (MPS I, II, IVA) are rare inherited metabolic disorders leading to multi-organ involvement. This systematic review assessed the long-term effectiveness and safety of enzyme replacement therapies (ERTs) currently approved for these conditions (alglucosidase alfa, avalglucosidase alfa, laronidase, idursulfase, elosulfase alfa). Due to predominantly small, uncontrolled studies, heterogeneous study designs, methodological limitations, and a lack of comparability between studies, the overall certainty of the identified evidence is very low. Consequently, a reliable and definitive assessment of long-term effectiveness and safety is currently not possible for the ERTs evaluated. The use of ERT therefore requires careful patient selection, structured monitoring and documentation with the collection of standardized endpoints, as well as predefined criteria for continuation or discontinuation of therapy.

Artificial intelligence (AI) is increasingly used in diagnostic imaging to support image interpretation, prioritise examinations, and improve clinical workflows. In the context of rising imaging volumes and limited human resources, AI-supported digital health technologies (DHTs) are discussed as potential tools to alleviate pressures on radiology services; however, their benefit for healthcare delivery has not yet been systematically assessed.

The aim of this work was to identify and prioritise AI-supported DHTs relevant for Austrian hospitals and to systematically evaluate the prioritised application with regard to clinical effectiveness, organisational implications, and resource requirements. Following a stakeholder-based prioritisation process, an AI-supported application for analysing chest X-ray images in patients with suspected lung cancer was selected. The evidence base comprised three health technology assessments and two additional primary studies. No patient-relevant clinical outcomes were reported, and evidence on diagnostic performance, organisational effects, and costs was limited.