CSM Preview: Genomics and Precision Physical Therapy With Richard K. Shields and Eric D. Green
In his 2017 McMillan Lecture, "Turning Over the Hourglass," Richard K. Shields, PT, PhD, FAPTA, predicted that, as we learn more about the effects of exercise on genetic pathways that influence health, "precision physical therapy will emerge side by side with precision medicine." Genomic analysis, he said, is "laying the groundwork for physical therapists to dose movement in ways that we never considered possible."
Shields and colleague Eric D. Green, MD, PhD, will dive deeper into this topic at the upcoming APTA Combined Sections Meeting in January 2019. In "Personalized Physical Therapy: The Time Is Now," sponsored by APTA's Frontiers in Rehabilitation, Science, and Technology (FiRST) Council, the speakers will explore the implications of genomics for exercise science and performance and how knowledge of a gene's function could alter a patient's medical management and clinical outcomes.
The session will be moderated by FiRST Council co-chair Steven L. Wolf, PT, PhD, FAPTA, and was organized by Catherine Curtis, PT, EdD.
#PTTransforms spoke with Shields (RS) and Curtis (CC) to get some quick takes.
First, what is the FiRST Council?
CC: APTA's Board of Directors established the Frontiers in Rehabilitation Science and Technology (FiRST) Council to help prepare its members for innovative medical technologies and approaches to clinical care, such as sensing technologies and robotics, regenerative medicine, precision medicine, telehealth, and imaging. Any APTA member in good standing can join the FiRST Council. Non-PT or PTA individuals who are in related disciplines, such as bioengineering or genetics, are eligible to be "Council Partners."
What was the genesis for this session?
CC: Completion of the first reference sequence of the human genome in 2003 gave rise to a sea change in the biological and medical sciences. Francis Collins, director of the National Institutes of Health (NIH) and former director of the National Human Genome Research Institute (NHGRI), has said that virtually every human ailment, except some cases of trauma, is considered to have some genetic basis. Medicine is becoming more personalized, with a shift toward early risk identification and diagnosis, and targeted therapy. Physical therapists need to be aware of the effects of genetic variants on health and disease and be prepared to devise individualized lifestyle interventions for both prevention and wellness.
How close are we to understanding how to use a patient's genetic information to tailor their physical therapy treatment?
RS: Physical therapists and their patients already are armed with new knowledge about genomics and how a patient's genetic makeup may influence personal health and health care treatments. Many patients will bring their own genotype to the clinic, whether acquired through a medical center screening program or a private vendor. Research is providing clinicians with increasing information about the effects of genotypes on health conditions. For example, we know that the homozygous ACTN3 577X genotype has been consistently associated with delayed onset muscle soreness and muscle damage after eccentric exercise. Clearly, dosing eccentric exercise may vary based on whether an individual has this known allele.
While we must be careful not to overstate, we must be cognizant of the power of regular, repetitive movement (exercise) on the epigenome—the system that can promote healthy genes and repress damaged genes. Physical therapists must understand the power of their own prescriptions from a fundamental science perspective.
CC: While genetic testing for rare disorders is available, regular testing for common disease variants is not routinely performed in clinical practice. There are issues with screening accuracy and sensitivity, and even if variants are identified, their clinical significance is still unclear. As we learn more, testing for common disease variants will likely become more routine, and genetic information will be increasingly available in clinical settings. These are some of the topics Eric D. Green will cover in his presentation, as well as how the NIH All of Us Research Program seeks to extend precision medicine to all diseases by building a national research cohort of 1 million or more US participants. By taking into account individual differences in lifestyle, environment, and biology, researchers will uncover paths toward delivering precision medicine.
What are some opportunities and challenges regarding application of genomic research in practice?
RS: The key challenge is that public opinion may race ahead of scientific evidence. A great number of studies have found evidence for higher prevalence of certain genotypes in various populations. The public may infer causality where none exists, so physical therapists must be able to accurately interpret genomic information.
Physical therapists will have many opportunities to speak truthfully about the meaning of the genomics movement and continue to advance knowledge about the power of regular movement-based treatments. Accordingly, they should participate in educational programming that helps jump-start their knowledge of genomics and epigenetics.
CC: The Genomic Era is upon us, with advances relevant to health and wellness now emerging. The translation to clinical physical therapist practice is still very new, and the initial challenge for the profession is that all therapists must expand their knowledge in this area beginning with basic concepts and an awareness of the potential impact on the health and wellness of individuals. With this background, the opportunity for more and more research on direct application to practice will emerge.
What other physical therapy–related genomic research is on the horizon?
CC: Physical therapists—including members of the FiRST Council genomics group—are increasingly engaged in genetics-related research relevant to clinical practice. Steve Cramer, MD, and Steve Wolf, PT, PhD, FAPTA, are studying how brain-derived neurotrophic factor (BDNF) Val66Met genotype is associated with greater brain atrophy after stroke. Cameron Mang, PhD, MSc, and Laura Boyd, PT, PhD, are exploring how genetic influences underlying acute aerobic exercise affect motor learning. Allon Goldberg, PT, PhD, is researching how angiotensin I-converting enzyme gene (ACE) polymorphism affects grip-strength correlations with balance and walking speed in older adults. And Laura Case, PT, DPT, and colleagues are examining phenotypic traits of infants with Pompe disease identified by newborn screening.
RS: There are many studies examining the relationship between genetic markers and functional outcomes in people with Parkinson disease, total hip/knee replacement, stroke, spinal cord injury, and diabetes. We are looking at the relationship between muscle exercise and tagging certain genes known to be strong signatures of metabolic health. The outcomes of all of these types of studies will help chart the course for using genetic biomarkers to guide us as we determine who will benefit from our prescribed movement-based interventions.
What should people take away from this session?
RS: Be ready. Get your minds around the fact that genomics is and will continue to be a part of our profession. Start incorporating the needed content into curricula, but don't panic and don't "jump the gun" by promoting false information that sets the health care world back. There is still a long way to go before the evidence is sufficient to drive care. Stay calm and become a par excellence consumer of genomic and epigenetic literature so that you add value to the overall movement of precision health among the health care team.
For more in-depth discussion, listen to this recent podcast interview between PTJ Editor-in-Chief Alan Jette, PT, PhD, MPH, FAPTA, and Richard Shields.
To attend this exciting CSM session, register now at www.apta.org/CSM/. CSM advance registration discounts end December 5.