Once a year, Jessi Keavney goes to see her neurologist. During the visit, the doctor asks if she has developed any new symptoms and then performs a detailed physical exam. He observes the speed and amplitude of her hand and foot movements, and then assesses her ability to stand from a seated position. While she walks, the doctor evaluates her arm swing, the length of her stride, and her posture.
Altogether, this choreography represents a standardized appraisal of the motor symptoms of Parkinson’s disease. But Keavney does not have Parkinson’s, or any other neurological illness.
At least, not yet.
What she does have is a genetic mutation that puts her at an increased risk of developing Parkinson’s, which she discovered through 23andMe testing in 2013. Since then, Keavney has become an indomitable advocate for the Parkinson’s at-risk community, traveling across the country to speak at conferences and participate in research. Her regular visits to the neurologist allow her to be evaluated for signs of the disease, while keeping her abreast of preventative strategies and treatments.
All of this makes good sense. If someone told me that I had a significant likelihood of developing a serious, progressive, uncurable neurodegenerative illness, I would probably want to see a doctor, too. But, as anyone who has actually tried to schedule such an appointment already knows, getting in to see a physician, particularly a specialist, can take months. Many doctor’s offices have active waitlists and are inundated with calls from would-be patients, eager for the symptoms from which they are already suffering to be evaluated and addressed.
Alzheimer’s and Parkinson’s are the two most common neurodegenerative diseases in the world, and seeking out medical care if you’re at risk for either one is not wrong. On the contrary, Keavney and those in other at-risk groups should be able to receive guidance on optimizing their well-being from an expert who takes their predispositions into account. Afterall, there is evidence to suggest that certain lifestyle changes may decrease the risk of dementia, and, for Parkinson’s disease, it is well-established that the right kind of exercise can slow progression.
Plus, the treatment landscape is changing rapidly, as is the definition of “disease.” Drugs that promise to decrease the rate at which Alzheimer’s advances are already available (though their virtues are still being debated), and researchers have recently proposed that the stages of Alzheimer’s and Parkinson’s be reclassified based on the presence or absence of biological markers (which at-risk individuals might already have) rather than based on symptoms.
Still, as a neurologist, I often wonder how my own patients would react if they knew that someone for whom disease was not an active reality but a future potentiality had secured a consultation before them.
In the past, those with the ability to predict their neurodegenerative health outcomes with any degree of certainty were part of a fairly small group. A strong family history of an illness might forewarn a set of siblings or, more recently, a disease risk might be identified by commercial or pre-conception genetic testing.
But all of this is changing, and quickly.
Genetic testing is now widely available and, in some cases, mutations previously thought to confer an increased risk of disease have been recategorized as messengers of near inevitability, thus eliciting increased anxiety among carriers. At the same time, research — particularly in the realm of neurodegenerative diseases — has begun to identify abnormal molecules, known as biomarkers, that may start to accumulate more than a decade before the signs of disease become outwardly apparent. While guidelines do not currently advise testing for these markers in those without any symptoms, it is unlikely that companies and consumers will heed these recommendations.
Furthermore, in recent years there has been a strong push for scientists who conduct human subjects research to share study results with participants — including participants without any current indication of illness. This means that healthy people who have taken part in certain studies for Alzheimer’s or Parkinson’s can now find out whether they harbor disease-related proteins, genes, or changes on imaging, with relative ease.
Apprising study participants of what science has uncovered within their own bodies is not, on its face, a bad thing (assuming appropriate explanations and counseling are provided). But, altogether, the above developments are poised to deliver a myriad of at-risk individuals, each with no prior personal history of the disease in question, onto the doorsteps of doctors who are already scarce and overburdened.
In 2021, approximately 117,000 physicians left the work force and, earlier this year, the Association of American Medical Colleges released a report predicting that, over the next decade, shortages will continue to increase, resulting in a deficit of up to 86,000 doctors by the year 2036. Wait times to see a neurologist may already be longer than those for other specialties and by 2025 a pre-existing, national neurologist shortfall is expected to increase by 19%.
These projections take our aging population into account, but not the increased demand for care that is sure to be precipitated by a sudden influx of younger individuals who share a silent risk of eventually developing a neurodegenerative illness.
Like Keavney, many who learn of their risk will seek advice on diet, exercise, supplements, and clinical trials. Some will want regular examinations to monitor for disease onset, which might qualify them for new research studies and treatments.
In tacit acknowledgement of this situation, neurological care centers that focus on these vulnerable groups are popping up around the country, such as the Alzheimer’s Prevention Clinic at Weill Cornell, the Memory & Healthy Aging Program at Cedars-Sinai, and the Women’s Alzheimer’s Movement Prevention & Research Center at Cleveland Clinic Nevada. But insurance plans don’t always provide significant coverage for preventative health care, rendering some of the tests and services recommended by these clinics out of reach for many.
A further inequality is related to the demographics of research study enrollment. Women and underrepresented groups are less likely to participate in clinical trials and, therefore, are less likely to receive clinical trial results — including those results that might alert them to an increased risk of disease, thus further propagating a significant health care disparity.
Supporting at-risk individuals without diverting resources from symptomatic patients will require the design and implementation of innovative health care delivery methods. For example, in recent years, group medical visits have begun to gain traction as opportunities for physicians to provide high value health counseling without the severe time constraints of standard patient appointments.
The group visit model would allow care teams to offer up-to-date lifestyle and treatment recommendations — those most likely to slow or prevent the progression of illness — without drastically extending wait times, for the sick or at-risk, to see a doctor. If anonymity were a concern, web conferences could take the place of in-person gatherings, with participants remaining unnamed and off camera. And, in both cases, these groups could be led by advanced practice providers, who generally have much greater availability than their physician colleagues.
Telemedicine might also help to fill the current gap in available resources for the at-risk. Health care startups such as Neura Health and Synapticure currently offer exclusively virtual appointments for a wide range of active neurological conditions. Making preventive neurology part of telehealth offerings could alleviate some of the pressure on traditional clinics, ensuring easier access to expert guidance for those at risk without demoralizing wait times.
But, undoubtedly, the biggest boon to properly caring for at-risk communities will involve AI.
Alzheimer’s and Parkinson’s disease are not, in fact, uniform, cookie-cutter illnesses that affect every patient the same way. Rather, as scientists are now uncovering, those with distinct genetic predispositions, variable biological patterns and particular environmental exposures will go on to develop disease forms that are expressed, progress, and may respond to treatment in entirely different ways.
As more at-risk individuals are identified and tracked over time, machine learning will allow for large amounts of data (family histories, subtle signs, co-occurring illnesses, test results, and other factors) to be analyzed. With this in mind, one can envision a future in which at-risk individuals receive personalized recommendations for fending off disease onset with the push of a button, a process that doctors could, perhaps, oversee without having to sacrifice the care of those who have already developed a neurodegenerative disease.
We aren’t quite there yet, but we’re getting closer.
In the meantime, Keavney, who has relatives with Alzheimer’s and Parkinson’s on both sides of her family, plans to keep seeing her neurologist once a year.
“I may not be sick right now, but carrying this kind of risk can make you feel like you’ve been damned,” Keaveny says. “And I absolutely refuse to feel that way.”
Adina Wise is a neurologist and writer in New York City.