We know more about how the human body works — how we live and die — than we ever have before.
We’ve mapped the human genome, the blueprint that’s largely responsible for who we are, and scientists are now able to sequence a person’s individual genome for less than $US1,000. In theory, this could provide doctors with an unprecedented amount of medical information about a patient.
As the price of genetic testing continues to fall and the value of the information we’re getting from those tests continues to rise, there’s one fundamental question: When are we going to start regularly using genomic testing in medicine?
When will surgeons test every tumour to see if it shows genetic markers that indicate that a patient’s siblings should be tested for the same cancer? When will doctors routinely prescribe specific drugs because a patient’s genes indicate that they will work?
In an article published May 13 in the journal Science Translational Medicine, the authors argue that while doctors are already incorporating these kinds of genetic testing tools sporadically, they’re actually far more ready to start using them routinely than many think.
‘The future is here’
In 2013, the Nature journal Genetics in Medicine published an article titled “Implementing genomic medicine in the clinic: the future is here,” where the authors wrote that the early adopters using this technology are far enough along that if they were to collaborate more, it could be a massive benefit to patients. We’re ready, the authors said then, to start implementing this technology on a larger scale.
Yet there’s still the idea that genetic testing is somehow different from other new medical tests and that we should be cautious before using it.
Dr. Jason Vassy, the lead author of the new article and an instructor at Harvard Medical School, explained to Business Insider that there are concerns among geneticists that doctors who haven’t been trained in genomics aren’t ready to use this new technology. There’s a shortage of medical geneticists and when asked in surveys, many doctors still respond that they don’t have the training or knowledge to use these new tools.
But Vassy and his coauthors explain that doctors are as ready to start adopting genomic testing as they have been for any new medical technology in the past.
“Time after time, a new innovation has come along in clinical care and when it actually reaches the point where [that innovation] is important in clinical care, [doctors] have the wherewithal to rise to the occasion,” Vassy said.
Every time a new medical technology is developed, physicians who have been practicing for years are of course not already trained to use it, yet — with the help of experts in the new field — they are able and will most definitely learn what’s necessary. They start using the new technology as soon as they know that doing so will be good for their patients.
What we are now able to do with genomics is new, but the question of whether or not doctors are ready for a new technology is an old one.
Vassy says it’s true that there’s a shortage of medical professionals with specialised genetic training — a job that will almost surely see significant growth — but that with some education about how genomic tools could help them in their specialty, doctors should be able to decide when it’s appropriate to send a patient to a medical geneticist. Doctors already make plenty of similar calculations on a regular basis — when they decide to send a patient to a radiologist for a CT scan, for example.
What will happen next
For every doctor, the way that this technology gets incorporated will be different. Primary care physicians might use genomic data to better understand family history of disease while ophthalmologists might look for signs of hereditary eye conditions.
Some people think that genomic testing could totally transform medicine, that we could sequence the genome of every person and then figure out what kind of medical care will give them the best life. Vassy doesn’t think that’s practical, at least for now — he wants to see the studies that show a particular genetic test will cause better outcomes for a patient before ordering it.
But this is one of the fastest-transforming areas of medicine and he says “the number of situations where there will be a genomic solution will just continue to increase and increase and increase.”
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