Karina Brierley, MS, LCGC.

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Karina Brierley, MS, LCGC. is a Genetic Counselor at Yale University’s Smilow Cancer Center.

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Karina Brierley, MS, LCGC, Genetic Counselor at Yale University’s Smilow Cancer Center, introduces genetic testing.

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University’s Smilow Cancer Center, introduces genetic testing.

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When we talk about genetic testing, obviously that is pretty broad and there’s lots of different areas of genetic testing, even if we’re only talking about cancer genetic testing. So, one of the things that comes up now as different testing technologies both are becoming more common is this somatic versus germ line.
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Germ line refers to the fact that there are certain genetic changes or mutations that are present from birth and present in almost every cell of our bodies including the sperm and the egg cells which is what we call germ line. So, these are genetic mutations or changes that can be passed from parent to child. And what we’re looking for in this case is to look at genes that we all have that normally provide our bodies with some protection against the development of certain cancers-- tell our bodies how you know our cells should grow and divide in a normal controlled way over time. And what we’re looking for is to see did someone inherit a change or misspelling mutation that’s harmful in one of these genes that prevents it from providing that protection, and so that person would be at an increased risk for developing certain cancers over their lifetime. And so, this testing is often done with the blood or saliva sample. It can be done on people that have had cancer and people that have not had cancer. And so that is the majority of what we work with, and majority of what’s talked about in these videos.
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Tumor testing now has become more common to look at what is all of those genetic changes that have gone into the tumor. And what kind of unique pattern or distinct pattern of the genetic changes in that tumor that may then make it more responsive to certain treatments, so, we’re mostly looking at those changes that went into the cancer developing that then may be targetable in terms of certain treatments or may tell us more about prognosis. At the same time, because those inherited, or germ line changes are present in virtually every cell of our body, we often times also detect those in the tumor, and sometimes when they do this testing it’s always on the sample of tumor but sometimes they also have blood or saliva sample so that they can compare the two to what’s inherited and what just happened in the tumor.

 

 

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University, talks about the Genetic Information Nondiscrimination Act.

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University, talks about the Genetic Information Nondiscrimination Act.

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In terms of privacy, there is a broad law that was passed in 2008 called the Genetic Information Non-Discrimination act, or GENA for short. And, so that was really passed not as much that we had a lot of evidence of concerns, but just to give people that extra layer of reassurance that it provides protections in terms of health insurance and employment that, you know, for genetic discrimination. So, from insurers or employers using genetic information to make decisions and to discriminate against people. In terms of health insurance, it provides protections that say health insurers can’t use or ask that information to determine coverage, to determine cost. Those kinds of things. In terms of employment, again, it’s that employers can’t ask for user require that information to make hiring and firing decisions, payment, promotions, things like that. There are certainly some gaps in that coverage. So, the important ones being that for health insurance it doesn’t necessarily cover [patients that are involved in certain federal health systems like the military or veterans. There are other policies and things in place that provide similar protections, but it’s not covered under GENA. For other insurers, life insurance, disability, long-term care, those are not covered by GENA. For employment-- small employers less than 15 people aren’t covered by GENA. So, there are certainly some gaps but it does provide some good protection as well.

 

 

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University’s Smilow Cancer Center, describes how genetic counselors can support family conversations.

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University’s Smilow Cancer Center, describes how genetic counselors can support family conversations.

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The information that comes from genetic counselling regardless of the test results can be very important for family members and can be literally life-saving in some cases. At the same time that isn’t to say that it’s always easy or straightforward and that everyone is going to have an easy time with it or the same reaction. So, as people will see in the videos that each family’s different, each person’s different, they’re going to have different challenges, different approaches, different reaction to the information. It can be difficult and it can be scary to have to be the giver or receiver, and people can have a really wide range of emotions. So, I think it’s using the tools that are available that often times as genetic professionals we’re here and happy to be kind of the source of information and support to help people strategize; to help people ask questions. So, you know, sit down and often talk to people on the phone or in person about “how do I tell, who do I have to tell and how do I tell them what?”, you know, how do we give them that information. So, I think, you know, our job in seeing a lot of patients is also kind of know what strategies might help and help people kind of talk through that in their family. Maybe there are certain people that they will have an easier time telling and they can utilize those people to then help disseminate the information through their family that, you know, they tell key people and have those people tell other key people that they kind of find strategies that work, if they’re closer to certain people and not others, that we have tools like family letters, information sheets oftentimes it can help in those situations.