Volume 2, July 2002
Health Professionals Prepared for the Task of Integrating Genetics into
Healthcare? – A National Conference Considers the Question
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
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.
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.
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.