Haim Neerman is the CEO of Variantyx.
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The great Roman historian Tacitus once said: "The desire for safety stands against every great and noble enterprise."
This has been the case with whole genome sequencing (WGS). It is an advanced form of genetic testing used to advance the early diagnosis of rare diseases in individuals and also to tailor personalized treatments based on what those genetics reveal. Sequencing allows the studying and comparison of healthy genes to specific changes (variants) in genes that lead to illness. WGS looks at and sequences the entire genome, and physicians can use the resulting data to solve current or even future medical puzzles related to genetics.
This reusability of WGS data goes a long way toward eliminating the worst part of the current approach to genetic testing — the "diagnostic odyssey." Under the traditional approach, if one genetic test doesn't produce a diagnosis, clinicians will go to the next one and then the next one. This requires patients to keep returning to deliver samples, and the continual back-and-forth is what can produce the recurring angst of patients and families.
However, the advancement of WGS as a first line of defense in the root determination of rare diseases has certainly been slowed for years by an "abundance of caution." You may recognize the phrase, which has been referenced regularly when dealing with event cancellations and other restrictions due to the Covid-19 pandemic. This is somewhat ironic since China used genomic sequencing to actually identify the novel coronavirus about two weeks after the unusual outbreak was discovered. Seventeen years previously, it took roughly five months to get the full sequence of the SARS virus.
This represents a rapid progression of the technology's efficacy. Many more "players" have entered the space, and the competition has resulted in a game-changing steep decrease in costs. The price of WGS no longer makes it impractical for clinicians to utilize or for it to be a deterrent for patients to seek its use. Cost reductions will continue to make WGS even more affordable as the development of sequencing and research of the genome continues.
However, while the technological and economic barriers to WGS have greatly decreased, there remains caution and confusion among clinicians, which limits the number of patients who have access to the technology. Some clinicians are still uncomfortable with the potential to identify "additional findings" beyond the initial reason for testing that results from sophisticated WGS. WGS practitioners can help alleviate those concerns by providing information about exactly what is being tested, including information about DNA changes that do not have a direct impact on the current reason for testing.
There are rules about educating patients about their "right to not know" and about patients' rights for opting in or out of receiving incidental findings, all of which helps facilitate an informed decision on whether or not to seek additional findings. This is reminiscent of similar concerns many decades ago about providing cancer results. The medical profession has risen above that, yet there is still hesitation about how much is too much information when it comes to reporting genetic variants.
As long as there is confusion or uncertainty, it makes it easier for insurance companies to not include WGS as a regularly covered medical benefit. The entire genetic testing industry should work with payers to help educate them about what specifically is being analyzed with individual tests. In the past, there has been some hesitancy from insurance companies willing to work with genetic testing companies. One of the hurdles to enabling widespread coverage is the need for uniformity in how insurers are evaluating the types of WGS technologies now available. The evidence exists supporting the use of WGS; however, some carriers will cover WGS and some will not — often citing the same studies in support of different decisions. An active dialogue will help, and the more open that insurance companies are to discussing issues with genetic testing companies, the more they will benefit.
Caution surrounding genetic testing is understandable because of what is still unknown and remains to be discovered about the complex and elaborate sphere known as genetics. However, many physicians are beginning to accept the benefits of WGS tests, and — slowly but surely — they have been adding it to their testing regimen. It is past time for coverage and reimbursement of WGS to become commonplace to support the future active diagnosis and treatment of existing conditions and rare diseases.
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