It was a Facebook post that caught Angela’s attention*. The 36-year-old man thought about genetic testing years — since her sister was diagnosed with breast cancer and tested positive for the BRCA1 gene mutation more than a decade earlier.
Her sister encouraged the family to get tested – BRCA1 and BRCA2 Mutations can greatly increase your risk of breast and ovarian cancer – but Angela doesn’t feel ready yet. She was dealing with worry and obsessive-compulsive disorder (OCD), and she wondered how she would feel about the outcome or whether having the gene would affect her decision to have children.
Then, last summer, the mother-of-two has now seen a friend’s Facebook post aboutONE home genetic testing program offers testing for more than 60 genetic markers for cancer, including BRCA. Do it at home – you basically use their “spit kit” and mail your sample – Angela feels less intimidating than coming in person, so she decides try.
About three weeks later, Angela got the results: she had the BRCA1 gene. Although devastated, talking to the company’s genetic counselor about her options helped her feel less overwhelmed. After talking with a gynecological surgeon, she decided to have a total hysterectomy (removal of the uterus and ovaries) to reduce the risk of uterine and ovarian cancer. Before that, however, another doctor on her care team wanted her to have a mammogram and an ultrasound of the breast – both of which were clear-cut.
But because of her genetic predisposition, her doctor took an extra step: magnetic resonance imaging. Then they discovered a small mass, which later biopsies showed to be stage 1 breast cancer.
Within a few short months, Angela was offered a hysterectomy and a double mastectomy. Now that there is no more cancer, she will start taking medicine tamoxifen to reduce the risk of the cancer coming back.
“They saved my life,” Angela said of the genetic testing company. Without it, she doesn’t know how long it would take before her cancer was discovered. “Because I have this gene, [the doctors then] gave me an MRI,” she said. “It gave them the motivation to go further, work harder and that’s when they found it [the cancer].”
How do your genes affect your health?
“There are changes in the sequence of your DNA or genes that make you more likely to develop a particular condition,” explains Elizabeth Jordan, MS, LGC, a licensed genetic counselor and associate professor of internal medicine at Ohio State University School of Medicine. When this happens, this is called a genetic predisposition.
Experts have identify many genetic conditions — from cystic fibrosis to sickle cell disease to cancer. For example, some of these are caused by a single gene while others are caused by multiple genetic mutations that together increase your risk, says Jordan.
What genetic conditions should you know about?
Jordan points out three points of particular concern: familial hypercholesterolemia (the official term for inherited high cholesterol), hereditary breast and ovarian cancer (HBOC), and familial hypercholesterolemia. hereditary non-polyposis colorectal cancercall Lynch syndrome.
The Centers for Disease Control and Prevention (CDC) lists these grade 1 means there is evidence that understanding your risks and taking action can be helpful. “Basically, these are high-frequency conditions in the general population that not only women but everyone should be aware of,” says Jordan.
Let’s take a closer look:
Hereditary high cholesterol: About 1 out of 250 People have this common condition. “If your LDL, or bad cholesterol, is around 190 milligrams per deciliter, it’s often a concern that this is actually driven by genes rather than by poor eating habits,” says Jordan.
Hereditary breast and ovarian cancer: Between 5 and 10 out of 100 cases of breast cancer are hereditary, and 10 to 15 cases of ovarian cancer are hereditary. hereditary. The most common genes implicated in these inherited cancers are BRCA1 and BRCA2. Having either gene mutation does not mean that you will definitely get breast cancer, but women with a BRCA1 or BRCA2 gene mutation have a higher risk of developing breast cancer at age 80 than women without.
Lynch syndrome: This genetic condition may increase the likelihood of developing colorectal cancer and several other cancers, including endometrial, stomach, and uterine cancers. Lynch syndrome is estimated to be the cause of 3% to 5% of colorectal cancer cases and 2% to 3% of cases. endometrial canceraccording to the American Society of Clinical Oncology.
With all of these diseases, certain symptoms, family history, and age at diagnosis — for example, if you’re under 45 and diagnosed with breast cancer — can tell your doctor (and you) know if genetics can cause the disease.
Knowing this information can be helpful from both a prevention standpoint, such as how Angela had a hysterectomy and treatment options. For example, if you know you have a family history of high cholesterol, you’ll know to ask your health care provider about medications that are right for your condition. “I’m delighted to finally be in an age where we have cholesterol-controlling drugs designed specifically for people with genetically high cholesterol,” Jordan said.
What about mental health?
Research shows that some mental health conditions can also have an impact genetic component. For example, in a 2022 study Published in the journal Nature, the researchers were able to identify several genes that may be involved in schizophrenia.
Jordan said conditions like schizophrenia, depression, anxiety and bipolar disorder are considered complex, meaning that both genes and environmental factors tend to impact those who develop they. While some genetic testing still exists, a genetic counselor can look at things like family history, age when symptoms started, and evaluation options to determine whether testing should be done. whether it is useful or not.
Understanding genetic testing
Depending on your circumstances – say, if your family history has alarming signs, such as both your mother and grandmother having ovarian cancer – your doctor may recommend genetic testing. transmission. (Prenatal genetic counseling and testing is also an option for parents-to-be.)
First, a genetic counselor will perform a genetic risk assessment that looks at things like family history, usually going back three generations, Jordan said. “If you meet the right criteria and if there are risk factors, then genetic testing will be done favorably,” she said.
Experiment – blood or saliva test — usually occurs as a follow-up and in a clinical setting, although there are also home tests. Some at-home options are through a clinical laboratory with medical supervision and a genetic counselor ready to interpret the results.
Others are called direct-to-consumer (DTC) genetic testing (think: 23andMe and AncestryDNA). These types of tests can’t provide as much detail as a clinical trial, but can give you some basic insight and can provide interesting information like whether you prefer chocolate or vanilla. or not. While these at-home tests can be fun, they shouldn’t be a substitute for getting professional genetic counseling if you suspect a genetic disease.
But no matter what type of test you have, it’s important to talk to a genetic counselor about your results – even if you test negative for genetic markers. Sometimes, your family history alone is enough to suggest continued follow-up.
There are also online tools including OSU Family Health Calculatorcalculate your risk for various genetic conditions based on your family history.
And that could be a good way to start. “Purpose [with the Calculator] is you have something that you can print or download and give to your doctor to start a conversation,” Jordan said.
Work with your genetic test results
Here’s the problem with genetic testing: It’s important to remember that the results can have a real impact on your life.
“There are some people who are not there yet,” Jordan said. “They don’t feel empowered to have this information, but may feel a little bit more serious about it.” And that’s not always a sane approach. “If it reduces the preventive action you can take, then it’s probably not the best fit,” she said.
if you To be If you are ready and the results show that you have a certain genetic predisposition, there are positives – namely, possible treatment and prevention pathways you can take.
And while we have no control over the genes we inherit, there are some things we can control including diet, exercise, making healthy choices, quitting smoking and preventive care such as cholesterol tests, mammograms, and colonoscopy.
“Those are all things within our control that we can use to modify what our genetic predisposition makes us more inclined to develop,” says Jordan. “My point has always been, knowledge is power.”
*Names are used for privacy only
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