Patient Education
Why experts matter
Molecular tests assays, especially Next-Generation Sequencing (NGS), are extremely complicated and difficult to interpret, requiring expertise in genetics and genomics.
Oncologists, particularly those in the community setting, generally do not have the tools and experience in this field and thus do not sufficiently understand these test results to make full use of them.
Medical mistakes can happen when these tests are interpreted by those without sufficient understanding in the molecular diagnostic space. Additionally, many laboratories do not interpret the case in the context of the patient, but instead utilize automated processes to identify possible significance to any detected mutations. Many of these interpretations are not medically sound or written by physicians.
On the dangers of misinterpretation, from the Washington Post (link):
When such complicated genetic tests are left to the interpretation of novices in the field, mistakes can happen. See below for a recent example from The Washington Post about a woman who had her breasts and ovaries removed because her physicians did not understand the findings of the genetic tests, that actually conveyed a negative test.
What is unique about precision Medicine?
Cancer is generally considered a GENETIC disease. This does not imply heredity in most cases, but that genetically and tightly-controlled cellular processes are altered, leading to uncontrolled cell growth (i.e., cancer).
Next-Generation Sequencing (NGS) allows us, for the first time, to see the genetic make-up of the tumor. This allows us to see “under the hood”, and identify what cellular processes have gone awry and to assess their impact on the patient. Knowing these processes is beneficial, because targeting these altered processes gives us the best opportunity to stop the mechanisms that are driving the tumor.
