**Personalized Health Care Workgroup**

**Vision Summary**

In response to the American Health Information Community (the
Community), the Personalized Health Care (PHC) Workgroup prepared the
following document to assist the Community in its deliberations on
recommendations it will make to the Secretary to address the needs and
expectations of health care stakeholders by the year 2014[^1]. The
concepts and statements in this document are directed to the Community
and subject to further deliberation by the Community. The Workgroup's
vision is predicated on the idea that PHC is a *system* in which
physicians and other health care providers customize treatment and
management plans for individuals based on their unique genetic makeup.
This vision also embraces the notion that consumers are provided more
information about their individualized options and actively participate
in the management of their health care practices. Underpinning this
vision is the confluence of two powerful forces, the development of
Health Information Technology (HIT), and the rapid advances in the basic
understanding of the relationships between disease and genetics. For the
purposes of this document, the vision will be presented primarily from
three perspectives: the consumer, the provider, and the researcher.

***The Vision for the Desired Future***

Consumers will have access to better communication tools such as
electronic newsletters, personalized weekly health updates, personal
health records, as well as interactive systems that allow patients to
electronically query health choices. With these resources, consumers
will become more health literate, informed about health care practices
and choices, and embrace their own healthcare management. As a
consequence, consumers will experience fewer side effects and better
efficacy of treatment. Overall, personalized health care will result in
a system that achieves high quality care and greater value.

Where once providers had to practice medicine much like an art form,
using macroscopic tools to alleviate symptoms, PHC will provide them the
molecular tools to master their art. Making use of genomic profiling
tests, large databases of predisposing factors, family medical history
information, and interoperable Electronic Health Records (EHRs),
physicians will better prevent disease, predict outcome, and help
patients heal faster. With better screening and risk factor profiling
tools, medicine will shift from a disease-focused, crisis-reaction
entity toward a health-focused, proactive vehicle that embraces modern
approaches to disease prevention. Management of health information
through the use of EHRs will eliminate the need for repeated histories
and physicals, and so save time and reduce cost as well as improve the
quality of information. Advanced Clinical Decision Support (CDS) tools
and systems will help the provider keep up-to-date with the latest
medical discoveries and perform complex calculations using advanced
algorithms to take into account the consumer's complete medical history
to make informed clinical decisions that best suit the individual's
needs.

Research and public health will be advanced through improved access to
the vast amounts of information that is readily accessible at clinics
and hospital bedsides that will be collected in a standardized,
searchable format. Overall, the linear translation of information from
the 'bench to the bedside' will bend into a circular channel through the
return of information from 'the bedside to the bench.' Medical research
activities will be improved by higher quality information about
individual differences in health status and there will be greater
ability to implement research results to clinical care on a more
efficient and timely basis. Post-marketing surveillance of the safety
and effectiveness of medical product interventions will be used to
continually refine best-practice guidelines.

***Current Status***

Currently, consumers, providers, and other stakeholders are presented
with a fragmented health care sector, where the emphasis of primary care
is on treatment and acute care rather than on prevention. Consumers have
little interaction with the health care setting outside of visits to
their doctors. They are fearful that their health information may be
used against them for insurance and employment issues, and are not well
educated about how their information may be used without their consent.
While Personal Health Records (PHR) are being offered by a growing
number of health plans, employers, HIT vendors, and a few select
EHR-enabled physician offices, overall adoption is very limited. In
general, patients can't easily access their personal health information
or populate a PHR with their medical history. Compounding this issue,
Confidentiality, Privacy and Security (CPS) issues are not clearly
understood or addressed by many of the PHR vendors and users

Health care professionals are challenged to keep up with medical
breakthroughs, have insufficient education about genetics in medicine,
and lack tools to bring evidence to the point of care. The use of
genetic information, either in the form of family medical history or
genetic tests, is not integrated into common medical practice. As family
medical history is currently collected in the health record as free
text, it is collected in many different formats, multiples of times, by
the many different doctors and specialists a consumer interacts with
through his or her life. Some risk analysis and prevention messages for
specific disease areas using this information are available, however
widespread development and incorporation of CDS and related analytical
tools into EHRs has not advanced beyond simple messaging and reminders.
While currently over 1000 genetic tests are available for a variety of
diseases, there is not a widely accepted process for vetting and
determining the clinical validity of genetic tests. Appropriate
selection of genetic tests by the provider is hindered by this lack of
information. Reimbursement strategies for the use of genetic information
are generally insufficient to allow for wider adoption in clinical
practice.

The sequence of the human genome, combined with the power of genomic
analysis techniques, tools, and databases, developed by the HapMap
Project, and Genome-Wide Association Studies (GWAS) are rapidly
advancing the basic understanding of disease processes. However,
translation of this information into knowledge that can guide an
individual patient's medical care is realized today on a very limited
basis. The organizational framework for health information is currently
structured to support financial and business transactions and is only
now being considered to support medical knowledge or augment health care
practices. Researchers have limited access to datasets of patient
information because of a lack of an electronic system to perform
post-marketing surveillance of treatment and diagnostics options.
Currently, a foundation exists for privacy, security, and
confidentiality protections but these by themselves may likely be
insufficient to maintain public trust in information sharing as
technology advances and interoperability amongst data sources grows.

***Defining Characteristics of the Health Care System in the Context of
Personalized Health Care***

The various characteristics of the current status and the future vision
of PHC are described below, taking into account the impact the
transition from the current to the future state may have on key
stakeholders' experiences and expectations.

**Consumer's Perspective**

Consumers have little interaction with the health care sector outside of
visits with their providers. By engaging the consumer through a PHR, a
partnership with healthcare providers can be built to reduce or
eliminate duplicate procedures or processes, save healthcare dollars,
and save patients' and providers' time by assisting in preparation for
appointments, to result in the improved health experienced by the
consumer. The PHR should display complete, organized, and quality
patient information, including genetic and environmental risk and
exposure data, that is actionable for decision making. Consistent
privacy protections, the ability to view and correct information, and
role-based access control to patient information should be integral in
the development of PHR systems. Through the PHR, the patient will have
the ability to input family medical history information for review by
the provider at subsequent appointments. Studies to determine the
relative accuracy of patient reported information in the PHR and the
effect that this information has on patient behavior should be
performed. Algorithms that can take into account current medical
information, environmental information, and family medical history
should be developed and evaluated which can then generate personalized
prevention messages. The capacity to securely 'pull' or 'push' relevant
information between relatives' EHRs should be evaluated and the
appropriate patient protections for this determined.

**Provider's Perspective**

The development of interoperable EHR systems could be transformative to
the health care sector. Specific to the concepts of PHC is the
integration of common genetic tests, family medical history, and the
integration of CDS systems into EHR systems. Despite the availability of
a growing number of genetic tests, systematic information on the
evidence base, including analytical validity, clinical validity, and
clinical utility, hinders appropriate selection. Providers will remain
hesitant about embracing these new tests if they lack confidence in the
performance of the tests or their ability to effectively respond to the
results of the tests. Currently, limited evidence and few clinical
practice guidelines and measures are specific to appropriate use of
genetic information to aid in making individual choices about health
interventions. Additionally, robust point-of-care information
availability, the integration of genetic testing guidelines into CDS
systems, or further training in clinical genetics could shift the use of
genetic information from specialty to primary care. While it is possible
that in the future the inexpensive availability of entire genomic
sequence information for the individual patient will negate the use of
individual tests, the evidence development and treatment guidelines to
respond to this information will always be required. Combining the power
of genetic testing information with family medical history information,
when collected in a systematic fashion in the EHR, should allow for
improvements in medical decisions and the transition to a more
preemptive medical practice. This will require the development of robust
CDS systems using validated algorithms based on basic scientific,
outcomes, and effectiveness research. These should be incorporated in
the EHR, where messages are ranked to maximize use of the provider's
time, and further information about the evidence supporting the messages
can be easily accessed to increase providers' confidence in these
systems. This electronic system utilizing CDS should be built on case
studies or therapeutic areas where sufficient evidence exists to develop
and pilot CDS infrastructure and EHRs to demonstrate value.

**Researcher's Perspective**

Development and evaluation of genetic technologies continues to be a
major focus of basic and applied biomedical research. Improved
understanding of the genetic basis of disease and identification of new
biomarkers for disease are driven by large studies to evaluate
haplotypes, Single Nucleotide Polymorphisms (SNPs), and genome wide
associations. Basic information from such federally funded studies
should be made publicly available, with the appropriate privacy
measures, to maximize the return on investment. An integrated system of
health information that captures routine clinical interactions and
outcomes information from different health care delivery systems should
be built based on common data standards and definitions. Appropriate
access to this network by public health and other researchers could
support evidence development, safety assessment, post-market
surveillance, and outcomes research. This all requires that reassurances
are made to the consumer and the provider that personal health
information will be used appropriately, with their knowledge, and for
the benefit of health research.

***Building Blocks for Change: Personalized Health Care Requirements***

To support the envisioned changes to the health care system, a number of
enablers and barriers which transcend any single stakeholder perspective
are described below. In general, discussions to assess progress for the
PHC visions with all stakeholders will ensure widespread engagement of
the entire enterprise.

**Confidentiality, Privacy, and Security**

The introduction of powerful genomic technologies into the health
marketplace has the ability to positively impact us as individuals and
as a society. Genomic information has unmatched potential to identify
and predict the health outcomes of individuals and their families.
Maintaining the public's trust for use of their personal health and
genetic information in electronic health care management systems is key
to maximizing utility and health benefits of new medical genetic
technologies. Improved understanding of the risks associated with
certain types of genetic information, as well as the risks associated
with the development of a Nationwide Health Information Network, need to
be taken into consideration. Likewise, innovation in new security and
privacy methods should be encouraged to prevent misuse of genetic
information and ensure privacy and confidentiality rules apply to all
collection and exchange of health information.

In parallel to these advances in personal health management, large
registries of phenotypic and genotypic information are fueling the
advances in the basic scientific understanding of diseases. To ensure
continued participation in important clinical studies, we need to
reassure the public that their personal health information will be used
appropriately and for the benefit of science. Potential participants in
clinical studies should undergo thorough and understandable consenting
procedures, which clearly establish how their information will be used
for the study and future potential studies. Transparent policies need to
be formulated to manage access to these valuable sources of research
information. An individual's genetic information should only be used to
guide treatment and decision making, and should not be used as the
social basis for employment, health insurance coverage, and
indiscriminate marketing or law enforcement practices.

**Health Information Exchange**

While innovation in technology to collect information is a key step,
data collection alone will not support personalized health care. As
technological capabilities develop across the health care system, better
information based on individual differences will aid in future medical
product evaluations and post-marketing assessments of safety and
efficacy. Exchange of information between the PHR and the EHR will build
the partnership between the consumer and the provider, and the
development and exchange of quality information will allow providers to
compare experiences. Integration of the research enterprise into these
various information managements systems will supply valuable resources
and knowledge. Such integration requires the development of technologies
to ensure privacy and security, the development of contextual access
criteria limits, and the policies to enforce the appropriate use of
these technologies. Regional Health Information Organizations (RHIOs)
have the capacity to serve as local sources of health information,
however, the lack of general oversight and their differential
development in various geographical areas could lead to increased health
disparities. Better communication between the health care delivery and
research enterprises will lead to improved efficiency and innovative
technology development and enable effective information exchange.

**Knowledge Development**

There is an increasing need for and value placed on integrated data sets
and higher quality information about efficacy and safety outcomes. Using
integrated databases, the ability to assimilate and relate experiences
will enable incredible predictive power for outcomes in disease
management. Until now, this could only be modeled at a population level.
Personalized health care should equate not only to an emphasis on more
effective health outcomes but prevention and safer health interventions
as well. These interoperable systems and networks will improve the
practice of medical care and the health of the consumer and drive
increased adoption of these important new technologies. As new knowledge
is developed, transparency of the evidence base and research methods
should be highlighted to ensure the propagation of clinically valid
information.

**New and Innovative Relationships**

New approaches to medical product review, market entry, and product
safety monitoring will require improvements in the integration of
government and industry roles and responsibilities. Many genetic
technologies are based on rapidly developing information, and a flexible
regulatory environment will be necessary to accommodate such rapid
change. Evaluation of the analytical accuracy and clinical validity of
genetic tests should have a multi-stakeholder consensus process for
approval. The relationship of industry and academia in basic R&D will
continue to undergo change driven by shared responsibilities in
technology development and genomic applications reflected in funding
methods and intellectual property management. Currently, the high cost
associated with carrying out many clinical studies limits the types of
investigations of diseases and treatments. New models built on targeted
studies with extensive post-market surveillance and modification of
treatment protocols based on real-time clinical information could
decrease cost while broadening the scope of medical investigations.
Additionally, new relationships may emerge in employer/employee
relationships in supporting personalized health care programs through
incentives and web-based information tools.

As the health care system focuses on disease prevention and preemption
through personalized approaches based on risk assessments, these
advances will drive a need for new reimbursement strategies and other
incentives. Comparative effectiveness studies to demonstrate the value
of new genetic technologies will need to be demonstrated to drive
changes in the reimbursement structure. Personalized health care disease
management approaches will be evidence-based and serve as a catalyst
towards pay-for-performance models. Better information about what works
for which patient will also strengthen cost-effectiveness and quality
measures of care.

[^1]: This date references President Bush's call for most Americans to
    have access to an interoperable electronic health record by 2014, in
    his 2004 Technology Agenda, Promoting Innovation and
    Competitiveness. It is recognized that the implementation of
    personalized health care for comprehensive deployment of
    personalized health care may take many years to achieve.