Long, Toby M. PhD, PT; Brady, Rachel MS, PT; Lapham, E. Virginia PhD
Over the past decade, significant advances have been made in the mapping and sequencing of the human genome. The rapid advances now occurring in genetics research to identify, and in some cases to prevent or cure, genetic diseases are having a significant impact on healthcare. The new genetics frontier promises to identify the genetic components of virtually all disease and disability with the possible exception of trauma. In stroke, heart disease, cancer, and conditions leading to developmental disabilities, the role of genes is being uncovered in the laboratory and reported in the media almost daily. It is important that healthcare professionals, including physical therapists, be prepared to incorporate this new information into their practice.
Physical therapists work with clients who have conditions with a genetic basis or genetic disorder. Pediatric physical therapists conduct intake interviews and take medical histories, which may indicate a genetic component to their client’s physical or developmental problems. After examination, physical therapists frequently give a label to developmental symptoms, such as cerebral palsy. Physical therapists may also recommend additional medical evaluations, which could lead to a diagnosis of a genetic disorder. 1
Consumers of genetic services, such as individuals identified with genetic disorders and their families, are the group most affected initially by genetic advances. These individuals are often asked to participate in research, to try new treatments, and to choose how much they would like to know about their future health risks. Predictive genetic testing allows some diseases to be diagnosed years before the onset of symptoms. This information can be an advantage to consumers when preventive measures are available, but it can result in confusion and discouragement when a serious disease with few treatment options is predicted. Consumers are faced with increasingly complex issues, yet they have little education on the emerging genetic issues except what may be provided by the popular media.
The new advances in genetics bring new challenges to healthcare professionals like physical therapists. Physical therapists and other healthcare professionals are often the first to suspect that a client may have a genetic condition. Physical therapists may need to recommend that a client seek further services for a genetic or suspected genetic condition. They may also be in the position of giving guidance to clients about seeking and accessing genetic testing or referring their clients for genetic counseling when a genetic condition has been diagnosed. All healthcare providers, including physical therapists, will need information about how to properly refer clients for genetic testing and counseling and where in their communities these services are located. Physical therapists will also increasingly need to assume responsibility for protecting their client’s confidentiality and the privacy of genetic information.
HUMAN GENOME PROJECT
The Human Genome Project has led to many new advances in the field of medical genetics. The Human Genome Project began in 1990 with the goal of identifying all the genes in the human body by 2005. So far project investigators have unraveled and located 30,000 to 35,000 genes (short segments of DNA) on our 23 pairs of chromosomes. 2 These genes contain an estimated 3 billion bits of information represented by the four letters A, C, T, and G. The sequencing of these letters allows them to be read and stored. 3 After the human genome is mapped completely, scientists will be able to take a blood, saliva, hair, or other DNA sample from an individual and provide information about his or her medical inheritance, including risks of future diseases.
The Human Genome Project brings many benefits to the field of medical genetics. New information may be gained about the function of genes and their role in human development and disease. Currently, the Human Genome Project has identified the genes responsible for diseases such as cystic fibrosis, colorectal cancer, and certain types of breast and ovarian cancer. New treatments for these diseases or even the prevention of these diseases may be possible. However, there are also risks that come with this new knowledge. Issues of discrimination in insurance and employment and invasion of the patient’s privacy are some of the risks society and healthcare providers must consider. For example, carriers of sickle cell anemia have been discriminated against when attempting to obtain life insurance, medical insurance, and employment. 4
THE HUMAN GENOME EDUCATION MODEL
The Human Genome Project and the genetics field have raised a host of ethical, legal, and social issues. The Ethical, Legal, and Social Implications (ELSI) Research Program of the National Human Genome Research Institute at the National Institutes of Health was established in 1990 to study these issues. The ELSI program focused on four priority areas: privacy and fairness in the use and interpretation of genetic information, clinical integration of new genetics technologies, ethical issues surrounding research, and public and professional education. ELSI researchers found a lack of preparedness among health professionals to apply the new genetic advances in their clinical settings. In 1994, a committee was formed by the Institute of Medicine of the National Academy of Sciences to examine issues of genetic testing; this committee recommended that health professionals be trained in the ethical, legal, and social issues surrounding genetic testing.
Education of healthcare professionals has become one of the highest priorities of the Human Genome Project; thus, the National Institutes of Health funded two educational projects, the Human Genome Education Model Projects (HuGEM-I and HuGEM-II). 5 The focus of these projects is to understand the genetics education needs of healthcare professionals and to provide that education. The HuGEM projects consist of three phases: conducting a survey of healthcare providers; educating healthcare providers and educators of healthcare providers on genetics and ELSI issues; and evaluating of the effectiveness of the HuGEM projects.
In 1995, an exploratory study of 329 health professionals in 52 of the 71 university-affiliated programs showed that a majority of these health professionals, including physical therapists, were already providing some kind of genetic services to their clients. 6 A majority of these professionals reported that many of their clients’ medical or developmental problems have a genetic component and that they refer clients for genetic testing and counseling; some (25%) also reported that they were providing counseling about genetic concerns.
To further investigate the impact of advances in genetics on health professionals in their practice, a random sample survey of members of six professional associations was conducted in 1998. This study was performed as part of HuGEM-II.
The six associations sampled were the American Dietetic Association (ADA), American Occupational Therapy Association (AOTA), American Psychological Association (APA), American Physical Therapy Association (APTA), American Speech and Hearing Association (ASHA), and National Association of Social Workers (NASW).
The questionnaire used in the 1995 HuGEM exploratory study was revised for the 1998 survey; the revised survey incorporated input from representatives of the collaborating organizations and the HuGEM-II Advisory Committee. Consumers of genetic services identified by the Alliance of Genetic Support Groups reviewed the questionnaire at each stage for sensitivity to consumer issues. The questionnaire was then provided to the Survey Research Center at the University of Maryland to identify potential problems with the wording of questions or response measures and to conduct the survey. Each association drew a random sample of members who were direct-service providers and sent the list of names and addresses to the Survey Research Center for mailing and coding of responses.
A pretest of 25 members from each association (150 total) revealed no major problems with the quality of the questionnaire or potential problems with response rates. Coded questionnaires were mailed to 3600 health professionals (600 from each association); a cover letter asking for participation was included with each questionnaire. A reminder postcard was sent a week later. A month after the start of the survey, a second copy of the questionnaire and a modified cover letter stressing the importance of participating in the study were sent to those who had not responded. Additional postcard reminders were sent to all members who had not responded. The overall response rate was 57%; the group response rate ranged from 46% in the APA sample to 64% in the ASHA sample (Table 1). The response rate for the APTA sample was 56% (Table 1). These response rates are considered adequate for a mail survey.
The demographic characteristics of the members who responded were found to be typical of the association memberships in gender, age range, and work experience (Table 2). Of the 322 respondents from the APTA, 71% were women and 91% were white. Just over 9% of the respondents from the APTA identified themselves as Asian American (5%), Hispanic (2%), African American (0.3%), Native American (0.3%), or other ethnicity (something other than white) (2%). The educational level of the majority of respondents from the APTA was a bachelor’s degree. Approximately 39% held a master’s degree, and less than 3% held a doctoral degree. Mean age of respondents from the APTA was 37 years, and the mean number of years in the profession was 12. When compared with the entire sample of respondents, those from the APTA were similar in all demographic characteristics except mean age and level of education. The mean age for the entire sample was 42 years, ranging from 38 years for respondents from the APTA to 50 years for those from the APA and NASW. The highest level of education completed by all respondents varied by profession, with more than 98% of psychologists holding doctoral degrees, 94% of social workers and speech-language pathologists holding master’s degrees, and just over half of respondents from the other three professions holding bachelor’s degrees. This finding is consistent with the level of education necessary for entry-level practice in these professions.
Work Settings and Client Characteristics
The respondents were asked to name the settings in which they worked that provided health services to clients with genetic conditions. Thirty percent of respondents from the APTA worked in hospitals, 7% worked in home care, and 7% worked in private practice. The remaining respondents from the APTA worked in schools (26%), other settings (26%), or clinics (4%). Nearly two-thirds of all respondents, including those from the APTA, worked in metropolitan cities or suburbs, whereas the others worked in small towns and rural areas. About 75% of the physical therapists reported that the majority of their clients were more than 40 years old, and 37% of physical therapists served individuals older than 65. The remaining respondents from the APTA worked with clients 21 to 39 years old (13%) or children and young adults less than 20 years old (<13%). Thirty percent of the entire sample worked primarily with clients who are 65 years or older. Another 30% worked with children and young adults aged 20 years or less. The physical therapists estimated that 12% of their clients had a genetic disorder, 26% had conditions that were both genetic and environmental (origin other than a genetic cause, such as trauma), and the remaining 62% were considered to have conditions that were only environmental. Only 5% of the respondents in the entire sample indicated medical genetics or genetics counseling to be among the disciplines in their primary work settings.
Provision of Genetic Services
The respondents in this survey were asked about four specific genetic services (Table 3). A majority (68%) of the physical therapists reported that they had discussed the genetic component of their client’s problems with at least a few of their clients. Also, 18% of the physical therapists reported providing counseling about genetic concerns to at least a few of their clients. No attempt was made to learn what was included in the counseling. It was noted, however, that this type of counseling was performed by approximately one in six of the occupational therapists and physical therapists. About half of the psychologists and social workers also provided counseling about genetic concerns. In contrast, only about 8% of the physical therapists made referrals for genetic counseling, and approximately 9% made referrals for genetic testing.
Job Responsibilities and Confidence
Respondents reported having a variety of job responsibilities that could involve knowledge and use of genetic information (Table 4). These responsibilities included taking family histories, writing reports, and referring clients to community resources. A list of genetic services that could be included in the job responsibilities was provided, and respondents rated their confidence in providing each service. Confidence was measured on a five-point scale from 1 (low confidence) to 5 (high confidence). Because less than 10% of respondents rated themselves a number 5 on any of the services listed, high confidence was defined as 4 or 5, and low confidence was defined as 1 or 2 (Table 5).
A comparison of job responsibilities and genetic services that could be part of job-related responsibilities showed the following significant gaps:
1. Intake interviews and family or medical histories. As part of their job responsibilities during the previous year, a majority of respondents from each profession had conducted intake interviews and taken family or medical histories. More than 91% of the physical therapists who responded had taken medical histories, and more than half conducted intake interviews and had taken family histories. However, only 19% reported high confidence in eliciting genetic information as part of these interviews and histories.
2. Assessments and interventions. Assessments were conducted by more than three-fourths of all respondents during the prior year according to the responsibilities of each profession. Seventy-seven percent of physical therapists performed disciplinary assessments, and about 80% provided therapeutic interventions. Only 11% of respondents from the APTA reported being confident in discussing the genetic basis of disorders or conditions with their clients as part of their assessments and interventions. These findings were similar to findings in respondents from the AOTA and ASHA. Respondents from the APA (27%) reported the most confidence in discussing the genetic basis of conditions with clients.
3. Counseling services. Eighteen percent of the physical therapists provided counseling about genetic testing to at least a few of their clients (Table 3); however, only 11% reported having high confidence in providing this counseling. This discrepancy is not unique to physical therapists. Psychologists and social workers are the major providers of counseling services in this country, 7 and a majority of respondents from the APA and NASW (87% and 81%, respectively) had provided counseling services in the previous year. Yet less than 30% of respondents from these two associations reported high confidence in providing counseling to clients making decisions about whether to have genetic testing. About half of the psychologists and social workers, however, were confident in providing psychosocial counseling related to coping with a newly diagnosed genetic disorder.
4. Communicating information. Most respondents from the APTA (88%) interpreted the results of their disciplinary assessments for clients and families. This result was similar to that for the entire sample. Yet few respondents (16%) reported high confidence in providing guidance to clients with genetic disorders about what impact the genetic condition might have on future development. More than 90% of all respondents and 95% of physical therapists wrote reports during the previous year. Yet only 10% of respondents from the APTA and less than one in four of all respondents had high confidence in obtaining written informed consent before releasing genetic information in reports to third parties.
5. Making referrals. A majority of respondents from the APTA (81%) and from the total sample (84%) had referred clients to community-based resources during the previous year. Yet less than 20% of the whole sample (from 9% of physical therapists to 29% of social workers) were confident in referring clients for genetic counseling. Fewer physical therapists (19%) than any other group were confident in referring clients for genetic counseling. Twenty percent of respondents from the APTA, however, felt confident in making referrals for psychosocial counseling related to genetic issues.
6. Preparing the next generation of professionals. More than 60% of all respondents supervised students, with 69% of physical therapists reporting this responsibility. Fifteen percent of physical therapists reported presenting papers at professional meetings, which is slightly lower than the percentage for the full sample (25%). The majority of physical therapists reported that they were responsible for training in their profession, yet few respondents felt confident in training in the area of genetic services.
Fourteen percent of respondents from the APTA reported taking one or more courses in genetics. However, almost 35% of the respondents from the APTA reported taking no formal courses in genetics in either graduate or undergraduate programs. Just over 45% recalled having genetics content in a course, and 18% had received genetics content from conferences and continuing education courses. Overall, only 8% of all respondents had received genetics content from genetics professionals. Five percent reported working in settings with medical geneticists or genetic counselors. Although most respondents obtained information about genetics from the media during the previous year, more than 80% had heard little or nothing about the Human Genome Project. More than one in four of all respondents had received genetic information from clients within the previous six months.
To consider the effects of genetics education on confidence in providing genetic services, respondents were divided into three discrete categories according to the amount of genetics education they had received. The categories were as follows: (1) respondents who had taken one or more courses in genetics, (2) respondents with genetics content in course work, and (3) respondents with no genetics courses or content. The more genetics education a respondent had, the more confident he or she was in providing seven of the nine genetic services listed (Table 6). Each of the seven services, including eliciting genetic information as part of family histories and making referrals for genetic counseling, was statistically significant (p < 0.05). Confidence in providing genetic counseling was not significantly different in relation to educational level except in the psychologists. There was also a trend for social workers with more genetics education to be more confident in providing counseling services, but this was not statistically significant.
Desire for Continuing Education in Genetics
The majority of physical therapists (64%) agreed that there was a need for continuing education. Nearly two-thirds of all respondents said they would be interested in attending continuing education workshops in genetics at their professional conferences. More than one-third reported interest in having training to provide education on genetic issues to colleagues, clients, or students. To assess what issues or topics would be most useful to the health professionals in providing continuing education, 13 possible topics were listed on the questionnaire, and respondents rated each topic on a scale of 1 (very useful) to 4 (not useful). The mean ranking for the topics ranged from 1.75 to 2.5, indicating that almost all of the topics were at least somewhat useful. The physical therapists ranked the topics as follows:
1. Role of genetics in common disorders such as stroke, heart disease, and cancers
2. Overview of human genetics
3. Helping clients cope with a new genetic diagnosis
4. Identifying genetic resources for clients
5. Genetic information and racial or ethnic concerns
6. New treatments for genetic disorders, including gene therapy
7. Privacy and confidentiality issues in releasing genetic information to others, such as health insurers, schools, and employers
8. Communicating genetic information to clients
Five of the top eight priorities were the same for each association, although in somewhat different order. For example, communicating genetic information to clients was priority 5 for members of ASHA and priority 6, 7, or 8 for members of other associations. The priority topics identified by the respondents provided the basis for the curriculum content of the core course for health professional educators, the workshops for practitioners, and the materials developed by the HuGEM Project.
Sources of Information
Most respondents from the APTA reported receiving their information about genetic advances from the popular media, including newspapers or magazines (83%) and television and radio (76%). Another significant source of information was professional journals or books (74%). Less than one-third received information from conferences (32%) or continuing education (29%). Clients (28%) and the internet (23%) were also sources of information for the physical therapist respondents. Less than 10% received information from genetics professionals. The majority of the physical therapist respondents (64%) thought there was a need for continuing education in genetics.
SUMMARY AND DISCUSSION
This survey was a random sample study of direct-service providers from six organizations for health professionals. The findings indicate that physical therapists provide a variety of assessments and therapeutic intervention services in hospitals, home care, private clinics, and other medical and community settings for clients with genetic concerns. The majority of clients served were adults, but a significant portion were children. A large percentage of the physical therapists surveyed had discussed with at least some of their clients the genetic basis of their condition. The physical therapists acknowledged a lack of confidence in discussing with clients the genetic component of their condition and referring them to genetic counseling or testing services.
The majority of physical therapists acknowledged that they had limited or no education in genetics and that they had obtained most of their information through the media. The majority of respondents from the APTA wanted continuing education in genetics. The respondents from all the associations closely agreed on the priority of topics. These findings show a strong recognition by the respondents of the need for genetics education.
It was surprising that the respondents, including the physical therapists, provided counseling about genetic concerns but that few referred their clients for genetics counseling. Availability of genetics counseling is probably not a major barrier because most respondents were located in metropolitan areas, where genetics professionals are more likely to be found. The finding that respondents referred clients for genetic testing as often as they referred them for genetic counseling was also unexpected. This indicates a need for guidelines on making appropriate referrals.
The indicated top priorities for education reflect the desire for knowledge about basic genetics as well as a desire for skills in applying the knowledge. Skill-building could include the development of guidelines for professionals who are not geneticists. These guidelines could include how to elicit genetic information as part of family history-taking, how to properly obtain written informed consent, how to incorporate genetic information in reports to third parties, and recommendations for when and how to make referrals to genetics professionals.
Limitations of the study include having insufficient information, such as telephone numbers, to follow up with individuals who did not respond to the survey to determine if there were differences between those who responded and those who did not that could have biased the sample. For example, if professionals who gave genetic information to clients were more likely to respond to the survey than those who did not give genetic information to their clients, the rate of those providing genetic information could be less than the 70% found. Another limitation of the study was the size of the APTA sample, which was not large enough to examine the difference in responses between physical therapists who work in pediatrics and those who do not.
The overall recommendation from this study is for professional associations to be aware of the educational needs of all direct-service providers in health settings and to consider provision of continuing education in genetics as a high priority. Courses could be offered at medical centers, universities, and association conferences. Additionally, the National Coalition of Health Professional Education in Genetics 8 has approved a list of basic competencies in genetics education for all health professionals (See page 186 in this issue). It is recommended that these competencies be considered when establishing or revising curriculum content. The list of competencies is also available on the coalition’s web site (http://www.nchpeg.org). Because the physical therapists in the current study thought that education in genetics was important, it would be helpful for the APTA to assign a liaison to the Advisory Board of the National Coalition of Health Professional Education in Genetics, as has been done by all the other associations surveyed in this study. Genetics professionals may also partner with the 60 educators and leaders from the six associations who received 30 hours of training in genetics from the HuGEM Project in May and July 1999. The element of the HuGEM core courses that was most memorable and helpful to many of the health professionals, and that is highly recommended to other genetics educators, was the inclusion of consumers on panels and in workshops to share their experiences and recommendations.
A coordinated effort among professional associations, genetics professionals, and academic institutions will be required to ensure that primary and continuing education efforts lead to the inclusion of genetics competencies and to the fulfillment of the identified priority education topics by all healthcare professionals early in the 21st century.
© 2001 Lippincott Williams & Wilkins, Inc.