Consistent approaches to decisions about what genomic services are funded and to which groups within a population are critical to ensuring equity of access and to realise the public health gains. Sound medical information and economic evidence are needed by funders to make decisions about reimbursement of genomic testing. It is also recognised that reimbursement for tests and paired therapies needs to provide fair reward for research and risks taken by diagnostic and drug development companies. As a whole, the health system including patients, payers and manufacturers needs affordable healthcare. 

To date single gene tests with actionable results, such as cystic fibrosis testing, have been the most commonly covered tests by payers. In comparison, coverage of panel tests has been more inconsistent in part because the panels contain low and moderate risk genes, along with higher risk genes, and there is often no consensus on the impact of the low or moderate risk genes in clinical management (Chambers et al.2017). In addition, the presences of both validated gene sequences and unvalidated gene sequences in panels can mean that in the US the payer determines the entire panel is investigational. This means that coverage cannot be provided because payers must determine that a technology is “medically necessary” to grant coverage (Trosman et al. 2015). This issue also arises for whole exome or whole genome sequencing.

A team of collaborators from multiple institutions in the US, with funding from the National Human Genome Research Institute, developed the TRANSPERS Payer Coverage Registry©. The Registry synthesises payer coverage policies on multi-gene panels and sequencing tests (“panels”) in order to assess which panels are covered by payers, what factors relevant to coverage decisions are discussed in policies, and how coverage policies vary. Using this registry, the team have published six analyses which are included in the list below.

Degtiar 2017 published a review which compared evaluation tools and criteria used by 42 countries for making coverage and pricing decisions for personalised medicine and orphan drugs on the basis that payers’ experience with orphan drug reimbursement could be used to inform the process for personalised therapies such as genetically targeted diagnostics. The review found that while studies of orphan drugs were conducted across all countries included in the review, personalized medicine pricing and coverage was primarily evaluated solely in the US with only 4 reviews identified that discussed decisions in other countries. These countries being UK, Germany, Europe and Australia. The review concluded that developers lack clarity as to what constitutes “quality evidence” with clearer payer guidelines needed and payers need stronger comparative effectiveness evidence from drug and test developers. Degtiar suggests that effectiveness evidence could be aided by establishing national registries that could help identify subjects for studies and assist with post-market surveillance.

There are challenges in funding/reimbursement decisions around needing to set and accept thresholds for evidence. This issue arises for a number of reasons in relation to genomic testing, for example, the fact that benefits (and harms) may accrue downstream of the testing, that is, in another member of the family or at some time much later i.e. in the case of reproductive planning. New models of gathering data are needed to capture and understand costs beyond those of the genomic test, such as cost implications for care in the near term (e.g. choice of drug, or number of hospitalizations) and in the long term (e.g. additional screening/monitoring) and also in areas where genomics will not have an obvious comparator or current standard of care to compare to. Some new mechanisms are being tried such as ‘risk sharing agreements’ and ‘coverage with evidence’ agreements. These mechanisms can include provisional approval for a test with continued study and ongoing evidence generation.

Even with more evidence, it is likely that new models of pricing and reimbursement are also needed for genomic testing. As examples, changes to pricing frameworks to incorporate value-based pricing rather than cost-based pricing, and consideration of budget impacts on a broader basis such as by clinical pathways or pathologies rather than considering individual technologies or tests. Activities in a number of countries in the catalogue are considering how genomic tests should be offered and reimbursed with options including specialised centrally-funded services or as part of existing care pathways.

Resources on Reimbursement:

Di Gioacchino V, Langlois S, Elliott AM. Canadian genetic healthcare professionals' attitudes towards discussing private pay options with patients. Mol Genet Genomic Med. e572 (2019)

J. D. Chambers et al., Examining Evidence in U.S. Payer Coverage Policies for Multi-Gene Panels and Sequencing Tests. Int J Technol Assess Health Care, 1-7 (2017).

J. R. Trosman, C. B. Weldon, R. Kate Kelley, K. A. Phillips, Challenges of Coverage Policy Development for Next-Generation Tumor Sequencing Panels: Experts and Payers Weigh In. Journal of the National Comprehensive Cancer Network 13, 311-318 (2015).

I. Degtiar, A review of international coverage and pricing strategies for personalized medicine and orphan drugs. Health Policy 121, 1240-1248 (2017).

K. A. Phillips, P. A. Deverka, G. W. Hooker, M. P. Douglas, Genetic Test Availability And Spending: Where Are We Now? Where Are We Going? Health Aff (Millwood) 37, 710-716 (2018).

W. L. Lori Knowles, Tania Bubela, Paving the road to personalized medicine: recommendations on regulatory, intellectual property and reimbursement challenges. Journal of Law and the Biosciences, 1-54 (2017).

A. Vozikis et al., Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. Public Health Genomics 19, 352-363 (2016).

F. R. Goncalves, S. Santos, C. Silva, G. Sousa, Risk-sharing agreements, present and future. eCancerMedicalScience 12, 823 (2018).

References from TRANSPERS Payer Coverage Registry©:

Clain E, Trosman JR, Douglas MP, Weldon CB, Phillips KA. Availability and payer coverage of BRCA1/2 tests and gene panels. Nat Biotechnol, 33(9):900-2 (2015).

Trosman J, Weldon C, Douglas M, Kurian A, Kelley R, Deverka P, et al. Payer Coverage of Hereditary Cancer Panels: Barriers, Opportunities, and Implications for the Precision Medicine Initiative. Journal of the National Comprehensive Cancer Network, 15(2):219-228 (2017).

Dervan A, Deverka P, Trosman J, Weldon C, Douglas M, Phillips K. Payer Decision-Making for Next Generation Sequencing-Based Genetic Tests: Insights from Non-Invasive Prenatal Screening. Genet Med, 19(5):559-567 (2017)

Phillips K, Trosman J, Weldon C, Chambers J, Deverka P, Douglas M. Payer coverage policies for multigene tests. Nature Biotechnology, 35(7):614-617 (2017).

Chambers J, Saret C, Anderson J, Deverka P, Douglas M, Phillips K. Examining Evidence in U.S. Payer Coverage Policies for Multi-Gene Panels and Sequencing Tests. Int J Technol Assess Health Care, 33(4):534-540 (2017).

Douglas M, Parker S, Trosman J, Slavotinek A, Phillips K. Private Payer Coverage Policies for Whole Exome Sequencing (WES) in pediatric patients: trends over time and analysis of evidence cited. Genet Med, Jul 12. [Epub ahead of print] (2018).