How can you use your results to inform your healthcare?
04.12.2023
Written by Anna Sanniti
Reviewed by Wendi Gill, CGC
Receiving the results of your genetic predisposition for a condition can be empowering, but also confusing. It is important to talk to your provider and genetic counselor about how these results impact you, and how they can be used to improve your health.
In this article, we will discuss:
Why understanding your genetic predisposition for rare diseases can be helpful
How the results can inform your healthcare
How can understanding my genetic predisposition for rare diseases be empowering?
Genetic mutations in certain genes have been closely linked to some rare diseases.
Understanding whether you have these genetic mutations can help you and your healthcare provider understand your risk of developing the condition. By working with your healthcare provider and genetic counselor, you can create a plan to reduce your chances of developing the condition. You may also identify it at an early stage.
How can the results inform my healthcare?
Depending on your result, you can work with your healthcare provider and genetic counselor to create plans and decide on treatment.
If you receive a positive result for a mutation that can increase your risk of developing cancer, you and your healthcare provider can start thinking about prevention and risk-reducing strategies. [1] This may include:
Earlier and more regular cancer screening.
Healthy diet and lifestyle changes
Removing breast tissue
Surgery to remove your ovaries
Using specific drugs that may reduce your risk.
Personal preference is an important factor when making these decisions.
If you have a positive result for a mutation that can increase your LDL-cholesterol levels, you and your healthcare provider can create a plan to minimize the risk of high cholesterol.
This may include:
Regular screenings and check-ups for signs of heart disease or stroke.
Healthy diet and lifestyle changes
Using medication to lower your levels of LDL cholesterol, such as statins or PCSK9 inhibitors.
By creating a plan with your healthcare provider, your risk of developing these conditions can be reduced.
Any results that you receive are also important for your entire family. It is possible that some of your family members also be at risk. Your family may decide to carry out genetic testing to understand their risk of developing the condition. It is important to let them know your results so they can talk to their doctor to make their plans.
Let’s recap
Understanding whether you have a genetic mutation linked to a hereditary condition can help you determine your risk of developing the condition in your lifetime.
By working with your provider and genetic counselor, you can create a plan to reduce your chances of developing the condition.
Plans might include more frequent screening, diet, and lifestyle changes, and medication.
Any results that you receive are also very important for your entire family, and may also impact their healthcare.
We encourage you to share all results with your healthcare providers. They can provide guidance based on your individual situation. Let them know if you have any concerns or questions.