Understanding and managing your health often involves navigating complex genetic landscapes. Genetic counseling can be a vital compass, guiding you through the maze of your genetic makeup, especially concerning lung diseases. To help shed light on this crucial aspect of healthcare, we spoke to genetic counselor, Sarah Crowley of SwedishAmerican, a Division of UWHealth, about genetic counseling and how it might help us better understand the risk for lung diseases.

What Is Genetic Counseling?

"Genetic counseling is an appointment where you talk about your health and family history with a genetic counselor," explains Crowley. “A genetic counselor will help see if genetic testing is right for you based on what health issues are in your family,” she says. Working with a genetic counselor, you will explore the relationship between your genetic blueprint and your family’s health history. Genetic counseling goes beyond genetic testing by exploring personal and family health stories to determine if the testing is necessary.

The process will start with a conversation with your primary healthcare provider. They can help talk you through your initial concerns and help you decide if seeking genetic counseling is a good fit for your situation. Genetic counseling, if covered by Medicaid, Medicare or other kinds of insurance, usually requires a physician referral, so plan to start your journey with your primary provider.

If you are referred, the genetic counselor you speak with will ask you about your health history and family health patterns. This careful examination reveals any genetic tendencies that may occur in your family. From children to grandparents, every branch of the family tree is scrutinized, unraveling clues that might hint at underlying genetic conditions.

During the session, you will explore many aspects of your health in depth. The counselor will guide you through family health stories, finding concerns and giving personalized advice. The discussion lasts between 30 minutes to 2 hours to cover everything thoroughly. If the counselor determines that genetic testing needs to be done, they will conduct a blood draw or collect a salvia sample. “The genetic counselor will then help walk you through what the results mean,” says Crowley. 

Genetic Counseling and Lung Disease

While investigating risk for lung diseases may seem daunting, genetic counseling serves as a beacon of hope, illuminating the path forward. "Genetic counseling may be able to give you and your family information on prognosis and treatment for certain lung diseases," Crowly says. With a better understanding of their genetic tendencies, you can actively manage lung diseases, making smart choices for their health. “For example, avoiding smoking is always recommended but there may be other recommendations such as to avoid living at high elevations because that can make the disease worse,” Crowley says. 

One of the primary areas of focus within genetic counseling for lung diseases revolves around identifying specific genetic markers or mutations associated with these conditions. Conditions such as Alpha-1-antitrypsin deficiency are significant, requiring a detailed understanding of their genetic causes.

Also, genetic counseling does not stand alone; it involves both genetics and the environment. "Many genetic lung diseases are multifactorial," explains Crowley. She describes environmental and genetic factors as marbles in a gallon jar. “The number of marbles you start with in your jug is how many genetic variants you have that increase your risk for a specific lung disease,” she says. “Some people are born with a lot of marbles in their jug and some people are born with very few marbles in their jug. The environmental factors we are exposed to in our lives add marbles to our jug, such as smoking or heavy alcohol use.” 

Examples of lung diseases that have a genetic component include:

“When the marbles reach the top of the jug and start to overflow is when the disease shows up,” Crowley explains. “Some people may start with lots of marbles (high genetic predisposition) and have a few environmental exposures (smoking for a few years) that makes a disease happen for them. Other people might have very few marbles at the start (low genetic predisposition) and many years of environmental exposures that never make the marbles overflow the jug.”

“Genetic counselors may be able to help you understand how many marbles you start with in your jug and what you can do to avoid adding extra marbles to your jug in your lifetime,” says Crowley.

Empowering Decision Making and Navigating Challenges

Genetic counseling is crucial in understanding how lung diseases run in families. By studying family history, counselors help families make choices about having children and getting genetic tests for relatives. No matter the inheritance pattern, counselors provide valuable information to guide families.

However, amidst the promise of genetic counseling, it is imperative to acknowledge its limitations. "Not all lung diseases have a known genetic cause or predisposition," says Crowley. Despite progress in genetics, some conditions are still hard to understand and treat. "Genetic counselors will give you the best information they have at the time you see them, but it is important to keep up to date on your family history and discuss this with your doctors or counselors over time as science advances,” says Crowley. 

Preparation is key for success in genetic counseling. By gathering detailed family health records, genetic test results, and information on environmental exposures, you can enhance the effectiveness of your counseling sessions. Additionally, Crowley urges that it is important to be cautious with direct-to-consumer genetic testing, such as 23 and Me. “If you find something concerning on at-home testing, it is important to discuss the results with your doctor or genetic counselor,” she says. “You should confirm these results with clinical genetic testing through certified labs before any medical treatment is started or changed based on those results.”

Genetic counseling is a journey of self-discovery, empowerment, and informed decision-making. Within our genetic makeup lies the blueprint of our health, and genetic counseling serves as a guiding light, helping you uncover your genetic heritage and navigate your health.

Start with your primary care provider if you have questions about genetic testing. You can also connect with the American Lung Association’s Lung HelpLine for answers to your lung health questions. Learn more at Lung.org/helpline.

Asthma Basics Workshop - National
, | Apr 17, 2024
Asthma Basics Workshop - National
, | May 07, 2024