Getting to Know You

Learning about your family’s medical history plays an important role in your own health.

When Odenton mom of four Michelle* got a Facebook message from her niece Emily* early this spring, she was pleased but surprised it came up on her phone. Emily, in her early 20s and recently engaged, was writing with not-so-great news. She had been to see her OB/GYN for a routine checkup and to get on birth control. Her doctor, while helping determine which birth control method would be best for Emily, asked if she had any family history of blood clots. Emily remembered her maternal grandmother mentioning that she'd had some issues with blood clots while she was pregnant, and at a few other times during her life. So Emily’s doctor suggested she get tested for a genetic blood clotting disorder called Factor V Leiden. 

She did, and turned out to test positive for the condition. According to the Mayo Clinic, Factor V Leiden, is a mutation of one of the clotting factors in the blood that can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs. While the disorder isn’t terribly serious, it significantly predisposes those who have it to clotting, and can be especially women dangerous to women who are on hormonal birth control, and during pregnancy. It’s also an issue to monitor closely when undergoing any major surgeries. Emily thought, quite wisely, that she should contact her cousins—Michelle’s four children and two other cousins. Two of Michelle’s three girls are already in college, and her oldest, Taylor,* was already on hormonal birth control. After checking in with the girls’ doctor, who ordered the simple blood test at their next visits, it was confirmed that all three were Factor V positive (their brother hasn’t been tested yet). “[My eldest’s] doctor called and said “Yeah, she’s got it, she’s positive, so she should stop the birth control immediately.”

ThinkstockPhotos 507845606The good news for Michelle and her family is two-fold. First, Factor V Leiden thrombophilia is not a severe genetic condition. Between three and eight percent of Caucasian and one to two percent of African American and Hispanic people have the disorder, and many of them are none the wiser. According to genome.gov, “There are some individuals who have the F5 gene and who never develop thrombosis, while others have recurring thrombosis before the age of 30.”
But for Michelle and her family, that didn’t matter. She’s just happy to know what the kids are up against and thankful that her niece gave them the heads-up.

“That’s what we call cascade testing,” says Margo Gallegos, MS, CGC, a genetic counselor at Anne Arundel Medical Center. “It’s the lingo for when someone discovers that they have a genetic predisposition or genetic mutation, and then they report it to their family members, and it basically sets off a cascade of family members being tested for that known familial mutation.” 

According to Amy Curry Sturm, on a National Society of Genetic Counselors blog, “Cascade genetic testing is one of the most effective and cost-efficient ways to identify individuals who are known to be at risk for an inherited condition such as heart disease and cancer. It’s the process of testing through a family in a specific order to identify all of the relatives who did, or did not, inherit a genetic mutation that is causing the condition of concern in the family.”

Learning About Your Family
Michelle’s family situation is not a warning to go out and have you and your family tested for FVL. But it is an important reminder that knowing your own family’s medical history is key to understanding and protecting your own health. The more you know about your history the easier you can assess your risks for genetic conditions and health problems like heart disease and diabetes, blood disorders and cancers.
Beyond knowing your obvious risks such as a family member having breast or ovarian cancers, or conditions like heart disease or high blood pressure, it’s also important to know what sets of disorders are prevalent in your family and even who they don’t affect. Because the more information you can collect, the better, as “most common familial disorders like diabetes or auto-immune disorders or hematologic diseases are what we call multifactorial,” says Gallegos. Which basically means the combination between genetics, environment and lifestyle can impact your chances of getting something that runs in families.

Getting Started
When you’re ready to start collecting data on your family health history, it might be daunting. But the good news is, you don’t have to call all of your second cousins and your great aunt (though maybe you should, she’d probably love a call). Instead, focus on your immediate family and your first and second degrees of relation.

First-degree family members include your parents, siblings, and children. Second-degree relatives are your grandparents (or grandchildren), aunts, uncles, nieces, nephews and half-siblings. Third-degree family members include first cousins, and great aunts or uncles. “Anything beyond three degrees of relation is considered to be general population,” says Gallegos, “meaning that there’s enough genetic distance from that person that it’s not considered to be high risk.”

Once you’ve determined whose health to consider, genetic counselors suggest collecting the following information for each person that you can that’s of a first- or second-degree relation to you:
Age or date of birth (and, for all family members who have passed on, age at death and cause of death). When the information is unavailable, write down your best guess (for example, “40’s”). Gallegos adds, “When you’re gathering information, try to get as specific as you can, while also recognizing that people don’t always remember the specific language. But they remember concerns.”

“Ask about the age at which they were diagnosed. That’s also very important,” says Gallegos. “When we’re thinking about hereditary components or genetic predispositions, the earlier onset something is, the more concerning it is for a genetic predisposition. For example, in the cancer field, we use 50 sort of as the cutoff for what is considered early or late onset. Unfortunately everyone has a risk of developing cancer in their lifetime, but most of the time the cancer occurs later in life. If something happens earlier in life that is more concerning for a genetic family.”

Screen Shot 2018 09 24 at 10.55.46 AMFamily Tree
Once you’ve started collecting your family’s history, you might be looking for a good way to organize it that will be helpful to you, your family members, and your doctors. The National Society of Genetic Counselors suggests making a Family Pedigree, which is essentially a family tree with a bit of medical history mixed in. You can find an example here. The organization suggests collecting as much data as you can, including family histories of cancer, heart disease, diabetes, asthma, mental illness, high blood pressure, stroke, kidney disease and alcoholism.

What if you don’t have access to your history?
Perhaps you were adopted, or your parents are already gone and you have no information on their families, don’t dismay. Gallegos says it’s fairly common for people to not know their family histories. She suggests in the absence of a complete history: “maintaining a healthy lifestyle, reducing your risk factors as much as possible, asking your doctor about medical management, following general population screening guidelines like getting your mammograms at 40, getting your colonoscopies at 50,” etc.

Now That You Know
Unless you’ve had a bombshell in investigating your familial health, you’ll likely need to do nothing except keep the information on file and bring it along to any doctor’s appointments you have coming up. And don’t forget to share your findings with your family. Your sister may have thought you were nuts to ask if Grandma’s diabetes was early or late onset, but she’ll thank you later if it turns out to be a factor that affects her. Until the information you learn becomes an issue, your best bet is to keep the information in your back pocket, educate yourself on any conditions that you may have learned about, and make any lifestyle changes that can keep your chances at getting sick too. That can include keeping up with regular screenings such as blood tests, mammograms, yearly checkups, or colonoscopies, and staying healthy by eating well and exercising.

If you did happen to have a bombshell, say by finding out that your grandmother had ovarian cancer early in life or that your mother had three miscarriages that you never knew about, it might be time to make an appointment with a genetic counselor. A genetic counselor can help you decide whether you need genetic testing, find a specialist to help with your condition, and help you manage your illness if you indeed have what you suspect. You can find a counselor near you through the National Society of Genetic Counselors at nsgc.org.

For Michelle’s family, the news of her kids (and likely her husband, he hasn’t been tested yet) having FVL was concerning at first, but she’s glad they know and are tackling the prognosis one step at a time. Recently Taylor, her oldest, had a consultation to get her wisdom teeth out. “We told the doctor and he recommended we check with our hematologist first to see if there were any precautions needed,” she says. “But her hematologist actually wanted the blood to clot in her mouth, and since it wasn’t a major surgery, no precautions were needed.” It’s reassuring, she says, to have that backup, and to know that they have a specialist who understands the condition best.

Consider seeing a genetic counselor if your family has had:

Cancer before age 50 for a predisposition
Someone who’s had more than three miscarriages
Anyone with skeletal abnormalities—you’ll want to see a geneticist before getting pregnant

—Ann Levelle

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