Dr. Kala Visvanathan

Background: Dr. Kala Visvanathan works at Johns Hopkins University.

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Dr. Kala Visvanathan of Johns Hopkins University describes Direct to Consumer testing.

Dr. Kala Visvanathan of Johns Hopkins University describes Direct to Consumer testing.

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Sometimes when you go onto a website and you take a test, although you read the test you might not understand what is the implications of the test and then you send of the sample which sometimes can be a swab or a blood sample. And you get the results back and then you don’t totally understand the interpretation of those results. When we see people for genetic testing and this is particularly for cancer, we really spend a lot of time looking at their history. We look at both their family history, their personal history and other risk factors. And then we meet with the patients and we talk to them about the implications. So we have more time to think about it and we are focused specifically for example on their cancer risk. At the same time after testing when we have the results, we also have the time to interpret the result and provide what is the necessary information. This level of information is not provided when you do this direct to consumer testing. I think it is not so much that people should not test or test. It is more that the need to understand the limitations of this testing. And be aware that it can’t be used to replace testing through a health provider.

 

 

Dr. Kala Visvanathan, of Johns Hopkins University, explains inherited breast cancer.

Dr. Kala Visvanathan, of Johns Hopkins University, explains inherited breast cancer.

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So, when we think about Breast Cancer one of the ways that we separate different types of Breast Cancer are those that are sporadic and those that are familial.
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By familial what we mean is that they are inherited.
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The first thing to say is that most cancers are not inherited and what that means is they are not due to a mutation in a gene that is associated with increased cancer risk. Right, so, most cancers are thought to be due to a combination of genetic and environmental factors. Okay. About 20% of Breast Cancers, they are probably due to an inherited alteration in DNA. And a good example which lot of people know about is BRCA1 and 2. Right. And so, there is a distinct difference. What you see often in a family where there is an inherited alteration of DNA, you might see multiple generations of individuals who have had cancer so Breast Cancer you might see more family members with only onset Breast Cancers sometimes or other cancers associated with this alteration. Whereas in a family where sporadic you would see maybe they have no family history of Breast Cancer.
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So when we think about genetic testing and we think about the treatment of Breast Cancer or even identifying individuals with a higher risk for Breast Cancer. All of these areas are still evolving. We don’t have all the answers and there is a lot of change happening. So what we are telling you today is what we know today. But I often tell people as they need to check in with their providers or check in with specialty clinics every few years to understand the updates. It is totally an emerging field and a good example of that is probably five years ago we might just do testing for BRCA1 and 2. So two genes we look for alterations in. And now we are looking at 30 genes. Five years ago we just focused on Breast and Ovarian Cancer in an individual who had a family history of that. Now we think we should test for all common cancers. Right. Some people do 90 genes, so all of this is evolving. Another area that there is a lot of effort is all of these new treatments for Breast Cancer and the third area is how do we better define individuals who are at higher risk or lower risk. That again is an area where we try to combine more risk factors and novel markers.
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So, again nothing is standing still so you need to again check in with your provider, check in with experts about this every few years to understand what the state-of-the-art is at that time.