The future of health and wellness in the world is increasingly about checking for mutations rather than specific conditions. “This approach is far superior to screening for evidence that they have a particular condition, which is seldom made to individuals by large epidemiological studies,” says Dr. Jennifer L. Amster, a radiologist and president-elect of the American College of Radiology.
The way we test now – for the most part – focuses on activity in genes rather than mutations. Mutations can turn off certain genes that were previously working properly – for example, either gene A or gene B were previously working, but now neither gene is active. Mutations do this by either swapping DNA with DNA from another gene, or swap DNA with other DNA, or “hit and run” genetic modifications that cause a change in activity of the other gene.
But by getting rid of the frequency of these mutations in gene expression, individual controls can be added or removed. People with certain conditions such as diabetes, inflammation, cancer or an enlarged prostate can be able to control their symptoms more effectively, therefore optimizing their health. And they may even be able to live longer, providing they have a form of gene therapy that helps avoid the mutations that cause the disease.
Rather than specializing gene amplification, the approach recommended by the American College of Radiology would focus on adding certain levels of control over any one gene, with the goal of finding the one – or several – genes that are contributing most to the disease. For instance, doctors might be able to pinpoint levels of over-expression in the T-high gene, which may mean the patient has higher levels of inflammation and may need more control on the protein level.
Even if a patient doesn’t have a specific condition, having a level of control over individual genes can reduce the chances of the disease progressing, Amster says. Studies that found several rare but ultimately lethal gene mutations for severe inherited immune deficiencies found the patients tended to have an higher level of the enzyme that was taken from one part of the gene – but in other parts of the gene only the next part. The researchers concluded that adding activity control would result in the most potential benefits for the patient, due to the importance of the enzyme and the limitations of the other genetic variants.
Multiple mutations in genes can affect the development of certain cancers, and an example of this is patients who inherit a mutated form of the skin cancer gene BRCA1 and have increased risk of developing the disease. For such patients, an amplified level of expression of a gene might be beneficial, Amster says.
But as current tests for levels of activity in DNA, proteins and other parts of genes are not being adapted to this change, people with a certain genetic variant will be left out. It will be easier for a person with a certain mutation that is expressed above the expected levels of the disease in the test than someone with a genetic variant that isn’t.
“To have high levels of activity, you do need gene amplification, so all we would have is the mutation(s),” says Dr. Difrasco. “Nowadays, the work on levels of activity in an enhanced sample is in its infancy. The changes they have made are long-standing, incremental changes. But it is not a silver bullet. The question of how to define levels of activity should be taken up as science advances.”