[메디컬리포트=Oliver Smith 기자] Sally Davies, the chief medical officer in the U.K., has made the declaration of her mission to “spread the genetics dream to as many people as possible,” and she has acted on this by calling on government, doctors and managers in her annual report to make broader use of revolutionary genetic techniques.Davies outlined a list of recommendations intended to “democratise” genomic medicine, which requires the genetic information from patients to be incorporated into their clinical care.
Sarah Neville, a global pharmaceuticals editor for Financial Times, explains that “These measures include centralising laboratory provision in fewer places, so that greater numbers of patients could be treated for the same level of resources, but with regional hubs to ensure equal provision across the country.”
Davies, meanwhile, described genomic medicine as having “huge implications for the understanding and treatment of rare diseases, cancer and infections.” As of right now, those afflicted with rare diseases, which accounts for some 3 million Britons, commonly required a “diagnostic odyssey,” as Davies describes it, that involved an average of five doctors consulting, and on average, this would yield about three misdiagnoses while waiting for their condition to only be identified some four years later.
Davies alluded to just how much potential benefit there may be when she added that the latest scan of cancer data shows over 60 percent of patients having “actionable genes,” which suggests that two thirds of afflicted patients might benefit from the advantages of personalized treatment.She used tuberculosis as another example, a disease that can go undiagnosed for a series of “many weeks” in some cases.She explained that it could be identified as well as treated with much greater efficiency and cost effectiveness if genomic insights were being taken into consideration.
She explained that Britain was one of the global pioneers in genomics, “and we are ahead of the game in […] integrating genomics into the health service in a way other countries dream of.” Even so, some health professionals have found themselves up against “a perpetual battle to make this happen.” Neville reports that it wasn’t “easy for patients to access and understand the services available.In future, all should be able to access genome testing, and patients should come to expect it, just as they would an MRI scan, if they needed one today.”
CMO Davies is not a public officer and, thus, operates independent of government, so she called for a national genomics board to be established, which is chaired by a public minister.She also called for all clinicians to receive or, at the very least, be offered genomics training.She said that genetic testing was something she wanted to become part of “health professionals’ normal care,” and as such, she advocated bringing the science to patients as opposed to bringing them to the science.
Photo by: B Reinius & C Shi via Wikimedia Commons
Dame Sally says that, as of yet, genomics merely amounts to a sort of “cottage industry” comprised of its 25 individual laboratories scattered about the country with varying levels of available service from one part of the country to another.Lessening the number of labs and focusing more on centralized organization would, according to Davies, make it feasible to run fewer sequencing machines at full capacity. “There will be more money to spend across more patients,” Davies explained.As a result, it would be easier to recognize disease patterns due to the increased concentration of data.
With the kind of expertise that the NHS actually needs always changing, the labs would end up being a lot different from what they once were, according to Davies.Interpretation of genomic data, as well as analysis thereof, “now involves high-powered computing not banks of test tubes,” added Davies.
“Clinicians would in future have to work with different kinds of staff, such as computer scientists and statisticians,” writes Neville.Davies also proposed a new perspective on the patient data debate, which is a back-and-forth that forms the basis of genomics research.Though patient data should, at all times, be stored “appropriately and securely,” she argues that it should not preclude the responsible use of data in situations where it could potentially yield significant advantages.
The CMO said that the decision to share data or not is not something that should be chalked up as “altruism” but, rather, should be correlated with the outcomes of the patient.In the event that patients do not allow their data to be centralized in the database, regardless of their reasons, Davies said that someone needs to explain to them “that your diagnosis will be based on published literature that is one to two years out of date.”
Critics pose the question as to whether or not the CMO is genuinely attempting to proliferate genetic medicine or to cut genetic medicine by reducing the locales providing it and then spin it as a step toward improved accessibility.As is often the case when anything is centralized, citizens wary of what those in power can do via centralization fear that less local provision will also disadvantage people.
The counterargument that Davies presents, however, is that resources are economized to stretch much further when centralized, which is different from actually cutting genomics.Personalized medicine, as proposed in Dame Sally Davies’s report, would mean that genome sequencing became as commonplace as biopsies and blood tests.