by Lily Henson
One spring afternoon when I was in sixth grade, I was sitting in my mother’s Honda Civic in the parking lot of Green Planet Grocery. She was loading brown paper bags filled with kale and organic rice crackers into the back seat. She was talking about the pizza she was going to make for dinner, and that we had to remember to fill out the information for my school fundraiser. The sun was shining, and it was one of the first warm days of the season. My mom answered her phone while I sat in the front seat. I was half listening to her conversation, more focused on trying to fish out the candy bar I had convinced her to buy from one of the many bags.
Suddenly, my mother stopped talking, and the bag she had lifted from the cart fell to the ground. Bright red tomatoes rolled underneath the car.
My mom didn’t say a word the whole ride home. Her crystal blue eyes seemed darker, and she kept running her fingers through her freshly dyed brown hair. Her pale hands looked even whiter as she gripped the steering wheel. When we got home, I helped her carry the groceries inside. She was trying to pretend to be happy, but it wasn’t working. I could tell that something was wrong.
A few hours later, my mom called me to the dinner table. We usually ate dinner in front of the TV. Her eyebrows were furrowed and her sweater appeared to engulf her. She seemed afraid.
“Listen,” she said then. “Grandma is sick. She has cancer, and it doesn’t look good.”
My grandma was sixty-five years old at the time. She has always been a small woman, but her presence has always been huge. She almost perfectly embodies the stereotypical Italian grandmother. On any given night, she can be found in her kitchen, blasting Elvis Presley music while pasta sauce simmers on the stove top. After her diagnosis, my grandmother decided to get a mastectomy and a hysterectomy. Now, her cancer is in remission, and she is doing as well as ever, teaching Italian cooking classes on the weekdays and going on meditation retreats to Florida on the weekends. However, the time that she was sick still resonates strongly with my family. While my grandmother is immensely thankful for her surgeons, oncologists, and primary care physicians, she says that the one medical professional who helped her the most during this time was her genetic counselor.
According to the Bureau of Labor Statistics, a genetic counselor assesses “individual or family risk for a variety of inherited conditions, such as genetic disorders and birth defects.” These medical professionals help people who have family histories of diseases, who have high risk pregnancies, need help diagnosing diseases or disorders, or who are curious about illnesses they may be likely to develop in the future. They conduct genetic testing, and help people understand what the results mean for them.
My grandmother was initially led to a geneticist after learning that she had the BRCA2 gene, a mutation meaning that she was at a higher risk of developing breast or ovarian cancer than someone without the mutation. My grandmother was confused about how she developed this disease; she’d believed the myth that one inherits the genes for breast cancer from their mother. No one in her mother’s family had been diagnosed with cancer, though two of her cousins on her dad’s side of the family had died from the disease. However, she thought that she was safe from it. She got annual mammograms but never felt like breast cancer was something that she would have to worry about. After learning that she potentially could have passed the gene to her family members, however, she was eager to see a genetic counselor.
For my grandmother, genetic counseling was something she wanted to pursue so that she had a way to help her family be prepared for the future. “I have three daughters and five grandchildren,” she said. “I want to make sure that everyone has all the information they need about this disease, so that they can take preventative measures. It could save their lives, if they catch it early.” My grandma had disks made with the results of her testing, and gave them to each of her daughters, in hopes that they also would get tested.
Neither my mother, nor any of her sisters, decided to get tested for the BRCA2 gene. All of them came to the same consensus: they just didn’t want to know. My mother says, “Even if I did get tested, and I found out that I had it, I wouldn’t change anything. I wouldn’t decide to get surgery or anything. The only thing that would change is that I would live in fear. I take good care of my health, I have always been good about getting mammograms, and I now get MRIs done as well, as an added precaution.” Personally, I agree with my mother on this matter, and will not pursue any testing to learn if I have the BRCA2 gene.
In 2014, my mother’s close friend and fellow graphic designer, DeAnna Hine, gave birth to Avery, a beautiful little girl with blonde curls. Shortly after her birth, however, things began to go awry. She had low set ears, a high patella (kneecap), myopia, and low muscle tone. No one was exactly sure what the diagnosis might be; genetic counseling was recommended to DeAnna and her husband, Dave. When she was a few months old, Avery was hospitalized with parainfluenza, and the pediatrician on duty was able to get her a consultation with the genetic doctor on call.
Avery, now four and a half, still makes frequent visits to this genetic counselor. She is extremely delayed developmentally. She does not speak, has poor vision, and cannot walk. However, even with genetic counseling, DeAnna and Dave have been unable to get any answers regarding what causes these issues for Avery.
Dave said, “The doctors have no idea what is causing this. They have never seen anything like it, and there aren’t any genetic indicators about what is causing it.”
“It’s frustrating,” DeAnna said. “I want answers so that I can help her, and so that I can know what will be the best choices to make for her.”
Avery is enrolled in a school in Syracuse, New York, where a team of people help to make sure that she is getting the best care possible. DeAnna and Dave still hope that the doctors will make progress in establishing a diagnosis for Avery.
Although the Hines weren’t able to get answers about Avery’s condition through genetic counseling, they are still happy that they pursued it. “The doctors also recommended that Dave and I got tested,” DeAnna explained, “so we were able to find out if there was anything in our genes that would raise concerns if we chose to have more kids.” Their testing results were normal. Last January, Dave and DeAnna had another baby, Adam. Adam is developing normally and has shown no signs of health problems.
As an industry, genetic counseling is on the rise. The Bureau of Labor Statistics reports that in the next ten years, employment of genetic counselors is estimated to rise twenty nine percent, much faster than the average for all occupations, and technological innovation now allows counselors to conduct more types of analysis. According to the United States Department of Labor, “Cancer genomics, for example, can determine a patient’s risk for specific types of cancer.” Additionally, as genetic testing is becoming more prevalent, it is also being covered by more health insurance providers, making it more accessible to people.
One genetic counselor, Jennifer Facher, explains that she became interested in the field after her eleventh-grade biology teacher invited a geneticist to speak to their class. After learning about this field, Facher spent hours researching in her school library. She knew then that she wanted to be a genetic counselor one day. When asked to describe a typical day at work, Facher, a pediatric genetic counselor at the University Hospital of Cleveland, says that, “On a clinic day, I am usually scheduled to see about six or seven patients. I begin by allowing a family to explain what they hope to gain from our visit and what they have discussed with their doctors. From this meeting, I learn the extent to which the family understands their child’s disease.” Facher then takes medical, developmental, and family histories. All of this information is then passed on to a geneticist, who performs a physical exam and determines what testing will be necessary. Facher is then responsible for facilitating any necessary testing, taking any necessary samples and assisting in the interpretation of the results.
Another genetic counselor, Jaclyn Haven, sees adult and pediatric patients for various conditions at Shodair Hospital’s outreach clinics. Haven has a special interest in cancer genomics, and also sees clients at the Helena Cancer Genetics specialty clinic. Through the Shodair clinic, she is able to take her services all over the state of Montana. In a TED Talk, entitled What is Genetic Counseling?, Haven asks, “Have you ever held a phone to your ear and paused to hit the last number, knowing that the person on the other end of the call will hear news that will change their life forever?” Haven explains that as a genetic counselor, these are not uncommon situations for her.
Clearly emotions can run high for many genetic counselors. They are often the bearers of bad news. Facher confirms that it can be difficult to give her patients news that they don’t want to hear, but she tries to remind herself that she is helping them by making them aware of their situation. Facher explains, “After they meet with the geneticist, I have to sit down and explain to the families what the diagnosis means to the affected individual, what their options are, what risks there may be.”
Some, like Dave and DeAnna Hine, are desperate for the results of genetic tests. For others, like my mother, the results of genetic tests may be more frightening than the uncertainty of not knowing. As genetic counseling is becoming more widespread, some are beginning to question the benefits to the general public. Natasha Singer, a writer for the New York Times, explains that some companies, particularly those on the West Coast that are “vying for talent,” have begun offering free genetic screening as a benefit. When it is offered, employees often jump at the opportunity to get results. However, if a person is considered to be of average risk, meaning they have no strong family history for developing a disease, a screening may not be that useful, and could cause unnecessary stress. After consulting experts in the field of genetics, Singer explains that, “A person without a family history of cancer may have the same problematic mutations as high-risk patients, they said, but could have lower risk of developing cancer. Aside from the possibility of creating unnecessary stress for someone being tested, there are even greater risks associated with making genetic screening available to the public. Singer says that it is common for someone to forgo recommended screenings such as mammograms and colonoscopies. Additionally, it could lead people to undergo unnecessary medical procedures, such as mastectomies.
Ultimately, genetic counseling offers individuals a chance to learn somethingabout what the future may have in store for them. However, as genetic counseling is becoming more advanced and more accessible, is it possible that the results of testing can do more harm than good?