In the United States, genetic diseases account for the majority of deaths each year. According to the CDC: “The data suggest that at least a third of those deaths every year are potentially preventable.” Unfortunately, many Americans end up detecting these diseases after the point of treatment. If many of these deaths are preventable, why do so many people continue to die from them each year?
The answer lies in the fact that many Americans aren’t screening themselves often enough or monitoring their genetic risk factors.
Many of us know someone who has been affected by cancer or other types of deadly diseases. Still, many of us are unaware that we can inherit specific genes that will increase our risk of developing these conditions. Testing for and being aware of these genetic risk factors can help to lower the risk of actually developing deadly conditions by taking preventative measures.
Do you and your family share the same hair or eye color? Like these common genetic traits, the risk of developing a particular disease can be passed down from a parent or grandparent.
Genes are the genetic information that you inherit from your parents and carry instructions that determine everything from your features to your height. They are also why many of us are at risk of developing a deadly disease later on in life. However, in many cases, diseases do not originate from a single cause. It usually takes a combination of your genetic makeup, your environment, and the lifestyle choices that you make.
How Do Genes Cause Disorders?
Most of the genes that we receive from our parents are exact copies and function the same way. However, in some cases, a gene is not an exact copy. When changes in our genes occur, they are called mutations, and everyone on the planet has them. Some rare mutations are beneficial and can even work better than the original gene. Other mutations do not affect our bodies at all. Then there are some which cause huge problems.
A condition that is triggered by a genetic mutation is known as a genetic disorder. Some uncommon diseases are caused by a mutation in one single gene. These rare diseases are known as “single-gene disorders” and only affect a small portion of the population. However, the most commonly occurring conditions are caused by a combination of factors, including genetics, your environment, and lifestyle choices. These are mainly preventable diseases.
Mutations can be both hereditary and acquired. Hereditary mutations are those that are inherited from parent to child. Acquired mutations are the genetic changes that happen over a lifetime. These acquired mutations are more common than we realize and can be caused by simple things, such as ultraviolet radiation from the sun.
Acquired mutations happen in specific cells known as somatic cells. Somatic cells are the diploid (chromosomes from each parent) cells that make up most of our bodies. Mutations in somatic cells, such as developing skin cancer, will affect the individual but will not be passed down to their children.
How Do Mutations Cause Genetic Diseases?
Proteins are found in almost every part of the body and make up most of the body’s tissues. They are also what make up the essential enzymes that carry oxygen in our bloodstream. There are over 10,000 unique proteins found in the human body and they help to keep it running smoothly. However, the genes responsible for creating these proteins can also be the cause of serious problems.
When genes that contain the instructions for making the body’s proteins have mutations, they can create issues for entire systems in the body. These problems can occur in several ways.
Every new cell created throughout the body’s lifespan also contains a copy of your genes. If those copies have a mistake, it can lead to some major issues. For instance, certain gene mutations will increase your risk of developing specific types of cancer.
Additionally, environmental factors can also directly change the DNA inside a cell. For example, the sun’s ultraviolet light can damage the DNA within any cell exposed to it. If that damage goes untreated, these damaged genes will be copied any time your body creates new cells from their instructions.
You might have heard that genes are the direct cause of specific conditions. While that is somewhat true, it isn’t exactly correct. When you hear someone talk about genes that cause disease, most likely they are referring to genes that have developed some type of mutation. These genes should create healthy, functional proteins normally, but a mutated gene might instead cause genetic diseases.
Take, for example, a gene known as “CFTR.” This is a gene existing in everyone’s genome, but when a mutation is present, it could cause cystic fibrosis.
In most cases, the body does an excellent job of copying genes correctly. This is mainly due to the many natural safeguards the body has to correct potential mistakes. However, when you think about the billions of new cells that your body creates throughout its lifetime, you realize that some mistakes are bound to happen.
Even if the body makes a mistake and copies a gene incorrectly, most of these imperfections still function correctly, or at least function enough to do their job. There are only a small number of genetic mutations that are known to create genetic disorders. In fact, in some cases, the body can repair these damaged genes to prevent a disease from developing. In uncommon cases, a mutation can even become a biological advantage that might make the body resistant to certain diseases.
What Are Other Common Types of Mutations?
One form of mutation occurs when some genes are copied incorrectly; however, some people can also have abnormal amounts of genes.
Generally speaking, a healthy individual will have two copies of every gene. These are genes that are inherited from each parent. In some unusual cases, individuals are born with one, three, or even more copies of a specific gene.
Conversely, it is also possible for a gene to be missing altogether. This type of genetic abnormality is referred to as a “copy number variation” or CNV. You might be able to imagine how having an absent gene might present a problem, but having an extra gene can be just as bad. Imagine having too many workers in one place, competing to perform the same job.
Genes are housed within the chromosomes, which are the threadlike structures located in all animal and plant cells’ nucleus. Humans have a total of 46 chromosomes or 23 pairs. Some individuals have extra copies, and some are missing chromosomes.
In some instances, chromosomes can be broken, and a piece of one can end up where it doesn’t belong. Having a broken chromosome is similar to having a missing chromosome, as the instructions are incomplete. These changes to the body’s chromosomes can affect one’s growth and development or even how an entire system functions.
Many conditions are related to genetics in one way or another. Mutations can occur in just one gene; however, most genetic disorders are more complicated than that. Numerous conditions, such as diabetes or heart disease, are caused when multiple genes have issues combined with environmental and lifestyle factors.
How Does Lifestyle Impact My Health?
While it is true that genes play a critical role in the development of genetic disorders, certain “environmental factors” can be just as impactful to your health. Environmental factors could be several circumstances ranging from the water you drink to how much sunlight you absorb daily. These factors can also include other lifestyle choices such as exercise to whether you are a smoker.
Here are several additional lifestyle factors that could impact genetic disorders:
- Stress load: While it might not seem very significant, the amount of stress in your life could have an impact on whether or not you develop high blood pressure, diabetes, depression, or heart disease. That is why it is essential to find an effective way to manage your stress levels, whether by going to therapy, cutting back on alcohol, or even just taking a walk around the block.
- Smoking: Most people are well aware of cigarette’s ability to cause over ten types of cancer. These cancers can include lung, liver, kidney, and even colon cancer, not to mention a host of other life-threatening conditions. Quitting smoking is a great way to reduce your risk of developing a genetic illness.
- Obesity: Obesity in all age groups is linked to conditions such as type 2 diabetes, cancer, stroke, sleep apnea, and osteoarthritis.
If you have ever tried to quit smoking or lose weight, you probably know how difficult making healthy choices can be. Unfortunately, we can’t change our genes, so we have to rely on old-fashioned self-control.
Managing Your Risks for Genetic Diseases
We now understand that lifestyle choice significantly impacts many risks for diseases such as heart disease. If you compound unhealthy lifestyle choices with a genetic risk factor, you could be playing with fire. However, even if you have never had a genetic analysis done, there are many things you could do to lower your risk.
For example, even if you are a carrier of any of the genes that have been shown to contribute to obesity, you can still minimize the amount of fat your body stores, which will greatly lower your risk of developing heart disease.
With this in mind, the best advice for anyone looking to manage their genetic risk factors is to get enough exercise, eat a healthy diet, quit smoking, and reduce sodium intake. Coincidentally, following this advice could help activate the body’s beneficial genes and switch off the harmful ones.
Knowing Your Family History
Researchers have been able to identify over a dozen genes that could increase certain people’s chances of developing heart disease later in life. However, while those genetic connections help determine risks, looking at your family history is equally important. For example, if your father had a heart attack around the age of 60, you are around 2.5 times more likely to suffer from heart disease than someone who does not have that family history.
A great deal of potential risk does originate from your genetic composition; however, family history can also play an important role when it comes to risk management.
For instance, if you grew up in a household that ate unhealthy food often or smoked often, it is quite likely that those influences contributed to your family history of the disease. It could also increase your likelihood of developing similar conditions in the future. No matter what your family history involves, you can make common lifestyle improvements to reduce your risk significantly.
Almost two decades ago, when the human genome mapping was completed, doctors were hoping that this genetic “blueprint” would open up doors to allow medicine to become more personalized.
They were hoping for a more finely-tuned approach to healthcare based on the risk factors that are hardwired into your DNA. While there have been improvements to how genetic diseases are treated, predicting conditions based on mutations has not quite lived up to the personalized level that doctors hoped it would be.
However, genetic testing can play a critical role in determining how people will respond to certain drugs and whether they will be an effective treatment. Additionally, by developing a more precise picture of a person’s genetic makeup, more risk factors can be identified before developing into something more serious.
As we learn about the relationship between DNA and the risk factors for developing genetic diseases, the more accurately we can predict the best course of action for the individual at risk.
There is No Cure-all
At the moment, no cure-all pill could repair genetic mutations or eliminate your genetic risk factors. However, that does not mean that you are completely helpless. By understanding your genetic risks and making the necessary lifestyle changes, you can significantly decrease your chances of developing a genetic disease, even if your family history is less than hopeful. By targeting known lifestyle methods, even those with a strong family history can overcome the odds.
If you would like to learn more about how Genealogy Care can help you to screen for and prevent genetic diseases, check out this post.