Volume 2, July 2002
Susanne B. Haga, Ph.D.* and Joann A. Boughman, Ph.D.**
* Senior Policy Analyst, Secretary's Advisory Committee on Genetic Testing (SACGT)
** Chair, SACGT Education Work Group and Executive Vice President, American Society of Human Genetics (ASHG)
On May 13, 2002, more than 200 individuals from academia, public health, industry, government, patient advocacy groups, and medical and specialty organizations gathered in Baltimore to consider the challenges of integrating genetic testing into clinical and public health practice and to identify barriers to and gaps in genetics education of health professionals. The meeting, convened by the Secretary’s Advisory Committee on Genetic Testing (SACGT), an advisory committee to the U.S. Department of Health and Human Services, was the culmination of more than a year of information gathering, analysis, and consultation with experts in the field. A working group of SACGT is now drafting a report on the status of genetics education of health professionals that will be presented to SACGT in August for its consideration. The report will include outcomes of the meeting, data and information previously gathered, and recommendations to meet the coming challenges. If accepted by SACGT, the report will be transmitted to the Secretary of Health and Human Services.
The meeting began with welcoming remarks from Eve E. Slater, M.D., FACC, Assistant Secretary for Health, U.S. Department of Health and Human Services, who, due to prior commitments, delivered her speech by video. Dr. Slater pointed out that the need for enhanced genetics education for health professionals was recognized more than 30 years ago and that academic institutions, foundations, professional organizations, and government have taken measures to respond. While recognizing numerous positive advances in the field of genetics, she emphasized the importance of an adequately educated health workforce to apply and interpret genetic tests appropriately. She also suggested that an understanding of the medical risks and benefits of testing alone will not assure the appropriate use of genetic tests. Rather, health professionals must also be aware of the ethical, legal, and social implications associated with genetic information, including concerns about its misuse.
The format of the meeting incorporated the presentation of ideas and models of broad interest and impact, discussion of roles in genetics of various healthcare providers, and deliberation about new challenges and barriers to the genetics education of health professionals in the implementation and provision of genetic testing. The morning session consisted of plenary speakers and an animated panel discussion. In the afternoon, attendees participated in focus groups on topics related to the different levels and types of educational activities.
The first plenary speaker was David Mallott, M.D., Associate Dean of Medical Education at the University of Maryland School of Medicine. Dr. Mallott noted that the field of genetics presents a new way to diagnose and understand disease and stands on the cusp of a new revolution in medical testing. He reviewed the uses of genetic testing and highlighted the differences between genetic tests and other types of medical tests.
Dr. Mallott raised a series of questions about genetics education of health professionals. For example, what do we want to teach students and at what point in the continuum of education should such teaching occur – high school, undergraduate, first year of health professional education, training/residency, continuing education? Physics, chemistry, and calculus are required for admission to medical school in the U.S., but why isn’t genetics? The world of genetics is in many respects invisible to the public and, therefore, calls for a tremendous translational effort to explain it to the public. Dr. Mallott predicted that the tremendous potential of genetics will ultimately generate the change needed in the education of providers.
Eugene Rich, M.D., Chair of the Department of Medicine at Creighton University School of Medicine, presented the family history as a primary predictive test. The family history is a critical element in the predictive value of genetic tests and is included in the calculation of a patient’s personal risk or prior probability. In genetics, family history is typically collected through a family history questionnaire, validation of family medical information, and a telephone and/or face-to-face interview. The family history information is recorded as a pedigree in the medical record and, when done thoroughly, can take up to five hours to gather.
In adult primary care, the implementation of family history information has not been fully realized. The traditional way of teaching family history in primary care focuses on the age and health, or causes of death of parents and siblings and includes a checklist of exposure to diseases and conditions. In family medicine, family history is almost a “ritualistic inquiry” with the primary objective of detecting possible threats to the health of family members and their future offspring. Improvements are being made to the teaching of family history, and the method is evolving to include the collection of more useful information. Increasingly, family genograms are being used to record family history information in primary care. In addition to the traditional elements of a pedigree (ethnicity, biological relationships, age/cause of death, and relevant health information), genograms display social and interpersonal relationships.
Some of the barriers to the practice of good family history-taking in primary care include time pressures, current reimbursement policies, practice organization and resources, and knowledge and information applicability. Dr. Rich predicted that, in the future, family history aids would consist of electronic tools for data entry, which would become a portable electronic family history and be translated into an electronic medical record. Point-of-care tools would then provide advice about predictive genetic testing and medical management.
The final plenary speaker, James Evans, M.D., Ph.D., Clinical Associate Professor of Medicine and Director of the Clinical Cancer Genetics Program at the University of North Carolina, discussed genetics in primary care and the spectrum of utility in predictive genetic testing. Dr. Evans noted that genetics is already part of primary care and that, for example, it is prudent for an emergency room physician to consider the family history of a patient with chest pains in the diagnostic work-up and treatment decisions. Common diseases with a confirmed genetic component encountered in primary care include cancer, infectious diseases, Alzheimer disease, and schizophrenia.
Predictive genetic tests assess a potential risk or probability of developing a disease or condition. In Dr. Evans’ view, a predictive genetic test is determined to be useful if it has a high predictive power and provides an opportunity to intervene in a disease process and to affect outcome, however imperfect. The utility of a test is a moving target and hinges on such factors as the availability of an effective treatment. Today’s genetic tests span a spectrum of utility from high to low to none. A test of high utility is characterized as one that is highly effective, generally accepted by the medical community, and for which a presymptomatic intervention is available. A test of low utility test has questionable validity and no effective presymptomatic intervention, and it can even be harmful in some instances. Dr. Evans described two tests of intermediate utility for colorectal cancer and breast/ovarian cancer as well as a predictive test of low utility for Alzheimer disease. The dynamic character of the spectrum of utility will be influenced by progress in treatment of disease, improved presymptomatic diagnosis of disease, and efficacious options for prevention with or without adverse side effects. In addition, the position of a test along the spectrum, i.e., its usefulness, may vary among individuals depending on personal and familial experiences.
Dr. Reed Tuckson, SACGT member and Vice-President for Consumer Health and Medical Care Advancement at UnitedHealth Group, moderated a panel discussion on the various roles of healthcare providers in the provision of genetics services and the differing levels of genetics education and competencies. The panel was composed of seven professionals representing medical genetics, pediatrics, family practice, nursing, allied health, oncology, and health insurers. To explore how the seven panel members were trained to think about genetic issues and how they define their roles in the provision of genetics services, Dr. Tuckson used a hypothetical genetics case study necessitating the services of all the professions represented on the panel. The discussion highlighted the sometimes overlapping roles of health professionals in the provision of genetics services, the qualifications of health professionals to provide these services, the adequacy of genetics education for primary care providers, the challenge in defining tasks and responsibilities, and reimbursement dilemmas.
The afternoon focus groups were organized into topics that fall along the continuum of health professional education: genetics content in curricula; training, examinations, and accreditation; genetic resources and tools; and implementation of new genetic practices. The moderators of each focus group presented a summary of their group’s discussion and recommendations for SACGT to consider.
The host of ethical, legal, and social issues raised by genetics was a common theme in all four groups. Some issues were discussed in terms of the information that should be taught to health professionals and how new genetic practices should be implemented. In particular, health professionals need to understand these issues in order to communicate them to patients who are considering genetic testing. For example, since there is still no Federal law preventing genetic discrimination, privacy and confidentiality of genetic information remain a major concern. The informed consent process in genetic testing can be extremely intricate due to the amount and complexity of information about the test itself, the test results, and associated ethical, legal, and social issues. Participants questioned how healthcare providers could adequately provide the necessary information in a timely manner and ensure that patients understand what the test can and cannot do for them.
Issues that cut across disciplines included the need for a common language in genetics that can be used by all health providers and the need for a short list of “genetics vital signs” or red flags to alert clinicians to signs and symptoms that may signal a genetic problem. Tools, resources, and model programs were discussed and the need for continued and enhanced support for resources and faculty development was emphasized. In particular, the development of evidence-based guidelines was strongly recommended.
This broad-based and interdisciplinary conference brought many professions and practitioners together to explore common challenges and mutually beneficial solutions to integrating genetics into healthcare. The presentations and discussions brought useful focus and new energy to the challenges ahead. The SACGT report to the Secretary will strive to capture these discussions and translate them into recommendations to the Department that will help effect the integration of genetics into healthcare.
Return to Home Page