Evaluating genetic and genomic tests for heritable conditions in Australia: lessons learnt from health technology assessments

Abstract

The Medical Services Advisory Committee (MSAC) is an independent non-statutory committee established by the Australian government to provide recommendations on public reimbursement of technologies and services, other than pharmaceuticals. MSAC has established approaches for undertaking health technology assessment (HTA) of investigative services and codependent technologies. In 2016, MSAC published its clinical utility card (CUC) Proforma, an additional tool to guide assessments of genetic testing for heritable conditions. We undertook a review and narrative synthesis of information extracted from all MSAC assessments of genetic testing for heritable conditions completed since 2016, regardless of the HTA approach taken. Ten assessments met our inclusion criteria, covering a range of testing methods (from gene panels to whole-exome sequencing) and purposes (including molecular diagnosis, genetic risk assessment, identification of congenital anomaly syndromes, and carrier screening). This analysis identified a range of methodological and policy challenges such as how to incorporate patient and societal preferences for the health and non-health outcomes of genomic testing, how best to capture the concept of co-production of utility, and how to engage clinicians as referrers for genomics tests whilst at the same time ensuring equity of access to a geographically dispersed population. A further challenge related to how qualitative assessments of patient and community needs influenced the evidence thresholds against which decisions were made. These concepts should be considered for incorporation within the value assessment frameworks used by HTA agencies around the world.

HTA community perspectives on the use of patient preference information: lessons learned from a survey with members of HTA bodies

“…While patient preference data are not systematically incorporated within the Australian HTA process, there have been recorded instances where patient preference data evidence has supported PBAC’s recommendations for a new therapy (7). Furthermore, there has been a push from other Australian HTA bodies, including the Medical Services Advisory Committee, for patient preference data generation in specific areas, such as genomic testing (8) – a national co-designed preference project is currently underway to address this call for evidence (9).…”

“…Quality of the decision (0-10) 7 (5)(6)(7)(8) Outcome of the decision (0-10) 6 (5-8) review process for HTA by 82.5 percent of the participants, and 39.4 percent reported that most of the technology/drugs appraisals and assessments in the past 12 months had submitted patient preference data. This is an encouraging finding confirming the fact that HTA bodies are willing to incorporate patient preference data in HTA decision-making as supportive evidence (2;6).…”

Patient and Clinician Preferences for Genetic and Genomic Testing in Non-Small Cell Lung Cancer: A Discrete Choice Experiment

“…Unfortunately, this is still the case for patients with NSCLC in Australia, with NGS remaining unfunded, despite there being a clear benefit for both the clinician and patient [ 4 , 15 ]. Typically, single-gene tests have been approved by the Medical Services Advisory Committee (MSAC) as they have been designed to establish eligibility for subsidised treatments (so-called co-dependent technologies) [ 17 ]. Since 2015, MSAC has emphasised the clinical utility of the test, with an importance placed on the test producing an actionable result, that is, one which leads to changes in health decisions and consequent treatment outcomes for patients [ 17 ].…”

Resource allocation in genetic and genomic medicine

“…Two further articles describe how genetic and genomic tests are currently evaluated in health technology assessments (HTAs), and consider how robust use of real-world data could support HTA processes going forward. Norris et al present a review and narrative synthesis of information extracted from assessments of genetic and genomic tests for heritable conditions conducted by the Medical Services Advisory Committee (MSAC) in Australia (Norris et al 2021). Multiple methodological and policy challenges were identified across ten assessments, including how to incorporate stakeholder preferences for health and non-health outcomes of testing into these assessments, and how patient and community needs could (or should) inform decision-making thresholds.…”

“…First, appropriately valuing the health and non-health outcomes of health technologies is a persistent challenge at the intersection of economics and ethics in HTA and resource allocation, and is a challenge to which the example of genetic and genomic testing brings particular attention. The optimal approach is yet to emerge, although there may be merit in countries adopting an approach similar to the Australian model outlined by (Norris et al 2021). Second, few studies have effectively included the wider economic impacts of genome sequencing in resource allocation analyses; an improved evidence base on this topic could help countries to make better informed decisions in the future regarding investments in sequencing capacity.…”