Authors' objectives: Technological advances in multi-target genetic testing necessitate evidence-based integration into clinical care. This scoping review establishes the methodological basis for prioritising genetic test assessments for Austrian decision-makers and informs two subsequent HTA reports.

Authors' results and conclusions: A total of 49 reports from 15 organisations were identified, with the highest number of HTA reports in Canada (n=14), the United Kingdom (n=11), and Australia (n=7). Reports cover four application fields: diagnostic testing (n=14, including familial hypercholesterolaemia, rare diseases, inherited cardiac conditions), clinical predictive testing (n=8, including carrier screening, newborn screening), pharmacogenomic testing (n=11, including psychiatry, stroke management), and tumour testing (n=16, including lung cancer, breast cancer, haematological malignancies). Most genetic tests (43/49) were positioned as add-ons to existing approaches. England, Australia, and Ontario pursue indication-specific approaches. England maintains a National Genomic Test Directory with over 280 indications and dual evaluation pathways (NHS England, NICE). Australia documents 123 submissions since 2002 using a Clinical Utility Card emphasising actionable results. Ontario operates a Genetic Test Directory with over 600 tests using genetics-specific prioritisation criteria. The workshop with Austrian decision makers identified three core criteria for priority setting for HTA of genetic tests: (1) Clinical actionability (extent to which a test leads to changes in patient management), (2) Resource intensity (organisational and economic burden, particularly regarding data storage and genetic counselling), and (3) Indication volume (frequency of test requests). A preliminary scoring system with double weighting of clinical actionability yielded 16 (out of 49 HTA reports) highly prioritised topics across all application fields.

Authors' recommendations: For Austria, formalising existing genetic testing practice through granular, indication-specific criteria is recommended. A pragmatic first step would be the establishment of steering committees (including experts in genetics, pathology, and laboratory medicine) to develop an indication-specific catalogue based on current standard of care, with annual updates and formal evidence reports for selected indications – an approach successfully implemented in England. Such a process requires transparent governance structures and regular review cycles aligned with evolving clinical evidence. Once a formalised evidence-based reimbursement process is established, the developed prioritisation criteria – clinical actionability, resource intensity, and indication volume – can serve as initial reference. However, broader consultation and iterative refinement through systematic engagement with multidisciplinary stakeholder groups will be essential prior to the formal adoption for topic prioritisation within such a process.

Authors' methods: A systematic search (INAHTA, Cochrane; 2020–2025), a manual search (in 14 HTA websites) and a review of international reimbursement processes were conducted. A multidisciplinary workshop with Austrian stakeholders developed prioritisation criteria.

Project Status: Completed

URL for project: https://aihta.at/page/humangenetische-untersuchungen-in-oesterreich-ein-ueberblick-ueber-massiv-parallele-sequenzierung-mps-anwendungsfelder-nutzen-und-implikationen-fuer-die-versorgung/en

Year Published: 2026

URL for published report: https://eprints.aihta.at/1602/1/HTA-Projektbericht_Nr.176a

URL for additional information: https://eprints.aihta.at/1602

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: Austria

Organisation Name: Austrian Institute for Health Technology Assessment

Contact Address: Josefstaedter Strasse 39, A-1080 Vienna, Austria

Contact Name: office@aihta.at

Contact Email: office@aihta.at