Burden or Blessing?
The dilemma of genetic testing
By Leslie Martini
While in the waiting area for a mammogram a few weeks ago, I was surrounded by women of all ages who were there for the same reason: to have their breasts smashed and squished into unimaginable ways for the purpose of detecting abnormalities. Dressed in front-opening, ill-fitting blue gowns, each of us poured the most intimate details of our personal histories onto our own individual computer pads. There were no empty seats, and soon enough quiet chatter about the insufferable heat turned into an open conversation about the many faces of cancer. When the subject of genetic testing came up, a few women had stories of their own.
Jean, an 81-year-old woman seated across from me, lost both her mother and sister to breast cancer. Jean has had her yearly mammograms, but decided against the genetic testing for breast cancer because of her age. Instead, she had her two grown daughters tested, and both, it turns out, tested positive for the inherited breast cancer gene, BRCA. “They had to make some tough decisions, but given our family history and the statistics, they both decided on double mastectomies. I was proud of them. They want to be able to live long enough to enjoy their children and grandchildren. We felt lucky they had the option. They didn’t want to spend their lives living in fear. None of us are afraid of dying anymore.”
“I know there’s a battery of tests, but I haven’t done it yet. What would I do with those results?”
Seated next to her was Nancy, a woman who appeared to be in her mid-fifties. She spoke of her sister-in-law also choosing to have a double mastectomy after she tested positive for the inherited gene mutation– she was just 37-years-old, and a young mother to a three-month-old baby. Her decision wasn’t easy, but eventually it allowed her to live in the now, enjoy her baby, and not worry that she might spend her later years fighting cancer, Nancy said of her friend. While breast cancer doesn’t run in Nancy’s family, Alzheimer’s does.
“I know there’s a battery of tests, but I haven’t done it yet. What would I do with those results? It’s not like it will help me feel better about the future. I don’t want to add ‘worry’ to my bucket list!”
The question is how might we live our lives differently if we knew we carried a gene that could change our destiny?
Never before have we had the ability to access information as it relates to our own personal health. Ongoing medical advances in the field of genetics have given patients what seems like a crystal ball–the ability to see into the future and then make bold choices that could potentially change their destiny. Whether for newborn screening, diagnostic screening, or predictive and pre-symptomatic disorders such as breast cancer, ovarian cancer, or Parkinson’s, there are multiple reasons why more and more people are relying upon genetic testing in hopes of rewriting their next chapters. The question is how might we live our lives differently if we knew we carried a gene that could change our destiny?
The American Cancer Society released staggering statistics earlier this year stating that a total of 1,735,350 new cancer cases and 609,640 deaths from cancer are projected to occur in the US in 2018.* The good news is that these figures suggest that the rate of cancer is actually on the decline. There is much speculation as to why these numbers are declining, but healthier lifestyles, prevention and early detection undoubtedly play a role. If early detection plays a role, it seems to follow that genetic testing could only aid in that process. And not only for cancer, but for the many inherited diseases that threaten our livelihood. There are more than 2,000 types of genetic tests available—the results are used to help patients make informed decisions about their futures.
The hesitation that Nancy expressed, as it relates to testing for Alzheimer’s, is not uncommon. Having a confirmation for a disease–a disease for which there is no cure, for some, feels like a disservice. Nancy is someone who embraces life to the fullest and a genetic test, in her eyes, wouldn’t help her to live out her future in a better way.
While Alzheimer’s is currently incurable, it’s not untreatable. Dr. Doraiswamy, author of The Alzheimer’s Action Plan, says that a diagnosis is vital to insuring patients receive the best care.
“In addition to specific strategies for improving brain health and overall wellbeing, there are currently four FDA-approved medications available for treating symptoms and many others in clinical trials.”
Doraiswamy’s plan is intended to not only improve the quality of life, but potentially extend the lives of those living with Alzheimer’s.
As difficult as it is, there are good reasons for people to know what they are facing and how much time they have.
In addition to newborn screening, most commonly, genetic testing is used to find out if patients have a specific hereditary disease. In theory, if the tests are positive, the idea is to devise an action plan based upon the prognosis—a plan to rid the body of the disease. This is most often the case with the inherited gene for breast cancer. But with Alzheimer’s and many other genetic diseases like Parkinson’s, Huntington’s, and Fragile X Syndrome, there is no direct path to a cure. In these cases, genetic testing can be useful in arming patients with the tools they need for making important and timely decisions about the best ways to enhance their lives presently, and in some cases, to begin preparing for the eventuality of death. As difficult as it is, there are good reasons for people to know what they are facing and how much time they have. Time is needed for getting legal matters and finances in order, assessing insurance options, taking time to accept and become comfortable with the notion of mortality, and for talking with family and loved ones to help ease their own anxiety.
A drawback to genetic testing for many is the cost. A genetic test for breast cancer, for example, a blood test that uses DNA analysis to identify harmful changes in either one of the two breast cancer susceptibility genes, BRCA1 and BRCA2–is roughly $3,000. Actress Angelina Jolie famously wrote in an op-ed to the New York Times that genetic testing revealed she carried the BRCA1 mutation, and that she had an 87 percent risk of breast cancer. People naturally weighed in on her decision to have a double mastectomy. She was chastised as an elitist by many who argued that the general population is in an income bracket that may preclude them from not just the testing, but the reconstructive surgery that followed. She explained her reasoning the following way:
“My mother fought cancer for almost a decade and died at 56. She held out long enough to meet the first of her grandchildren and to hold them in her arms. But my other children will never have the chance to know her and experience how loving and gracious she was.
Jolie also mentioned is that the choice isn’t for everyone. She made the choice that was best for her, based on the information available to her. She urged others to be informed about their own healthcare and decision making, and reiterated that hers was a decision about her personal quality of life and about her future.
Since that time, much has been written about the benefits of genetic testing, along with more affordable options. For less than $100, at home direct-to-consumer genetic tests performed by companies like CRI Genetics or Living DNA will ascertain whether a person has a genetic risk for seven diseases including Alzheimer’s, coronary artery disease, cystic fibrosis and type 2 diabetes. The drawback, in addition to the question of accuracy, is whether the consumer has the ability to understand the genetic information without the assistance of a genetic counselor.
What seems clear is the question of whether to know or not to know is a very personal one. The answer may come in asking this follow up question:
Does knowing that you have a genetic predisposition for a disease mean that you are more likely to embrace your own mortality? If knowing helps us to make more informed decisions, and gives us the tools to help us live longer and more fulfilling lives, then why not know? Perhaps then we can focus on embracing the time we have, and like Jean, not live in fear of dying.
About the Writer
Leslie Martini is a children’s book author and freelance journalist. Leslie works and writes for Fraxa Research Foundation, a non-profit dedicated to finding effective treatments and ultimately a cure for Fragile X Syndrome.
76Don’t Forget, You’re Going To Die Hansa Bergwall, creator of the app, WeCroak
25Let’s Talk About Death, Baby Meet some of the leaders of the growing "Death Positivity" movement
216Fido’s Resting Place How to make final arrangements for your dog
41Time To Talk Kate DeBartolo, Director of The Conversation Project
Subscribe to our e-newsletter, Bucketcetera and get regular updates on new articles and features.
- Living Fully
- Dying Well
- Money & Law