Clinical Genomics in Physical Therapy: Where to From Here?

The arrival of clinical genomics has heralded a new era in health care. Personalized medicine, a concept that involves the delivery of therapeutic intervention based partly on genomic information derived from the patient, is now becoming a more realistic goal thanks to the rapid development and implementation of genomic medicine in routine health care. Genomic testing, involving the examination of a person's DNA, can provide information on patient susceptibility to some diseases or abnormalities and even inform how someone may respond to different intervention types, including both physical and pharmacological interventions.1,2 Clinical genomics tests are becoming more affordable, more relevant, and more widely used, with the number of tests performed in routine health care expected to rise at an exponential rate.3 Owing to its increasing prevalence and visibility in clinical care, clinical genomics has a growing importance for patient assessment and management in a variety of settings, including primary care, hospital settings, and physical therapist management. Despite the growth and availability of testing, the physical therapy profession remains relatively silent with regard to recognizing the potential importance of genomics for clinical practice. Although there is some evidence of a growing interest in the interaction between clinical genomics and physical therapist practice,4–9 there remains a paucity of published works in the area. Clinical genomics involves the utilization of one of several methods to extract and examine genetic material from human cells. These methods extract DNA from cell nuclei, allowing sequences of DNA to be compared to known databases that include information on disease likelihood, phenotype prevalence, or drug efficacy.2 Such investigations include molecular tests to identify variations in single genes that may lead to genetic disorders, chromosomal genetic tests to identify large genetic changes that can cause different conditions, and biochemical tests to study the amount or activity level of various proteins that may indicate changes to the DNA, resulting in a predisposition to certain disorders. Examples of such testing include tests for cystic fibrosis10 or for identifying risk of developing breast cancer.11 Emerging evidence also suggests that genetic testing may help to identify risk for persistent musculoskeletal pain following traumatic injury.12,13 Perhaps unsurprisingly, many medical schools worldwide have recognized the need for education in genomic medicine and are planning accordingly,14 whereas other health care professions are already embracing clinical genomics. For example, within the nursing profession there has been a visible and concerted effort to generate momentum with the aim of developing frameworks and competencies for training nurses in this area.15,16 The rapid expansion of clinical genomics is not unique to clinical medicine or nursing practice, nor is it restricted to a laboratory-based research environment.3 The advancement of clinical genomics has witnessed explosive growth in the number of at-home genetic tests now widely available through direct-to-consumer services such as those provided by 23andMe.17 As these tests become increasingly accessible, physical therapists should prepare for a not-distant future—if not already here—in which part of their patient's medical record includes some form of genomic analysis. As an example of the current technology available to clinical medicine, it is now possible for medical practitioners to order tests to better inform pharmacological management for their individual patients, at least for certain pathologies.2 Immediately relevant to physical therapist practice is the growing body of evidence suggesting a genetic influence on the clinical course of patients with osteoarthritis, low back pain, and cardiovascular disease.4 Genetic variants have also been identified for many common musculoskeletal conditions, including those that may influence rotator cuff injury18 and healing,19 ankle20 and knee21 ligament injury, femoral fractures,22 and stress fractures.23 Furthermore, individual responsiveness to interventions recommended in clinical guidelines for many conditions, including aerobic and resistance exercise,24,25 has been shown to be influenced by DNA variants.26,27 Genomics also appears to have consistent and potentially important influences on patient experiences of pain and disability and the likelihood of recovery from injury.28 However, although such studies have allowed a glimpse of the potential utility of clinical genomics, such data should be appraised cautiously, as cause and effect remain unconfirmed in most cases. Further studies with larger numbers of participants, family studies to explore causal pathways of genomic variants and inheritance, and careful exploration of genomic function are required to allow definitive conclusions to be drawn from such work. Due to the arrival of clinical genomics, it is likely that entry-level physical therapists will need to be skilled in more aspects of clinical practice in order to be clinically competent in the face of a changing health care environment. These skills should, in our opinion, include competencies that are directly relevant to the practice of physical therapy, such as: (1) an ability to competently define “clinical genomics”;15 (2) the ability to recognize people who may benefit from clinical genomics; (3) a functional knowledge of the cultural, ethical, and legal implications of clinical genomics in practice;29,30 (4) an ability to critically appraise the validity and usefulness of new clinical genomics research as it may relate to physical therapist treatment decisions; (5) an ability to reflect on one's own competence with respect to clinical genomics; (6) an ability to accurately communicate information on clinical genomics to other health care professionals and patients, including critical appraisal of new evidence; and (7) an ability to demonstrate accurate and responsible support for persons who have received and possess the results of clinical genomics testing, and decide whether that information is relevant to physical therapist practice15 or whether a judicious referral is required. It is noteworthy that in many ways, the technologies involved with genomic testing have developed faster than our understanding of their implications.30 Accordingly, ongoing learning opportunities for current practicing clinicians will also be required. There will be many factors to consider when approaching clinical genomics and how to integrate it within current physical therapist practice, including factors that are beyond the technicalities of how genomics “works.” On an individual level, direct-access physical therapists may soon require access to training opportunities to develop competence not just in understanding the relevant information from a patient's genetic test results, but also in appraising the testing procedure used, appraising the relevant literature base supporting those procedures, having some understanding of the mechanisms that explain the associations between genetics and clinical presentation, and having an understanding of the bioethical considerations related to taking action based on information from genomic tests. Physical therapists will also require an understanding of which medical professionals and pathways are most appropriate for referral when specialist knowledge of clinical genomics (eg, genetic counselors) is required that is beyond the scope of physical therapist practice. Through development and demonstration of such competence, physical therapists will continue to enjoy a position of respect within the wider health care community. Competence in clinical genomics will also provide additional opportunities to work with colleagues in nursing and medicine who have established professional competencies related to clinical genomics toward integrating such information within a health care team to facilitate informed management. In this way, the physical therapy profession can partner with other professions to further strengthen and define its role in patient-centered health care as the practical utility of clinical genomics is further identified and refined. The physical therapy profession has a long history of adopting change and should not be apprehensive about exploring the potential of clinical genomics and its possible integration within our profession. In the United States, regulatory bodies now require spinal manipulation and imaging modalities to be included in entry-level training.31,32 It is with this history that we, and others before us,5,6,9,17 are endorsing a discussion of clinical genomics and its inclusion in entry-level (professional) training programs. Such discussion should include, but not be limited to, developing competencies, special interest groups, and global societies (eg, International Society of Nurses in Genetics, http://www.isong.org/) to facilitate the integration of clinical genomics into professional practice. The first steps toward the development and maintenance of an informed physical therapy profession could include formation of special interest groups (nationally and internationally), involvement in further research on the impact of clinical genomics, and a symposium on the potential impact of clinical genomics to the physical therapy profession. If the outcome of such a discussion is that clinical genomics is likely to affect the role of an evolving physical therapist practice, our professional community needs to decide how such information can be integrated into professional education frameworks or work-ready competencies, curriculum delivery, licensure examinations, and professional development offerings. It would seem crucial that such conversations address how new information should be integrated into an already content-heavy curricula and a heavily congested professional development landscape. The development and uptake of competencies that will successfully integrate clinical genomics into the many diverse areas of physical therapist practice would not be trivial; however, that does not mean it should not be considered in order to maintain and protect the position of physical therapists and their role as autonomous but collaborative health care professionals. We suggest that those physical therapists who are prepared for the next big shifts in health care, including clinical genomics and personalized rehabilitation, stand to be in an excellent position as the field continues to grow. Once the exclusive intellectual and practice domain of a small number of medical specialists, genomics now has visible impact and relevance across a variety of clinical, professional, and consumer sectors. Clinical genomics has the potential to provide patient-centered information that gives stakeholders a more informed and comprehensive assessment beyond the standard collection of region-specific outcome measures and clinical tests, leading us toward the very real future of “personalized rehabilitation.” Such information is expected to improve understanding of the heterogeneity of many conditions, including common presentations such as low back and neck pain, where costs continue to rise at alarming rates33 with little appreciable change in prevalence.34 Although many recent investigations identifying different genomic variants highlight the potential utility of clinical genomics to physical therapist practice, many applications require further substantiation and evidence to make them practical for day-to-day clinical care. The evidence is also increasingly clear that an appropriate, judicious, and ethical use of genetic information in physical therapy appears primed to lead to improved clinical outcomes as research accumulates. With the widespread uptake of clinical genomics, many physical therapists are likely to require rudimentary skills in this area to support practice decisions related to many different aspects of care, such as patient support, ethical and social implications of this technology, and communication of relevant care and clinical information. Importantly, this raises the very legitimate argument that ignoring advancements in clinical genomics is not only professionally unsustainable, but also unethical. The physical therapy profession cannot afford to wait while clinical genomics advances and other professions actively work to define their roles in relation to this service. Indeed, if our profession does not act, there is the very real possibility that other professional bodies and consumers of care could frame our future professional boundaries, which could force the profession to practice from a position of technological disadvantage. We suggest the profession needs to decide how to appropriately engage, inform, and partner with other health care professionals to help drive and define the role of physical therapist practice as the field of clinical genomics develops. As Professor Richard Shields eloquently opined during his 48th Mary McMillan lecture, “If we are caught watching the paint dry while these revolutionary studies facilitate the precision of pharmaceutical interventions…then we will have lost an important opportunity.”20 In agreement with Professor Dr Shields, we suggest that it is not acceptable to sit idly by and simply acknowledge the presence of clinical genomics. On the contrary, the physical therapy profession needs to embrace clinical genomics to both preserve its operational roles and help shape the future delivery of personalized health care. Concept/idea/research design: J. Cornwall, J.M. Elliott, D.M. Walton, P.G. Osmotherly Writing: J. Cornwall, J.M. Elliott, D.M. Walton, P.G. Osmotherly Project management: J. Cornwall Consultation (including review of manuscript before submitting): J.M. Elliott, D.M. Walton, P.G. Osmotherly The authors completed the ICJME Form for Disclosure of Potential Conflicts of Interest. They reported no potential conflicts of interest related to this article.

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