Genetics & Your Health

Genetics & Your Health

Genetics plays a powerful role in shaping your health. For certain conditions, genetic testing and counseling can help you better understand the role that genetics plays and empower you with the information you need to manage your health.

Genetics & Metabolic Disorders

Our metabolism is a complex process in which our bodies produce energy from the food and drink that we take in. This process occurs through a series of steps. Metabolism also involves the removal of waste that is produced during this process. Metabolic disorders refer to a group of genetic conditions in which there is an error somewhere in this process. Specifically, an individual is not able to produce or break down certain enzymes, proteins, and/or other substances needed by the body. For this reason, metabolic disorders are also called biochemical disorders or inborn errors of metabolism.

There are hundreds of different kinds of metabolic disorders. The disorders are categorized by the specific process or pathway that they affect. The primary categories include:

  • Amino acid disorders
  • Carbohydrate disorders
  • Fatty acid oxidation disorders
  • Lysosomal disorders (e.g Fabry disease)
  • Mitochondrial disorders
  • Organic acid disorders
  • Peroxisomal disorders
  • Urea cycle disorders (e.g. OTC deficiency)
  • Congenital disorders of creatine metabolism
  • Congenital disorders of glycosylation
  • Lipid metabolism disorders (e.g. familial hypercholesterolemia)
  • Metal metabolism disorders (e.g. Wilson disease)
  • Purine and pyrimidine metabolism disorders
  • Porphyrin metabolism disorder
  • Vitamin and cofactor metabolism disorder

Metabolic disorders may affect a single part of the body, or multiple body systems, depending on what specific pathway is involved. Individuals may have limited to no symptoms or may present with life-threatening episodes. In addition, symptoms may vary between infancy to childhood to adulthood, can be progressive, and at times life-limiting. A metabolic disorder may be suspected in people with developmental disabilities, seizures, poor growth, and periods of regression.

Diagnosis of a metabolic disorder is made through the careful evaluation of an individual’s medical and family history, physical examination, and measurement of specific levels of certain substances in the blood and urine. In some cases, imaging studies, measurement of levels of certain substances in other body tissues (e.g. skin or muscle), and/or genetic testing may be recommended.

For many metabolic disorders, there is specific management and treatment available. In general, treatment is focused on reducing and eliminating the buildup of these toxic substances in the body. This may be done through a specialized diet, taking supplements, or avoidance of triggers, and some metabolic conditions can now even be treated by replacing the missing enzymes.

Genetics & Your Brain

Controlling more than just your thoughts, your brain is involved in functions that seem simple, such as eating and breathing, as well as functions that are complex like your interactions with the wider world, processing emotions, and learning new information. While many people think about genes contributing to our physical features, such as eye color or height, some genes influence how our brain develops and continues to function during our lifetime. These genes can influence how your brain is shaped, how you develop, how you process and interact with the world around you, and how your brain communicates with your body. These genes help control the internal mechanics that build all of the tissues in our brain and then how the brain communicates through neurons and the internal network.

Genetic conditions that affect the brain may do so in a variety of ways. These conditions may impact the overall development, structure, or size of the brain to whether the brain is able to produce or utilize important proteins to function and communicate to the many interactions with the other factors to form complex conditions like dementia and Autism spectrum disorder to much more that we are still uncovering.

As researchers continue to delve into the mysteries of genetics and your brain, here are different categories and examples of some genetic brain conditions:

Genetics & Your Heart

The heart is one of the more complex and vital organs in our body, responsible for pumping blood that carries oxygen all throughout our bodies via the blood vessels. To better understand health conditions that can affect our heart, it is important to first have an understanding of how the heart is supposed to work.

As you can see, the heart is divided into four main chambers: the left atrium and right atrium at the top, and the left ventricle and right ventricle at the bottom. The blue on the diagram is blood that has already delivered oxygen to the body (deoxygenated blood) and is coming back to the heart to get more. The deoxygenated blood comes into the right atrium via two structures called the superior vena cava and the inferior vena cava. Then the right atrium pumps the blood through the tricuspid valve into the right ventricle. The right ventricle then pumps the blood out of the pulmonary artery to the lungs.

When the blood gets to the lungs, it gathers up more oxygen and then is pumped through the pulmonary veins into the left atrium. The left atrium pumps blood through the mitral valve into the left ventricle. Then, the left ventricle pumps blood out the aorta, which delivers it back out to the body. This is how our blood can circulate and repeatedly carry oxygen to all the different organs and tissues in our body.

The heart also has an electrical system that sends out signals that trigger the heart muscles to contract, which controls our heart rate and our heart rhythm. The electrical signal starts at the top of the heart called the sinoatrial node, which functions as a kind of a natural pacemaker, and that signal travels down the heart, stimulating the atria and then the ventricles to contract, which produces our heartbeat.

Cardiovascular Disease

Cardiovascular disease is a term that can be used to describe a group of health conditions that affect the heart and/or blood vessels. There are many different things that can contribute to our cardiovascular system not functioning as it should, including age, environment, and lifestyle factors such as diet and exercise. There are certain types of cardiovascular disease that can be more strongly genetic, or hereditary, and can appear to run in families.

Conditions that directly affect the heart are generally broken up into two main categories: arrhythmias (which affect the electrical system in the heart), and cardiomyopathies (which affect the structure and muscle of the heart). Some heart conditions affect both the rhythm and the structure of the heart, so may fit into both the arrhythmia and cardiomyopathy categories.

Conditions that affect the cardiovascular system as a whole can lead to a buildup of cholesterol in the body or an increased chance for blood vessels to rupture. Other conditions may include those that affect the formation and overall structure of the heart and/or blood vessels, called congenital heart defects.

It can be difficult to determine if someone has an increased hereditary risk for cardiovascular disease, so meeting with a provider who is experienced with cardiovascular genetics is important to get the most up-to-date and accurate information. Below are some cardiovascular conditions that may be more likely to be hereditary:

Genetics & Connective Tissue Disorders

Our bodies are made up of many different muscles, organs, and bones. Connective tissue is a type of tissue in the body that helps to hold everything together, like a glue for your body. We have over 20,000 different genes in the body. These genes are like instruction manuals for how to build a protein, and each protein has an important function that helps to keep our body working how it should. There are many of these proteins that either help to make connective tissue, or help the connective tissue function properly. If someone has a non-working copy of one of these genes, it can cause a connective tissue disorder.

There are thought to be over 200 different disorders that can affect our connective tissue, and they are all quite variable. Some can cause very little health impact, while others can cause serious (sometimes even life-limiting) medical concerns.

As genetic research continues to learn more about our genes and how they affect our bodies, there are likely to be more specific types of connective tissue disorders that are discovered. Some of the more common connective tissue disorders we know about thus far include:

Genetics & Personalized Medicine

Precision medicine is often used interchangeably with “personalized medicine” and “individualized medicine.” All of these terms describe an approach to healthcare that focuses on individual differences in genetics, environment, and lifestyle rather than a “one size fits all” kind of care. One aspect of precision medicine uses tests for certain biomarkers, like genetic variations, that will help to identify which groups of people will benefit from which targeted treatments and prevention plans.

Only recently has technology advanced enough to allow researchers to have the ability to test for these genetic variations. Some of these tests involve one or a few genes (genetic testing) or many or all of the genes (whole genome testing). While whole-genome testing is available, the interpretation remains very complex and carries with it the potential for a lot of uncertainty.

However, the National Institutes of Health (NIH) has been charged with a long-term research endeavor called the Precision Medicine Initiative to help us learn how this kind of care can help society. With the information generated from this research, we can begin to understand how individual differences in lifestyle, environment, and genetics can change disease expression.

Most precision medicine genetic testing involves panels of genes. This means there are several genes that may fall into different categories, but it’s important to realize that not all of these genes have been thoroughly studied yet and may not provide actionable information. Some laboratories will offer the testing by category, some will offer combinations of categories, and some will offer it as a comprehensive test covering many different health interests. Much of the research in the field is very new and it may be wise to have some caution. We encourage you to discuss it more thoroughly with your care team or an expert.

As with other types of genetic testing, it is important for you to consider the implications of precision medicine information. Deciding on whether or not to have any genetic test is a very personal decision. Some people choose to perform genetic testing because they feel it will empower them to make informed decisions that will lower the risk for disease. Some people do not feel that they are ready to know what could be revealed by genetic testing. This can be due to many different reasons, including feeling overwhelmed by other health concerns, feeling that the test results would not affect how they approach their medical care, or not wanting to know about risks that have no treatment options. These are all important issues to consider when deciding about precision medicine genetic testing.

Genetic Support Foundation is a resource for you – translating the science and helping you understand what it means for you and your family. We have information on a variety of different genetic tests that are currently on the market, but as this is a rapidly changing landscape, we will continue to keep you updated on many new and exciting discoveries generated by important studies like the Precision Medicine Initiative.
We have broken down the different categories of precision medicine genetic testing; please keep in mind that some of these tests are for informational purposes and not recommended for altering medical decisions.

Have questions?

Do you have questions about pediatric or adult genetic conditions? Talk with one of our genetic counselors.

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