Genetics and genomics testing falls in two broad categories, 1) predictive medicine to determine the risk of disease and 2) precision medicine to determine the best treatment option.
Within the field of predictive medicine, there are three major situations in health care when genetic testing can be valuable.
- Prenatal testing: there are standard tests for certain genetic syndromes that are done during pregnancy to determine the health of the baby.
- Testing to determine the reason for a particular condition: certain types of problems are known to be related to genetic syndromes and may lead to getting genetic testing to determine if that is the cause.
- Tests to determine risk of getting a disease (family history): there are specific diseases such as certain types of breast cancer or colon cancer that have a genetic basis.
As for precision medicine, there have been a number of research studies that have identified the specific genetics of tumor cells. In some cases this can be very helpful in determining the best treatment, including chemotherapy for a specific tumor with early evidence that treatment will lead to a quicker remission and people will not go through difficult treatment with the less effective medication.
Understandably, there’s a lot of excitement about genetics and genomics testing. But while the field is progressing rapidly, refinement is still needed in the science and its predictive power. People may think that if they get certain types of genetic testing that they will learn very clearly whether or not they have a risk -- but more often, the result of the test is to be given a probability of risk. That’s much harder for a person to take and make a decision on, and can cause unnecessary worry, testing and even treatment.
And precision medicine -- being able to tell a person what the best medication is for them -- is still in the very early stages, although it might not sound that way based on the claims of some vendors in the space. The exception is that there is clear evidence for certain cancers that cancer genomics will get the patient on the right drug from the beginning.
It’s important for employers to keep up to date on this evolving and promising area. Most plans are reviewing coverage policies every six months. You need to stay on top of their clinical policy positions to ensure they are aligned with your organization’s benefit philosophy.