When Can Genetic Counseling Be Used?
More Programs and Publications Featuring Dr. Brandy Gunsolus
In this program:
Genetic counseling can be extremely helpful for both patients and providers. Medical laboratory scientists Dr. Brandy Gunsolus and Dr. Kyle Riding explain the different ways that genetic counselors help in the genetic testing process – and the sequence that genetic tests should be carried out.
Transcript
Interviewer:
Dr. Gunsolus, I'd like to ask you about genetic counseling now. Where does this specifically come into play, and is there something that I should be opting in for prior to getting genetic testing?
Dr. Brandy Gunsolus:
So genetic counselors are amazing resources to have, they really are...most people don't really realize exactly what they do, and that piece that I was speaking about where, what do I do? What does my family do? If we have a negative result or we have a positive result, genetic counselors are imperative to helping individuals and families to work through that when they're doing their testing and also work through those positive results with congenital, those newborn babies that are born with abnormal...those newborn babies that are born with abnormal genetics tests and those conditions. The genetic counselor is also becoming more and more required to be seen by insurance companies where insurance helps have to have that sign off by the genetic counselor before a test is even done. And so that's another layer and another step in there. The genetic counselor, the reason insurances are requiring the genetic counselors to do that is the genetic counselors are great at ensuring that the correct test and the correct markers are being ordered by the physician, not saying that the physicians are making mistakes. But it's very easy to make a mistake when it comes to ordering genetic testing, because a lot of times, these are just what appear to be random letters, numbers, and dots. And if you have a letter or a number or a dot in the wrong place on the order, you're testing for a completely different gene than what was intended.
And so with that, there’s more of that safety catch to make sure that we are definitely testing for the correct condition for that patient, they are a wonderful asset to have on the team. We have one here, and I work with her every single day.
Interviewer:
That's really good to know. Thank you for that. We have a question from the audience, and I believe we have touched on this earlier. Maybe you can take this one, Dr. Gunsolus, “Does sequence of genetic testing matter for my health?”
Dr. Brandy Gunsolus:
Yes, it absolutely does. So with all laboratory testing, we have screening, and we have confirmatory, we have the same thing when it comes to genetic testing. You have your newborn screens and that if something's abnormal, then you get more in-depth genetic testing. We have our chromosome microarray, which is the initial screen. And if testing is an issue, then we may go on to full genome sequencing if we need more information. So there is an order of ordering those genetic tests. You order what we call a qualitative test, so that’s a yes or no before ordering a quantitative test, which gives you the actual number as Dr. Riding was mentioning earlier with PCR and qPCR. So you screen for the condition first. And then once you know that that mutation is there, then you quantify the amount of mutation. That's commonly done, when you're looking at oncology and cancer monitoring, they look to see if the mutation’s there, and then they look at the quantifying how much mutation and how that changes over time as you're taking the medication to treat the cancer. And so that sequence of things does come into play with genetics.
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