Genetic testing is a medical test that looks at the changes within your genes, chromosomes, and/or proteins.
You're made up of 46 chromosomes in 23 pairs that you inherit from both of your parents.
The reason why you might decide to have a genetic testing is because you want to know your chances of developing, or passing on, a genetic disorder.
Genetic disorders are often grouped by how they run in your family and can either be dominant (which means it can be caused by only one copy of a gene) or recessive (both copies of the gene have to contain a DNA mutation).
If you were to get a genetic test, what are its limitations?
Dr. Mike discusses what genetic testing is, how it can be beneficial, and its limitations.
Selected Podcast
Is Genetic Testing All Hype?
Transcription:
RadioMD Presents:Healthy Talk | Original Air Date: April 2, 2015
Host: Michael Smith, MD
Anti-aging and disease prevention radio is right here on RadioMD. Here's author, blogger, lecturer and national medical media personality, Dr. Michael Smith, MD, with Healthy Talk.
DR MIKE: Is genetic testing all hype? Well, let me give you a simple answer. No. Absolutely not. No way. It's really, really cool and I'm excited about the potential that genetic testing has, specifically in disease prevention. But, I do think we need to make sure there's no confusion here. I'm not talking about gene therapy. That's different. As a matter of fact, I had a couple friends of mine who were listening to President Obama's last State of the Union address and he apparently talked about the exciting field of gene therapy, genomics, and he wants to put more money into that. I think that's great. As a matter of fact, I have the quote here. This is he said:
"I want the country that eliminated polio and mapped the human genome to lead a new era of medicine. In some patients cystic fibrosis, this approach has reversed disease once thought unstoppable," adding that, "This kind of personalized medicine could lead to cures for cancer and diabetes."
So, what he's really referring to there is something called "gene therapy" where you identify a mutated gene in somebody with cystic fibrosis. That's tough to say. Say that three times real fast. You replace the bad gene with a good one. It's gene therapy. We're making some headway there, but my personal opinion is that's still well into the future. At least, bringing gene therapy into everyday practice is well into the future. But, that's awesome. We need to put some more money behind it. Thank you, President Obama. I think that's a great idea and I'd love to see more research.
But, that's not what I'm talking about. I'm talking about genetic testing—what are called "genome wide association studies". It's different because what we're doing with genome wide association studies, what we're calling "genetic testing" is looking at a healthy person, scanning their DNA and identifying small little changes in genes that might mean developing a disease later. That kind of information is powerful because what I can do now is create a personalized program—a preventative program for that person to decrease the risk of developing that disease that their genes say they might be prone to getting. That's genetic testing. It's powerful because we all know that if we want to save money; if we want to save lives, the best way to do that is not to get disease in the first place. So, gene therapy is awesome. I want President Obama to really do what he said here in the State of the Union address. I want to see more money looking at gene therapy, but we can already do a lot with genetic testing in what are called "genome wide association studies" in disease prevention, which is really where the power lies in health and longevity.
So, what I want to present to you are some slides that I did for a conference out in New Jersey called The Dr. Magaziner Conference. Dr. Magaziner is, you might call him one of the original practitioners, one of the "fathers", if you will, of integrative medicine. He does a yearly conference out there in New Jersey. I was invited. Suzanne Somers was there this past year. I presented a lecture on personalized medicine and it kind of went with my book, The Supplement Pyramid about building personalized nutritional medicine. In this lecture, I talked towards the end about genetic testing and the power it can do in helping us to prevent disease.
So, what is a genome wide association study? This is the whole basis of genetic testing. What you do is, you take people that have been diagnosed, without a doubt, with something like depression and you get maybe 1000 of them. The more the better. Ten thousand. So, 10,000 (I'm just making these numbers up) with major depression disorder. Absolutely diagnosed. There are no if, ands or buts about it. These people have major depression. You scan their genome and what you look for are common small changes to their genes. These are called "single nucleotide polymorphisms".
So, you take all 10,000 people, you draw their blood, you scan all these genomes and you find where there are these genetic changes that are common to all of these people with major depression. Let's say you find 10 genes that have three or four small changes in them and 90% of the people with major depression have those same changes. That's a genome wide association, see? So, now what you can do, if you're interested, you can check your own genome. Get your own blood drawn and check your genome and see if you have some of those same changes. If you do, that might be an indication that you are at risk for major depression. If your genes and those small changes match, those changes that people with major depression have, maybe that's an indication that you need to go on a depression prevention protocol. That's the power of genetic testing. It's really not that hard. Blood is probably the best way to do it, but you can do saliva. They do a Q-tip and just go around your mouth. What you're going to do is collect your blood or saliva. You're then going to map out your genome looking for certain small, little changes that have already been noted in certain diseases. As a matter of fact, there's a website. The website is genome.gov/gwastudies. That stands for "genome wide association studies". That's genome.gov/gwastudies. What you'll find on that site are all the different, small little genetic changes they have found with, I think, about 200 common diseases. So, you, literally, can go in there and compare your genes with this database and see if you have any of these changes. The government has set up this really cool page on this site where there's a search bar and you can put in "depression", for instance. You'll see the results, then, of all the different small, genetic changes that are associated with major depression and you can just see if you have those changes based on your own genome and your own results.
Again, why is this so interesting to me? Why is this so powerful? Well, because if I know that kind of information, now I can really personalize my approach in helping you in preventing depression. I can do the same thing with diabetes. I can do the same with age-related mild cognitive dysfunction. I can do the same thing with liver disease and kidney disease. I mean, there's a whole host of genome wide association studies that we've already done. As a matter of fact, the very first one was done with macular degeneration, the most common cause of blindness in people over 60, or 65.
I mean, I could test your blood against that and say, "Oh, yes. You have those same changes. People that have macular degeneration have these changes and, guess what? You kind of match those. We need to put you on a macular degeneration prevention protocol." Do you see the power in that? That's what medicine is about. If I can prevent you from getting ill, man! That's really what my job is.
If you don't get ill, I mean, that's how we're going to save money. That's how we're really going to impact health and longevity. So, genetic testing is awesome. It's not all hype. It is stepping up what it should be: the most powerful prevention tool that we're soon going to have and, hopefully, be using in everyday practice. Right? Part of your daily routine should be to start checking your genome, "Hey, you've got the genes for cognitive dysfunction. We need to protect you from that." That's the power of genetic testing.
This is Healthy Talk on RadioMD. I'm Dr. Mike. Stay well.
RadioMD Presents:Healthy Talk | Original Air Date: April 2, 2015
Host: Michael Smith, MD
Anti-aging and disease prevention radio is right here on RadioMD. Here's author, blogger, lecturer and national medical media personality, Dr. Michael Smith, MD, with Healthy Talk.
DR MIKE: Is genetic testing all hype? Well, let me give you a simple answer. No. Absolutely not. No way. It's really, really cool and I'm excited about the potential that genetic testing has, specifically in disease prevention. But, I do think we need to make sure there's no confusion here. I'm not talking about gene therapy. That's different. As a matter of fact, I had a couple friends of mine who were listening to President Obama's last State of the Union address and he apparently talked about the exciting field of gene therapy, genomics, and he wants to put more money into that. I think that's great. As a matter of fact, I have the quote here. This is he said:
"I want the country that eliminated polio and mapped the human genome to lead a new era of medicine. In some patients cystic fibrosis, this approach has reversed disease once thought unstoppable," adding that, "This kind of personalized medicine could lead to cures for cancer and diabetes."
So, what he's really referring to there is something called "gene therapy" where you identify a mutated gene in somebody with cystic fibrosis. That's tough to say. Say that three times real fast. You replace the bad gene with a good one. It's gene therapy. We're making some headway there, but my personal opinion is that's still well into the future. At least, bringing gene therapy into everyday practice is well into the future. But, that's awesome. We need to put some more money behind it. Thank you, President Obama. I think that's a great idea and I'd love to see more research.
But, that's not what I'm talking about. I'm talking about genetic testing—what are called "genome wide association studies". It's different because what we're doing with genome wide association studies, what we're calling "genetic testing" is looking at a healthy person, scanning their DNA and identifying small little changes in genes that might mean developing a disease later. That kind of information is powerful because what I can do now is create a personalized program—a preventative program for that person to decrease the risk of developing that disease that their genes say they might be prone to getting. That's genetic testing. It's powerful because we all know that if we want to save money; if we want to save lives, the best way to do that is not to get disease in the first place. So, gene therapy is awesome. I want President Obama to really do what he said here in the State of the Union address. I want to see more money looking at gene therapy, but we can already do a lot with genetic testing in what are called "genome wide association studies" in disease prevention, which is really where the power lies in health and longevity.
So, what I want to present to you are some slides that I did for a conference out in New Jersey called The Dr. Magaziner Conference. Dr. Magaziner is, you might call him one of the original practitioners, one of the "fathers", if you will, of integrative medicine. He does a yearly conference out there in New Jersey. I was invited. Suzanne Somers was there this past year. I presented a lecture on personalized medicine and it kind of went with my book, The Supplement Pyramid about building personalized nutritional medicine. In this lecture, I talked towards the end about genetic testing and the power it can do in helping us to prevent disease.
So, what is a genome wide association study? This is the whole basis of genetic testing. What you do is, you take people that have been diagnosed, without a doubt, with something like depression and you get maybe 1000 of them. The more the better. Ten thousand. So, 10,000 (I'm just making these numbers up) with major depression disorder. Absolutely diagnosed. There are no if, ands or buts about it. These people have major depression. You scan their genome and what you look for are common small changes to their genes. These are called "single nucleotide polymorphisms".
So, you take all 10,000 people, you draw their blood, you scan all these genomes and you find where there are these genetic changes that are common to all of these people with major depression. Let's say you find 10 genes that have three or four small changes in them and 90% of the people with major depression have those same changes. That's a genome wide association, see? So, now what you can do, if you're interested, you can check your own genome. Get your own blood drawn and check your genome and see if you have some of those same changes. If you do, that might be an indication that you are at risk for major depression. If your genes and those small changes match, those changes that people with major depression have, maybe that's an indication that you need to go on a depression prevention protocol. That's the power of genetic testing. It's really not that hard. Blood is probably the best way to do it, but you can do saliva. They do a Q-tip and just go around your mouth. What you're going to do is collect your blood or saliva. You're then going to map out your genome looking for certain small, little changes that have already been noted in certain diseases. As a matter of fact, there's a website. The website is genome.gov/gwastudies. That stands for "genome wide association studies". That's genome.gov/gwastudies. What you'll find on that site are all the different, small little genetic changes they have found with, I think, about 200 common diseases. So, you, literally, can go in there and compare your genes with this database and see if you have any of these changes. The government has set up this really cool page on this site where there's a search bar and you can put in "depression", for instance. You'll see the results, then, of all the different small, genetic changes that are associated with major depression and you can just see if you have those changes based on your own genome and your own results.
Again, why is this so interesting to me? Why is this so powerful? Well, because if I know that kind of information, now I can really personalize my approach in helping you in preventing depression. I can do the same thing with diabetes. I can do the same with age-related mild cognitive dysfunction. I can do the same thing with liver disease and kidney disease. I mean, there's a whole host of genome wide association studies that we've already done. As a matter of fact, the very first one was done with macular degeneration, the most common cause of blindness in people over 60, or 65.
I mean, I could test your blood against that and say, "Oh, yes. You have those same changes. People that have macular degeneration have these changes and, guess what? You kind of match those. We need to put you on a macular degeneration prevention protocol." Do you see the power in that? That's what medicine is about. If I can prevent you from getting ill, man! That's really what my job is.
If you don't get ill, I mean, that's how we're going to save money. That's how we're really going to impact health and longevity. So, genetic testing is awesome. It's not all hype. It is stepping up what it should be: the most powerful prevention tool that we're soon going to have and, hopefully, be using in everyday practice. Right? Part of your daily routine should be to start checking your genome, "Hey, you've got the genes for cognitive dysfunction. We need to protect you from that." That's the power of genetic testing.
This is Healthy Talk on RadioMD. I'm Dr. Mike. Stay well.