Transcript
Episode 0: Living at Risk with Susanna Smith, MPH
Origin Story
Susanna Smith: Hi everyone. This is Genetic Frontiers. A podcast about the promise, power and perils of genetic information find us wherever podcasts are found and go to geneticfrontiers.org to join the conversation about how genetic discoveries are propelling new personalized medical treatments, but also posing ethical dilemmas and emotional quandaries. I'm your host, Susanna Smith.
Today we’re launching season one of Genetic Frontiers. Throughout the season, I will speak with guest experts who will help me explore the real-life implications of the burgeoning science of genomic and genetic medicine.
Today, I’d like to start with my personal story, which is part of the impetus for this podcast and at the center of a book I’m working on. Some people who hear my story may understand it as a story about a rare disease and an unlucky family. Perhaps we are. I see the story I am living as an edge case, a problem at the extremes that can be difficult to solve but illuminates weaknesses in our healthcare system and our laws and points to how incomplete our current understanding of genetics is and how little attention we’ve given to the implications of decoding our DNA.
Long before I became conscious of my own genetic risks, I gravitated towards the worlds of science and medicine. I majored in biochemistry in college, worked in a lab through school, and went on to study medical ethics and public health. From what I learned in college, genetic disease seemed rare, wrenching illnesses like Tay Sachs, metabolic disorders, and hemophilia that haunted insular communities like the Amish, the Mennonites, and early European royals. Never once did I think of myself or my family as at risk for developing a genetic illness. I understood genetic disease as the unlikely and unlucky plight of “others,” which reflects the path researchers took in identifying and studying hereditary illness.
In 2008, my mother had a massive stroke. She was diagnosed months later with cerebral autosomal dominant arteriopathy with subcortical infarcts or CADASIL. CADASIL is an inherited genetic condition that causes mood disorders, migraines, strokes, dementia, and death. There is no known treatment or cure for the disease.
My risk for developing CADASIL is 50 percent.
Soon after my mother’s diagnosis, my parents and my siblings met with a geneticist at an office in Chapel Hill, North Carolina. I joined from my office in Manhattan on speakerphone. I rested my elbow on the desk, one cheek against my fist, listening to a conversation happening five hundred miles away. The geneticist began the meeting by talking about the diagnosis. He explained the clinical symptoms of CADASIL and its prognosis.
“Each person with CADASIL has a fifty-fifty chance of passing the damaged gene on to any child,” he said. “A person who inherits the affected gene will eventually develop the disease with symptoms typically showing between age thirty-five and fifty-five, but it can be earlier.
I was twenty-right at the time.
The geneticist asked my mother about her family. She went back and forth, discussing her father’s death from a stroke at sixty-two and her mother’s death from cancer, naming her siblings, nieces, and nephews. As she talked, I made tally marks on a yellow legal pad. When my mother had finished, I’d counted twenty-six people, myself included, who we now knew were at risk of having CADASIL. The geneticist moved on to the subject of testing, addressing me and my siblings.
“One of the questions that the four of you and many people in the family will ask is ‘Should I should get tested?’”
My heart quickened with the mention of the possibility of learning my disease status. I wanted to hang up the phone, climb into bed, and never get out.
“But I’m not here to give you an answer,” he continued. “That’s a deeply personal choice.”
My breath released as a sharp hiss.
“But I want to talk to you about some of the ramifications of testing and some precautions we recommend you take before starting down that path.”
The geneticist explained the status of the Genetic Information Nondiscrimination Act (GINA), a bill that had recently been passed in the US Senate and was expected to pass in the House. GINA would prohibit health insurance companies from using genetic information to deny coverage or raise premiums and would outlaw genetic discrimination by employers.
“There are things GINA won’t offer,” he said. “It’s important you understand this. The discrimination protections in GINA don’t apply to life insurance, long-term care insurance, or disability. These types of insurance can be very important with a disease like CADASIL, which can significantly shorten life expectancy and result in many years of dependent care.”
Pressure mounted in my chest.
“One of the things we recommend is applying for these forms of insurance before you get tested. You can always cancel them if you test negative, but if you’re positive, you’d likely be ineligible later.”
Cradling the phone between my shoulder and ear, I pictured my siblings sitting in the office with my parents. My brother’s head was bent, his dark brow furrowed. My middle sister, who chattered when she was nervous, hadn’t said a word. My youngest sister’s face was drawn and tense, the teenage roundness in her cheeks thinner since our mother had been sick. I wondered if they felt as overwhelmed as I did.
Soon after, I visited my primary care physician in New York, seeking advice on how to reduce my risk of having a stroke. A lanky man in his early forties, my PCP seemed unhurried at our appointments and looked me in the eye when we spoke. He studied the print-out I handed him the CADASIL test results for a long moment.
“This must’ve been very difficult news for your family,” he said. “I don’t think there’s any benefit to putting these results in your chart. We’re going to keep this conversation between us.”
Hearing those words, the seriousness of the situation zoomed into focus for me. I trusted this doctor; he had my best interests at heart. And like the geneticist, he agreed that I had something to hide.
Now some might question my doctor’s approach, his willingness to keep information off the record. I’m grateful that he had the foresight to realize how potentially damaging my mother’s test results could be for me.
For many years now, I’ve lived at risk, in a state of being that I’ve learned has a particular name. I am what’s called a previvor or person living at a heightened risk for developing a particular health condition, in my case, an incurable neurological disease.
Living as a previvor can be anxiety-provoking and fear-inducing and takes up emotional space in my life in real and practical ways like when I sat down with an old friend for beers and asked, “How do I tell this person I’m dating about my genetic risk? Is three dates too soon? Is six months too late? What do I even say?”
Or when I began to ask myself if I wanted to have kids? If so, what would that look like?
Over the years, I’ve struggled with how best to navigate the world—my relationships, professional pursuits, creative work, or my choices about family, finances, or insurance—knowing this information about my genetic risk. The risk I live with is not exceptional. It is emblematic of the future. As science advances, more and more people will be offered genetic information that is predictive of the trajectory of their lives, their health, and their deaths.
To be sure, my risk of developing CADASIL is not the same as another person’s unknown risk for developing a disease in the future. But unknown does not mean unknowable. A recent study found that as many as 21 percent of adults may carry a genetic mutation that is highly predictive of disease. One in five people may not seem high but that’s based on what was known five years ago. New associations between particular genetic variants and disease are discovered every week. As we learn more about our genes, we will also find that many more people than we realize are at risk of developing genetic disease.
Many of us have already participated in direct-to-consumer genetic testing or clinical genetic testing. The genetic information we are collecting about ourselves—and that researchers, healthcare systems, companies, and governments are collecting about us—has many uses and implications: financial, psychological, clinical, reproductive, and investigative.
I started this podcast, Genetic Frontiers, to create a space for a more expansive cultural conversation about the promise, power, and perils of genetic information.
I bring in my background in science and ethics as well as my perspective as a person living at risk to our discussions with guest experts about this moment we’re all living in, where the science of genetics and genomics changes by the day and the practice of medicine is evolving rapidly. In many ways, we are wildly unprepared for how genetic information can influence our lives.
Thank you for joining me today to kick off Season One of Genetic Frontiers. If you’d like to hear from us when we drop a new episode, please subscribe on our website GeneticFrontiers.org or hit the follow button on your favorite podcast listening app.
Stay tuned now for Episode One of Genetic Frontiers, Finding Meaning in Life and Genetics with Nerine Gregersen, a former practicing physician, who specialized in pediatrics and clinical genetics, who is also a practitioner of logotherapy, mind-body medicine, and yoga.
Parts of today’s episode were previously published by Health Affairs on the Narrative Matters podcast, in an episode called “Keeping Quiet About Genetic Risk,” which is linked to in our show notes.
Genetic Frontiers is co-produced by Brandy Mello and by me: Susanna Smith. Music is by Edward Giordano and design by Abhinav Chauhan and Julie Weinstein. Thank you for listening to this episode of Genetic Frontiers connect with us at geneticfrontiers.org or on Instagram and Linkedin at Genetic Frontiers, to continue the conversation. If you enjoyed this episode and would like to support our independent production. Please make a donation to Genetic Frontiers through our Patreon account.