A recent Reuters article highlights the difficulty of obtaining insurance coverage for genomic tests based on next-generation sequencing. These tests have already proven valuable in diagnosis and treatment in some cases, and promise to do even more in the future as our understanding of genomic science improves.
According to the article, insurers have been hesitant to reimburse the cost of sequencing-based tests
… demanding proof that the results will lead to meaningful treatments among the estimated 2 million Americans with a serious, undiagnosed disease, still an unlikely prospect in the majority of cases.
Proponents of genomic testing must demonstrate that it is more cost effective to perform a single, relatively expensive sequencing test followed by multiple bioinformatic analyses than it is to pay for multiple disease- or gene-specific assays. In other words, to demonstrate that it is cheaper to go back to the well than to drill a new one.
As sequencing becomes less expensive, it seems clear that this will be the case. Indeed, the exome sequencing program at the Baylor Whole Genome Sequencing laboratory has been able to identify a disease-causing gene in more than a quarter of its 3500 sequenced patients. However, there are other factors that bear on sustainable economic models for sequencing-based testing:
- Re-evaluation — One of the unique benefits of sequencing is the ability to perform many bioinformatic tests on a sequence at very little marginal cost. These tests may happen long after the original sequencing was performed, even many years later. As our understanding of the genomic mechanisms of diseases improve, it will become important to continually revisit undiagnosed cases to incorporate the latest science. Diagnosis will be an ongoing process, not a single result delivered at one point in time.
- Consent, Privacy, and Security — to ensure the ability to apply new diagnoses to existing sequences, this highly confidential information must be stored securely, protected from unauthorized access, and used with the informed consent of the patient. Maintaining these properties over the long term is precisely the mission of Genecloud.
- Regulation The legal environment around sequence-based testing is far from clear; in the United States, different states have very different approaches. The State of New York, for example, requires disease-specific tests (see this list). These regulations, created to protect the interests of patients, may have the unintended consequence of denying patients access to the latest advances.
- Reimbursement — Finally, testing companies and insurers must converge on a set of workable reimbursement strategies. Testing companies must demonstrate the benefit of the “sequence once, read often” approach and design business models that allow them to amortize the cost of testing across multiple analyses.
Genomic testing has produced some truly amazing outcomes in a some cases. By building sustainable technologies and business models that account for the needs of patients, practitioners, and patients, we will start to bring more and more people back to well.