Kate Payne had good intuition, strong determination, and she's glad she knew about genetic testing. Her father's sister was diagnosed with metastatic breast cancer at 26.
"Aunt Nancy battled that for six years as a pioneer in experimental treatment and research," says Payne, 33, of Raleigh, North Carolina.
"My aunt’s journey and her memory inspired me to seek genetic testing at the age of 30," Payne told HealthCentral in an email interview. "The positive result allowed access to early screening tools. At the age of 31, seven weeks before my wedding, I was diagnosed with breast cancer. Testing and early mammograms that helped doctors find my cancer, DCIS, Stage 0, the earliest possible catch."
DCIS or Stage 0 breast cancer is defined as abnormal cells found only in milk ducts of the breast.
After two failed lumpectomies, she cancelled her honeymoon and made the brave preventive decision to undergo a bilateral mastectomy three days after the wedding. The right breast was removed because it still had cancer cells after the lumpectomies. Removing the left breast was preventative, she says. She's now cancer free.
Two cousins have been tested and are "all clear," but her sister received a positive result for the ATM gene mutation — the same as Payne. The mutation indicates an increased risk for breast cancer, even at younger ages.
You can pick your friends, but you can't pick your family. When it comes to inheriting certain health conditions, many of us wish we could — pick our family, that is.
Even though we can't change that paradigm, we can learn from the adage, "the more you know..." The National Institutes of Health says that one of the strongest influences on our risk of developing heart disease, stroke, diabetes and cancer is — you guessed it — your biological family history. You want to know as much as possible about your risk for conditions that run in families.
Family history, says the Genetic Alliance:
- Captures information on heredity, diet, and environment in one resource
- Identifies trends and patterns of disease that may lead to treatment or prevention
- Increases health and genetics knowledge for the individual as well as the whole family
Remember that each parent gifts you half of your genetic profile.
Must-know facts about family history
- How much to ask: Ready to do a deep dive into your family's health history? You may be wondering "just how deep."
"We typically ask about first-degree relatives such as children, parents, and siblings," said genetic counselor Amy Shealy, M.S., LGC at the Cleveland Clinic Genomic Medicine Institute, in a telephone interview with HealthCentral. "We also ask about aunts, uncles, cousins, and grandparents and after that, we're happy to include whatever else we can."
When you have that chat, ask your family: "In addition to what we've already talked about — all those conditions — anything else that we might have missed or that's unusual? Anything that occurred earlier than might be usually expected?"
Shealy particularly wants to know the age at diagnosis, and as specific a diagnosis as can be provided — it's all helpful.
- What's most important: You probably learned about the impacts of heredity and environment in early science classes. Add to that the powerful punch of lifestyle behaviors to complete a person's total health equation. If you're wondering which is most important, Shealy says: "it depends on the condition."
Many conditions that run in families prove heredity trumps the other two, she says. These include hereditary cancer syndromes and disorders such as cystic fibrosis and sickle cell disease. But others, including many cases of cancer, heart disease, and type 2 diabetes, have a larger non-genetic component. If you have more control over your life, the environment and lifestyle components are greater. Compare that to someone who can't afford money or time to go to the gym, or is working three jobs to make ends meet.
No absolutes: Even with the most hereditary conditions passed from parent to child, there's still typically only a 50/50 chance of inheriting a genetic mutation from the parent. "The only caveat is with people who have identical twins. Their genetic material is typically identical, so for strongly hereditary disorders, if one twin has the condition the other would be expected to as well," she says.
Screenings and diagnostics: If you have a family history of hereditary cancer syndromes, cardiovascular disease, or diabetes, there are good national recommendations or guidelines that discuss surveillance at a certain age. With some rare diseases, there's nothing that can be done to prevent disease from happening, but having knowledge about the condition may help spot complications early. That can often lead to better treatment of symptoms. If you have a question about a condition in your family, ask for a referral to a genetic counselor.
Lifestyle matters: You can't control genetics and traits inherited from parents. Most conditions, however, are not 100 percent controlled by genetics. Taking preventive measures based upon environment and lifestyle may delay onset of disease. "The goal is to do as much as possible to postpone or reduce risk of disease with anticipatory guidance," she says.
Obtaining records: Your genetic counselor can help to get them, including death certificates and autopsy records if necessary. But, not everything is as it might seem. For example, did Aunt Sally with cancer die from that or was she in a car accident?
Other benefits: A family history can also be helpful to identify a condition that might not have been thought of originally during a screening. It can also help determine whether you might pass certain conditions on to your children.
Finally, here's a free and cool tool from the U.S. surgeon general that lets you create a My Family Health Portrait. Start unraveling the mystery of your family history now.
See more helpful articles:
Piecing Together My Family’s Mental Health History
Finding Your Medical History
What is the Role of Heredity in Risk for Arthritis?