Written by Amber Erickson Gabbey | Published on February 26, 2014
Medically Reviewed by George Krucik, MD, MBA on February 26, 2014

What Is Genomics?

Genomics is the study of genes and DNA in a person or another living organism. Genomics studies how genes interact with other genes, the environment, and otherfactors—both as single units and as a whole.

A genome is an organism’s full set of DNA. Nearly every cell in an organism has a copy of this genome. DNA is responsible for both the physical features of an organism and the chemical processes that occur within it. Mutations in the DNA can lead to the production of abnormal proteins, which can interfere with normal bodily processes or cause illness.

What Is the Purpose of Genomics?

Genomics can provide a better understanding of how genes, lifestyle choices, and environmental factors can impact health.

Although humans share many genes, there is some variation. This variation can be the reason why some people are more susceptible than others to certain illnesses. While a predisposition to an illness doesn’t necessarily mean the illness will occur, there is a stronger likelihood it will. Certain environmental or behavioral factors also play a role in whether a disease develops—for instance, diet, exercise, stress levels, and proximity to pollutants or toxins.

For many rare diseases, diagnosis can be challenging. Being able to study the person’s genes to identify where a mutation has occurred can allow for a more complete diagnosis.

While genomics is still a young field of science, it has important implications for people’s health. This is especially true for genetic diseases. It is possible that, in the future, genomics will help to determine individual risk for common diseases, such as diabetes, and add a personalized dimension to healthcare.

How Can Genomics Be Applied?

Genomics can help to explain why certain diseases affect some people and not others. Genomics and gene testing have the potential to be helpful tools for improving public health, preventing disease, and treating disease with more appropriate interventions.

Genomics can be used to determine whether an individual has inherited a genetic likelihood for a certain disease. Be sure to tell your doctor about any diseases commonly found in your family. This information can guide your care, from knowing when to screen to helping with prevention.

If someone in your immediate family is diagnosed with a genetic condition, your doctor might recommend genetic testing.

Genetic Testing

If you suspect you are at risk for certain diseases because of your family history, ask your doctor about genetic testing. Knowing whether you are at risk for a disease could guide you toward healthier lifestyle choices, more aggressive screenings, and preventive medicine or treatments.

When a parent is a suspected carrier of a rare disease, it is common for genetic testing to be carried out on fetuses or newborns. Early testing can determine the risk of the child being born with a disease or developing a disease later in life. The family and the doctor can then discuss the risk, the implications, and next steps.

Some common diseases and complications that could be prevented or more successfully treated with gene testing include:

  • breast cancer
  • ovarian cancer
  • heart disease
  • colorectal cancer
  • stroke
  • diabetes

Since genomics is relatively new to clinical practice, it has not yet been perfected. Tests can be wrong or invalid, leading to incorrect or unnecessary health decisions. More evaluations, improved testing, and a clearer idea about the benefits and risks of genomics is needed for the field to continue to grow.

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