Technical and legal barriers are hurdles for genome sequencing

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A new report prepared by Rare Cancers Australia under the auspices of the National Oncology Alliance has presented the current and potential future landscape for the use of genomic testing in the diagnosis and treatment of cancer.

The National Oncology Alliance (NOA) was formed by Rare Cancers Australia as a broad stakeholder alliance to promote timely, affordable and equitable access to cancer treatments.

"Tests that identify molecular alterations of interest in cancer are often funded through the Medicare Benefits Schedule (MBS) as a way of identifying eligible patients for the Pharmaceutical Benefits Schedule (PBS)-funded targeted treatments, such as small molecule inhibitors or monoclonal antibodies," says the report.

However, it says current diagnostics are limited to conventional pathology that test for one-to-five molecular alterations. This "narrow scope" can lead patients down 'testing odysseys' to identify a useful variant or biomarker.

The report says the opportunity is for 'next-generation sequencing' (NGS) to replace these conventional pathology tests by simultaneously searching for many variants.

"Broad NGS tests (such as whole exome or whole genome sequencing) can also uncover variants of unknown significance," it says, adding its use would more likely have "immediate clinical utility" for patients with cancers that are "less well-understood".

Yet is also says this would likely focus attention on the funding or lack thereof for potentially matched treatments.

"While funding for NGS testing would increase equity of access, the allocation of public funds must also be considered carefully given the currently limited options for funded treatment," says the report.

It says, "Between 2020 and 2030, funding for NGS testing is likely to come increasingly from Medicare reimbursement, particularly as the cost of NGS decreases and the technology can be harnessed by laboratories in a cost-effective manner using existing MBS items."

A significant challenge is the current legal prohibition on Medicare funding for services provided outside Australia.

The current commercially available NGS diagnostics, such as the whole genome sequencing provided by Roche's Foundation Medicine and the OncotypeDX breast cancer diagnostic, are conducted overseas.

In effect, the current prohibition on Medicare reimbursement of services provided outside Australia means a commercially available NGS would need to be funded through an alternative mechanism.

Over the medium to longer-term, an overseas provider could move to conduct their testing in Australia or a locally developed NGS technology could be commercialised.

In the short-term, the federal government could move to lift the legal prohibition, but it would still require the Medical Services Advisory Committee to approve funding for any NGS diagnostic.

The committee has rejected OncotypeDX six times.

The local sponsor of OncotypeDX, Specialised Therapeutics Australia, used its submission to the current parliamentary inquiry into approval processes for new medical technologies to question MSAC's approach to the evaluation of NGS diagnostics and the risk of inequity.

It said, "Ultimately, MSAC’s decision to reject OncotypeDX for reimbursement means Australia remains an outlier when it comes to the provision of cutting-edge genomic tests. Australian women are missing out on a technology their peers internationally are provided as a standard of care.

"The great pity in Australia now, is that only those women who can afford to access this personalised genomic technology have the opportunity to benefit. This is not a level playing field and has led to a situation where a cutting-edge technology is only available to those with the financial resources to pay."

“There has been much discussion and confusion about what should be Australia’s next steps in genomic testing for cancer patients," said Richard Vines of Rare Cancers Australia and the National Oncology Alliance.

"Given the rapidly evolving science around cancer and genomics it is likely that a blended approach of increased research leading to MSAC reimbursement will be the best way forward in the short term. Similarly, the question of whether we persist with all testing being required to be carried out on shore or whether the benefits of being part of international initiatives will require change will require careful consideration.

"NOA believes that getting this right is critical to the future care of Australians living with cancer and preparing a comprehensive roll out plan should be a priority of government in the coming months."

While Medicare does not currently fund a single NGS diagnostic the federal government's Medicare Research Future Fund (MRFF) is part of a project involving the use of Foundation Medicine.

In January this year, health minister Greg Hunt announced $5 million from the MRFF for a project involving the genomic profiling of 1,000 Australians with newly diagnosed metastatic, non-squamous, non-small cell lung cancer. The project is jointly funded by Roche through the use of Foundation Medicine's whole genomic sequencing.

The report from Rare Cancers Australia and the National Oncology Alliance concludes, "In the next decade, cancer care will be transformed as genomics enables increasingly personalised medicine. Health systems are beginning to adapt to the unique nature of NGS technology and precision medicine."