Volume 4, May
2004
www.psljournal.com/archives/geneHealth.html
The Secretary’s Advisory Committee on Genetics,
Health, and Society:
Summary of the October 22-23, 2003
Meeting
Amanda Sarata, Fay Shamanski, Suzanne Goodwin, and
Sarah Carr*
* The authors are staff to
the Secretary's Advisory Committee on Genetics, Health, and Society, which is
managed by the National Institutes of Health Office of Biotechnology
Activities.
The development and use of
genetic technologies raises a broad range of human health and societal issues.
In 2002, the U.S. Secretary of Health and Human Services chartered the
Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) to
explore, analyze, deliberate and provide advice on these issues. SACGHS’
membership is diverse and multidisciplinary. Its 13 members include experts in
molecular biology, genetics, medicine, nursing, public health, health
insurance, law, ethics, and consumer advocacy. The Committee’s activities are
informed and guided by representatives of 16 federal agencies and departments.
This breadth of expertise and input is critical to the Committee’s ability to
provide reasoned assessment of the wide range of issues it may potentially
consider.
At its inaugural meeting in
June 2003, SACGHS heard presentations on current and future applications of
genetic technologies and the wide range of issues raised by the development of
those technologies. A major goal of the meeting was to identify high priority
issues for further deliberation and study. The Committee expressed serious
concerns about the potential misuse of genetic information by health insurers
and employers and took a strong stand in support of federal legal protections
against genetic discrimination in these settings. The Committee also identified
oversight of genetic technologies, genetics education and training of
professionals, and the adequacy of the genetics workforce as areas of interest,
and requested briefings on these topics. Informational presentations and
discussions on these topics thus formed the central elements of the agenda for
SACGHS’ second meeting in October 2003. Time was also taken to explore how two
other countries, United Kingdom and Australia, are addressing issues related to genetic
technologies. This article provides a summary of the topics discussed at the
October meeting and outlines the Committee’s next steps in its priority setting
process.
Oversight of Genetic
Technologies, Marketing and Laboratories
Federal oversight of genetic
technologies, marketing and laboratories is handled by several Federal agencies
and regulatory schemes. The Centers for Medicare & Medicaid Services
(CMS), Centers for Disease Control and Prevention (CDC), Food and Drug
Administration (FDA) and the Federal Trade Commission (FTC) each have jurisdiction
over aspects of the development, use and provision of genetic technologies for
health purposes and all share responsibility for the oversight of genetic
technologies. The Committee heard briefings from agency officials involved in
the management of these programs.
The first group of
presentations focused on the oversight of clinical laboratories, which CMS, CDC
and FDA jointly administer through the Clinical Laboratory Improvement
Amendments (CLIA). CLIA regulations are aimed at ensuring the quality of
laboratory testing, and they cover all laboratory testing performed on humans
in the US for health purposes.
The
main provisions of CLIA, which require laboratories to meet five quality
standards relating to personnel qualifications and responsibilities, quality
control, patient test management, proficiency testing and quality assurance,
were reviewed by Ms. Judith Yost, Director of CMS’ Division of Laboratories and
Acute Care. CLIA’s focus is on assuring the analytical validity of laboratory
tests, not their clinical validity or utility. Ms. Yost emphasized that
laboratories providing genetic tests are already covered by CLIA. However,
since CLIA does not have a molecular specialty, explicit standards for
molecular tests are not specified in the regulations.
In
1997, a DHHS advisory committee, the Clinical Laboratory Improvement Advisory
Committee (CLIAC), proposed that CLIA be augmented to provide specific
requirements for laboratories conducting genetic tests in order to provide greater
assurance of quality. Dr. Joseph Boone, CDC’s Associate Director for Science
in CDC’s Division of Laboratory Systems, noted that when the CLIA regulations
were first promulgated, the genomics revolution was not yet in full swing.
With the ensuing development of molecular approaches to testing, CLIAC
undertook a comprehensive analysis of the regulations to assess what additional
specific requirements were needed to address this growing component of the
diagnostic field. As a first step toward adding a genetic testing specialty,
CDC issued a Notice of Intent in 2000 seeking public comment on the proposal.[1]
As a second step, a Notice of Proposed Rule Making will be issued for public
comment in the near future.
A
second group of presentations featured FDA officials and focused on FDA’s role
in regulating in vitro diagnostic devices. Genetic test kits and analyte
specific reagents (ASRs), the active ingredients in tests, are considered in
vitro diagnostic devices. Manufacturing quality standards, labeling and, to a
lesser extent, advertising of devices are also under FDA’s purview. Dr. David
Feigal, Director of FDA’s Center for Devices and Radiological Health, noted
that genetic tests developed in-house and offered as a service (so-called “home
brew” tests), which account for the vast majority of the genetics tests done
yearly in the US, are primarily regulated by CLIA, not FDA. Home brew tests
that include ASRs are subject to some FDA regulation through a rule finalized
in 1997 known as the ASR rule. Dr. Steven Gutman, Director of FDA’s Office of
In Vitro Diagnostics, explained that the ASR rule classifies most ASRs as Class
I devices; Class I devices are required to meet certain general requirements,
such as following quality systems regulations and restricting sales to
laboratories designated as high complexity under CLIA, but are not subject to
premarket review by the agency. Dr. Gutman reported that the FDA is planning
to revisit the ASR rule to determine whether the current classification system
is appropriate and that the rule provides sufficient safeguards on ASRs. In
addition, it is becoming apparent that some new genetic technologies may not
fit the definition of an ASR due to their complexity and intended uses. The
agency does not, however, intend to classify genetic tests per se differently
from other tests; the classification will be based on an assessment of the risk
posed by the test.
FDA’s
use of pharmacogenomic tests in the drug review process was described by Dr.
Lawrence Lesko, Director of FDA’s Office of Clinical Pharmacology and
Biopharmaceutics. Currently, most pharmacogenomic tests have not been
sufficiently validated to be included in the FDA drug approval process. Dr.
Lesko indicated that the agency is endeavoring to promote broader use by
expanding its own knowledge and understanding of the technology. The agency is
requesting voluntary submissions of pharmacogenomic data and developing
guidance for industry on the submission of the data. Dr. Lesko indicated that
the processes of drug development and relevant pharmacogenomic test development
ideally should occur concurrently.
The
oversight of the marketing of genetic tests is the responsibility of both the
FTC and FDA. FTC monitors advertisements for unfair or deceptive acts or
practices and is authorized to take action against those who deceive or cause
injury to consumers. To maximize its impact with limited resources, Mr.
Matthew Daynard, Senior Attorney in FTC’s Advertising Practices Division,
explained that the agency focuses its attention on products or services that
present significant safety concerns, make claims about serious diseases, and
are being marketed on a nation-wide basis. FDA is primarily responsible for
assuring that labeling is accurate and promotional material does not promote
"off-label" use. The ensuing discussion highlighted that fact that
home-brew tests not using ASRs fall into a regulatory gap since FDA does not
monitor labeling and promotion of these tests. While FTC could regulate the advertising
of home-brews marketed as services, it has not done so up to this point.
The
Committee did not draw any firm conclusions about the adequacy of current
government oversight of genetic tests and its priority as an issue for further
Committee study is still being explored.
Genetics Education and
Training and Workforce Analysis
As more genetic
technologies become available for clinical use, efficient, appropriate and
equitable integration of genetics into health care and public health becomes even
more critical. Achieving appropriate and optimal use of genetic technologies
depends heavily on the adequate education and training of health professionals
in genetics.
The session on genetics
education, training and workforce was introduced by Dr. Joann Boughman,
Executive Vice President of the American Society of Human Genetics (ASHG) who
framed the issue, reviewed the recommendations of prior studies of the issue,
and highlighted some of the progress made to date in this area. She concluded
by noting that educating health professionals to be able to successfully
integrate genetics into their practice poses an enormous challenge.
This session’s
presentations reviewed Federal and private sector efforts currently underway in
the Federal government and the private sector to enhance genetics education and
training of professionals. The results of a survey of SACGHS’ 16 ex officio
agencies and departments on the number, nature and outcome of federal efforts
to enhance genetics education and training and to analyze genetics workforce
needs were presented by Dr. Sam Shekar, Associate
Administrator of the Bureau of Primary Health Care at the Health Resources and
Services Administration (HRSA). Currently, there are more than 180 relevant
activities being conducted within seven of the reporting agencies with over
$102 million dedicated to these efforts. Federal efforts generally address the
need for facilitating the translation of genetics into practice and emphasize
access through this translation and appropriate integration.
Information on the many
efforts being undertaken in the private sector by both organizations and
professional societies was presented jointly by Dr. Boughman and Mr. Joseph
McInerney, Director of the National Coalition for Health Professional Education
in Genetics (NCHPEG). Professional sector efforts to educate physicians have
focused on curricular changes, continuing medical education, combined
residencies and licensing exam changes, and generally require a commitment from
top leadership. Dr. Boughman also described some of the barriers to enhanced
education and training in genetics. These include an overcrowded curriculum,
the inherent complexity of the probability and risk subject matter, and a
perceived lack of necessity or relevance of genetics to medicine and health
care. These gaps continue to grow, in spite of focused efforts to close them,
because of the rapid increase in genetic knowledge. Although many health
professional groups are seeking help in the form of curriculum guidelines,
course content, and workshops, the heterogeneity of the educational levels of
the practitioners (MD, RN, BA, MS, etc.) and state laws regulating scope of
practice, among other issues, can sometimes pose challenges to the development
of suitable educational materials.
The balance between
specialists and generalists, the role of the genetic specialist in the future,
and the best model to realize the most effective workforce are all issues of
concern when considering the genetics workforce, said Dr. Judith Cooksey,
University of Maryland School of Medicine, who is the principal investigator of
a workforce study on genetic services and the genetics workforce, funded by
HRSA and the NIH. Dr. Cooksey’s study has preliminarily determined that most genetic
services relate to counseling, testing and test interpretation and the number
of genetic specialists is quite small, but it is not clear whether this is
adversely affecting the delivery of genetic services. The study aims to
identify the factors that drive the organization and delivery of clinical
genetics services, with the ultimate goal of defining the most efficient and
effective delivery model.
The role of the genetic
counselor, an important component of the genetics workforce, is evolving as
genetics becomes more integrated into medicine, public health and health care.
Ms. Robin Bennett, Past President of the National Society of Genetic
Counselors, presented information on what is required by graduate programs in
genetic counseling to increase the number, diversity and quality of training of
genetic counselors. Specifically, there is a need for additional programs,
student as well as supervisor stipends, additional faculty, diversity
scholarships, and increased access to expert training. There is currently an
overall lack of funding for programs as well as limited scholarship
opportunities for genetic counseling students.
Overall,
the presentations provided the Committee with a deeper understanding of the
broad scope of current genetics education activities being undertaken through
an array of approaches by a wide variety of organizations. They also made it
clear that addressing the gaps in genetics education and training and workforce
analysis will be a significant challenge. The Committee is continuing to
explore what priority to place on genetics education and training as an issue
for further Committee study.
International Approaches
to Genetics Issues
A number of other countries, including the United
Kingdom (UK) and Australia, have established advisory bodies to respond to
concerns in a manner suitable to their population needs and social and
political structure. The global nature of genetics issues and product markets
encourage countries to share information, communicate about and collaborate on
solutions, and learn from each other’s experiences in addressing similar
problems. In an effort to build bridges between the US and other
nations that are grappling with similar questions, SACGHS invited
representatives of the UK Human Genetics Commission (HGC) and the Australian
Law Reform Commission (ALRC) to report on the work of their committees and
relevant policy developments in their countries.
The HGC was formed in 1999 to provide the UK
government with advice on the ethical, legal, economic and social implications
of advances in human genetics. Its work products include Inside Information,
a report on the storage, protection and use of personal genetic data, and Genes
Direct, which offers recommendations on the provision of genetic services
direct to the public. ALRC was established in 1975 as an independent federal
statutory corporation that provides advice to the Australian government on
federal laws and legal processes. The ALRC recently completed a comprehensive
review of the protection of human genetic information in Australia,
entitled Essentially Yours.
The presentations identified a range of issues that
are of shared concern. Genetic testing without the involvement of health
providers is a concern shared by both the US and UK. This issue will likely benefit from international
collaboration because the global reach of the Internet will make national laws
that stop at countries’ geographic borders unenforceable and largely
irrelevant. Other areas of mutual concern are privacy and confidentiality of
genetic information, the adequacy of health professionals’ and the public’s
knowledge about genetics, and genetic tests of questionable validity. Genetic
discrimination also is an issue in all three countries. Whereas the concern in
the US focuses primarily on health insurance, in the UK and Australia,
two nations with universal health care systems, the focus is on life
insurance.
Information about the HGC and ALRC, including copies
of their reports, can be found at http://www.hgc.gov.uk
and http://www.alrc.gov.au, respectively.
Conclusion
At the end of the October
meeting, SACGHS determined that an inter-meeting task force should be organized
to help the Committee identify its priority issues. At the next meeting of the
Committee, in March 2004, the Committee will decide on its priority issues and
develop a work plan to address these issues over the coming year. In taking
these next important planning and priority setting steps, SACGHS will be
well-positioned to advise the Federal government on key issues raised by the
development and use of genetic technologies.
