DNA testing kits are appealing because of the insight they may provide to one's present and future health. Renee Pelletier discusses at-home genetic testing.
Transcription:
Bill Klaproth (Host): So, we’ve all seen the ads for DNA testing kits that you do at home and send in. But what do you need to know before using a service like this, like what are the pros and cons, how to interpret the results and what impact may the results have on your health and more. Hmm, a lot of questions to answer. So, let’s bring in Renee Pelletier, a genetic counselor at Massachusetts General Hospital. Renee, thank you for your time. So, first off, what is direct to consumer or at-home genetic testing and how is it done?
Renee Pelletier (Guest): Yeah. The direct to consumer sometimes is called at-home genetic testing, they are tests that you can typically order online or by phone. So, in most cases, you’ll either swab your cheek or spit into a test tube and then send that off by mail. In return, the company will analyze your genetic information and then report back various types of information. So, this could be things like ancestry, health risk factors, and even fun traits like having dimples.
Host: Wow, that’s really interesting. So, what kinds of at-home genetic tests are there?
Renee: Yeah so, there’s a lot of different genetic tests in general and at-home tests are kind of just a small little subgroup. But for a lot of these tests like 23 and Me or Ancestry DNA, they can be ordered directly online where a lot of the other genetic tests that we think about are ordered through a clinic. Some of these tests even though they are ordered directly online still do need physician’s approval so this could be your own physician or in some cases a testing company actually employs physicians that can order the tests. But for things like 23 and Me and Ancestry DNA; you can just kind of order it directly and get those results directly through you, kind of removing that physician piece of it.
Host: Right. So, how is this different than from clinical genetic testing?
Renee: You know there are a few ways in which the at-home genetic testing can be different from the types of genetic tests that we order in a clinic. One of the first ways that we think about it is simply the information that you can get back. So, most of the time in a clinic, we are not going to be talking about things – or testing for things like ancestry or kind of those fun traits like dimples and how you taste cilantro, stuff like that.
But for clinical testing, typically a doctor or genetic counselor before the testing is ordered will have spoken to you a little bit about the tests, the risks and benefits and answer any questions you might have about the test sample. Some at-home genetic testing companies might provide this support, but others might not. So, that’s kind of a big piece that is quite different from the clinical model. But another way in which a lot of these tests differ from clinical testing is really the technology that’s used for reporting back results.
So, while a lot of the companies might say we can report a lot of information back regarding health, ancestry, etc. a lot of these they don’t really read through your entire genetic code so they might not give you the full picture of your health risk or any other types of information.
Host: Right, that’s really good to know. So, what are the risks and benefits then of this type of testing?
Renee: Yes, I think that’s a really important question for anyone who is considering this testing to kind of ponder. So, when we think about the benefits, it certainly can be super interesting to have this type of testing or go through with it. You can learn interesting things about your genetic makeup like your ancestry and again, going back to those fun traits. So, if you aren’t making any health decisions based on those results or any lifestyle decisions, it can be kind of a fun activity to do. But it’s important to know that there are risks. So, like I said before, sometimes the results aren’t so reliable. There might be false negatives, or you might have a false reassurance or a false or inaccurate picture of your risk to develop certain diseases. And even for things like ancestry; some of the science isn’t perfect for identifying that ancestry. So, you might get those results back, but they might not be quite accurate. And this is especially relevant for non-European populations.
Other things to think about are there is some limited oversight and regulation of these laboratories that are providing that testing so it’s important to look into that and then of course, you might reveal, or the testing might reveal information that you aren’t necessarily expecting and that can be related to health risks but some of these companies actually have the option to identify and connect with relatives. So, this in some ways can reveal unexpected familial relationships and that can cause a whole other host of reactions and emotions that I think a lot of people don’t particularly think about when they go forward with this type of testing.
Host: Right. So, when someone is considering a home genetic testing kit; what are some of the things to consider?
Renee: Yeah, so I think it’s really important to really go into this thinking what types of information are you looking for. What are you looking to learn? And can this company answer those questions? So, it’s really the first great step is just look at their website and see what types of information they are able to report back and what they aren’t able to report back. It’s also important to kind of look into the company and see what resources they have if you end up with questions about your results. Some of these companies do offer genetic counseling, others don’t provide that support. And that’s an important piece to look into before moving forward.
Some other considerations would be who has access to your data once you send that in and what are their privacy protections. So, there’s a lot of kind of information floating around the internet about how these companies are sharing genetic information with other companies or pharmaceutical companies. So, is that something that you are not comfortable with, it’s important to look into that first.
And then just kind of doing a general scan of what’s the scientific evidence that they provide out their website and do they really state the limitations of their tests and are those limitations that you are comfortable with.
Host: So, when you talk about limitations, I’m thinking okay you spit in the tube, you send it in; how do I know they didn’t mix it up or drop it on the floor and something gets contaminated. So, are these results reliable?
Renee: Yes. So, I think in those senses one of the ways to ensure that those simple mistakes aren’t being made is just to look at the certification of the laboratory. So, there are kind of oversight regulations and kind of use that to regulate laboratories to make sure that there aren’t sample mix ups all the time and things like that. So, first make sure that they are kind of a certified lab and reliable in that sense.
But when I talk about like reliability of the genetic testing results, it really goes back to the technology that they are using. And if they are using that technology called genotyping that I mentioned before; and you are looking to find out your risk for cancer; they might be missing genetic factors in there that might be important for informing that risk. Where a clinical test might be more appropriate because it might read through more genetic information and give you a clearer picture.
Host: So, can a genetic test ever affect someone’s ability to get insurance?
Renee: Yes, so it is certainly an important question to kind of think about. So, for any type of genetic testing; there is some protection by a federal law that was passed in 2008 called the Genetic Information Nondiscrimination Act. So, this one actually makes it illegal for most health insurance providers and employers to make any decisions based on genetic testing information. So, this could be like healthcare coverage, things like hiring, health plan eligibility and benefits. So, that’s a great law that’s in place to protect individuals. There are places where this law doesn’t apply for things like disability insurance, long-term care and life insurance are places where this law doesn’t protect individuals so if those are pieces where people want to go out and get life insurance; it might be something to think about before sending in a sample where this information could potentially impact your ability to obtain that down the line.
Host: And if you get a test back and it reveals something that worries you or scares you or something that you didn’t think about, is unexpected; who should you talk to?
Renee: Yeah, so whenever anyone gets information for genetic testing, I think a wonderful resource is a genetic counselor of course. I’m a little bit biased there, but genetic counselors are individuals who are specially trained in both the psychosocial reactions and just the technical questions that people might have about their genetic testing results. So, they are a great resource, but other healthcare providers certainly could help guide individuals if they have questions about this information. If someone is interested in looking to find a genetic counselor to answer these questions a great place to start would be www.nfgc.org and they have a find a genetic counselor tool where you can find a genetic counselor near you to help you answer those questions.
Host: Renee, really interesting and thanks for your time today. For more information, please visit www.snhhealth.org, that’s www.snhhealth.org. And if you found this podcast helpful, please share it on your social channels and be sure to check the entire podcast library for topics of interest to you. This is Simply Healthy, a podcast by Southern New Hampshire Health. I’m Bill Klaproth. Thanks for listening.
Bill Klaproth (Host): So, we’ve all seen the ads for DNA testing kits that you do at home and send in. But what do you need to know before using a service like this, like what are the pros and cons, how to interpret the results and what impact may the results have on your health and more. Hmm, a lot of questions to answer. So, let’s bring in Renee Pelletier, a genetic counselor at Massachusetts General Hospital. Renee, thank you for your time. So, first off, what is direct to consumer or at-home genetic testing and how is it done?
Renee Pelletier (Guest): Yeah. The direct to consumer sometimes is called at-home genetic testing, they are tests that you can typically order online or by phone. So, in most cases, you’ll either swab your cheek or spit into a test tube and then send that off by mail. In return, the company will analyze your genetic information and then report back various types of information. So, this could be things like ancestry, health risk factors, and even fun traits like having dimples.
Host: Wow, that’s really interesting. So, what kinds of at-home genetic tests are there?
Renee: Yeah so, there’s a lot of different genetic tests in general and at-home tests are kind of just a small little subgroup. But for a lot of these tests like 23 and Me or Ancestry DNA, they can be ordered directly online where a lot of the other genetic tests that we think about are ordered through a clinic. Some of these tests even though they are ordered directly online still do need physician’s approval so this could be your own physician or in some cases a testing company actually employs physicians that can order the tests. But for things like 23 and Me and Ancestry DNA; you can just kind of order it directly and get those results directly through you, kind of removing that physician piece of it.
Host: Right. So, how is this different than from clinical genetic testing?
Renee: You know there are a few ways in which the at-home genetic testing can be different from the types of genetic tests that we order in a clinic. One of the first ways that we think about it is simply the information that you can get back. So, most of the time in a clinic, we are not going to be talking about things – or testing for things like ancestry or kind of those fun traits like dimples and how you taste cilantro, stuff like that.
But for clinical testing, typically a doctor or genetic counselor before the testing is ordered will have spoken to you a little bit about the tests, the risks and benefits and answer any questions you might have about the test sample. Some at-home genetic testing companies might provide this support, but others might not. So, that’s kind of a big piece that is quite different from the clinical model. But another way in which a lot of these tests differ from clinical testing is really the technology that’s used for reporting back results.
So, while a lot of the companies might say we can report a lot of information back regarding health, ancestry, etc. a lot of these they don’t really read through your entire genetic code so they might not give you the full picture of your health risk or any other types of information.
Host: Right, that’s really good to know. So, what are the risks and benefits then of this type of testing?
Renee: Yes, I think that’s a really important question for anyone who is considering this testing to kind of ponder. So, when we think about the benefits, it certainly can be super interesting to have this type of testing or go through with it. You can learn interesting things about your genetic makeup like your ancestry and again, going back to those fun traits. So, if you aren’t making any health decisions based on those results or any lifestyle decisions, it can be kind of a fun activity to do. But it’s important to know that there are risks. So, like I said before, sometimes the results aren’t so reliable. There might be false negatives, or you might have a false reassurance or a false or inaccurate picture of your risk to develop certain diseases. And even for things like ancestry; some of the science isn’t perfect for identifying that ancestry. So, you might get those results back, but they might not be quite accurate. And this is especially relevant for non-European populations.
Other things to think about are there is some limited oversight and regulation of these laboratories that are providing that testing so it’s important to look into that and then of course, you might reveal, or the testing might reveal information that you aren’t necessarily expecting and that can be related to health risks but some of these companies actually have the option to identify and connect with relatives. So, this in some ways can reveal unexpected familial relationships and that can cause a whole other host of reactions and emotions that I think a lot of people don’t particularly think about when they go forward with this type of testing.
Host: Right. So, when someone is considering a home genetic testing kit; what are some of the things to consider?
Renee: Yeah, so I think it’s really important to really go into this thinking what types of information are you looking for. What are you looking to learn? And can this company answer those questions? So, it’s really the first great step is just look at their website and see what types of information they are able to report back and what they aren’t able to report back. It’s also important to kind of look into the company and see what resources they have if you end up with questions about your results. Some of these companies do offer genetic counseling, others don’t provide that support. And that’s an important piece to look into before moving forward.
Some other considerations would be who has access to your data once you send that in and what are their privacy protections. So, there’s a lot of kind of information floating around the internet about how these companies are sharing genetic information with other companies or pharmaceutical companies. So, is that something that you are not comfortable with, it’s important to look into that first.
And then just kind of doing a general scan of what’s the scientific evidence that they provide out their website and do they really state the limitations of their tests and are those limitations that you are comfortable with.
Host: So, when you talk about limitations, I’m thinking okay you spit in the tube, you send it in; how do I know they didn’t mix it up or drop it on the floor and something gets contaminated. So, are these results reliable?
Renee: Yes. So, I think in those senses one of the ways to ensure that those simple mistakes aren’t being made is just to look at the certification of the laboratory. So, there are kind of oversight regulations and kind of use that to regulate laboratories to make sure that there aren’t sample mix ups all the time and things like that. So, first make sure that they are kind of a certified lab and reliable in that sense.
But when I talk about like reliability of the genetic testing results, it really goes back to the technology that they are using. And if they are using that technology called genotyping that I mentioned before; and you are looking to find out your risk for cancer; they might be missing genetic factors in there that might be important for informing that risk. Where a clinical test might be more appropriate because it might read through more genetic information and give you a clearer picture.
Host: So, can a genetic test ever affect someone’s ability to get insurance?
Renee: Yes, so it is certainly an important question to kind of think about. So, for any type of genetic testing; there is some protection by a federal law that was passed in 2008 called the Genetic Information Nondiscrimination Act. So, this one actually makes it illegal for most health insurance providers and employers to make any decisions based on genetic testing information. So, this could be like healthcare coverage, things like hiring, health plan eligibility and benefits. So, that’s a great law that’s in place to protect individuals. There are places where this law doesn’t apply for things like disability insurance, long-term care and life insurance are places where this law doesn’t protect individuals so if those are pieces where people want to go out and get life insurance; it might be something to think about before sending in a sample where this information could potentially impact your ability to obtain that down the line.
Host: And if you get a test back and it reveals something that worries you or scares you or something that you didn’t think about, is unexpected; who should you talk to?
Renee: Yeah, so whenever anyone gets information for genetic testing, I think a wonderful resource is a genetic counselor of course. I’m a little bit biased there, but genetic counselors are individuals who are specially trained in both the psychosocial reactions and just the technical questions that people might have about their genetic testing results. So, they are a great resource, but other healthcare providers certainly could help guide individuals if they have questions about this information. If someone is interested in looking to find a genetic counselor to answer these questions a great place to start would be www.nfgc.org and they have a find a genetic counselor tool where you can find a genetic counselor near you to help you answer those questions.
Host: Renee, really interesting and thanks for your time today. For more information, please visit www.snhhealth.org, that’s www.snhhealth.org. And if you found this podcast helpful, please share it on your social channels and be sure to check the entire podcast library for topics of interest to you. This is Simply Healthy, a podcast by Southern New Hampshire Health. I’m Bill Klaproth. Thanks for listening.