CONSUMER ENGAGEMENT AND THE ERA OF PERSONALIZED MEDICINE

Medicine has been digitized; Dr. Eric Topol predicts that genomics will forever reshape
the practice of medicine in his recent book ”The Patient Will See You Now”, comparing the use
of personalized genomic information to the use of Google maps for directions in the form of the
geographical information system (GIS). He compares having your genomic information to
having multiple superimposed and integrated layers of your own GIS map that health care
providers can use to make decisions about your medical care.

Personal genomics for Personalized Medicine, however, goes well beyond a single
category of information. A single test can be informative regarding everything from carrier status
to eye color to paternity. Individual consumers choose to obtain personal genomic information
for any of a broad set of reasons. Many people find personal genomic information valuable
whether it has demonstrated clinical utility or not. They find value in the form of increased
awareness of disease risks, more informed health-related planning, or simply the feeling that
self-knowledge is valuable.

Studies suggest that people find value in personal genetic information even when it isn’t
highly predictive or currently actionable (Sanderson, 2010). Indeed, curiosity is one of the
primary reasons that people sign up to obtain personal genomic information (Kaufman, 2010).

Direct Access to Personal Genomic Information

Personal genomics gives people an opportunity to explore new dimensions of themselves

through their DNA. Although the learning curve can be steep, reports by companies such as
23andMe and FamilyTreeDNA reveal that hundreds of thousands of people have signed up to
receive some kind of personal genetic information directly. Over the last decade, numerous
opportunities for gaining direct access to personal genomic information outside the clinical
context have arisen (McBride et al., 2010). Initially it was paternity testing and genetic ancestry
testing. Since then, nutrition- and health-related genetic tests have become available.

The first individuals to have their ‘personal’ genomes sequenced were Craig Venter, founder of
Celera Genomics, and James Watson, co-discoverer of the DNA double helix. Steve Jobs, co-founder of
Apple Inc., was one of the first 20 people in the world to have his DNA sequenced, for which he paid
$100,000. He also had the DNA of his cancer sequenced, in the hope it would provide information about
more appropriate treatments for him and for other people with the same cancer.
Although the ability to choose to access your own genetic information is still a relatively young
phenomenon, it is thought that one day it could form a key part of our everyday healthcare. Personal
genomics could allow us to optimize our health on a whole different level to improving our diet and doing
more exercise.

Direct access to personal genetic information with health-related interpretations

Made possible beginning in 2007 by companies such as 23andMe, Decode Genetics, and
Navigenics – led to vehement opposition on the part of policy makers, physicians, and
bioethicists (McBride et al., 2010). According to Evans and Green, 2009, Some are concerned
that delivering personal genomic information directly to those tested will cause anxiety or lead to
unnecessary procedures (Evans and Green, 2009). In the US, the American Medical Association
has urged the Food and Drug Administration (FDA) to call for results to be reported first to the
consumer’s designated physician or genetic counselor rather than directly to the consumer
(Maves, 2011).

Genome-wide information stretches the traditional healthcare provider-based delivery of

clinical information well beyond its current capacity. There are several challenges; The sheer
quantity of information, the insufficient number of healthcare providers with relevant training,
and the subset of information that clinicians aren’t prepared to deliver because it has uncertain
clinical value. Some consumers are particularly interested in tests with clinical interpretations, in
which case access to a trained genetics professional is important. The majority (70%) of websites
offering genetic testing recommend, provide, or refer customers to genetic counseling services
(Geransar and Einsiedel, 2008).

Others are most interested in the components of the results that do not have obvious
clinical implications, such as ancestry interpretations, in which case the requirement for a clinical
intermediary seems less convincing.
As genome-wide testing becomes a routine component of clinical care, it is likely that
individuals and their physicians will receive their personal genomic information simultaneously,
through a clinic-based website, as is current practice for clinical laboratory tests in some
healthcare systems.
The previous discussions, described several types of challenges in genomics-based personalized medicine
and some current solutions or practices for dealing with these challenges. In this section, we briefly mention
a few other issues related to genomics-based personalized medicine.

The American Health Information Management Association

As mentioned previously, the analysis of genomic data is critically important in genomics-based

personalized medicine. HIM (Health Information Management) professionals can play a critical role in the
development of personal genomic information management and analysis systems for clinical use because
HIM professionals have firsthand knowledge about how to organize, manage, and report health information
needed by other healthcare providers, and they also have a clear idea of the typical workflow of healthcare
facilities. All of these skills of HIM professionals are critically important for creating a successful clinical
information management system.

HIM professionals can also contribute to patient education when patients are considering taking a
genetic test or providing their personal genomic information to physicians for diagnosis or treatment
purposes. Although it is becoming increasingly clear that personal genomics will have a potential role in
improving the diagnosis and treatment of diseases, patients typically do not receive much education in this
field, and therefore it is difficult for them to make informed decisions. HIM professionals can serve as
patient advocates and explain the benefits and risks related to genetic tests and genomic data analysis. This
explanation is not formal genetic counseling but simply provides general information about those tests and
analyses.

Reimbursement is an important issue that should be carefully considered in order to facilitate wide
implementation of genomics-based personalized medicine. The coverage and analysis officer of the Centers
for Medicare and Medicaid Services (CMS) once said that “whole genome sequencing itself is probably
something that CMS would never cover.”
INSTITUTE OF HUMAN GENETICS (UNIVERSITY OF THE PHILIPPINES)

(PH-BASED)

The Institute of Human Genetics was created on February 25, 1999 to promote
pioneering and socially relevant clinical researches and increase awareness and consciousness of
genetic disorders among physicians, scientists and the public was held in University of the
Phillipines, Manila. It provides services that will allow definitive diagnosis and early detection of
potentially treatable genetic conditions. Ultimately, the Institute aims to be the center for
excellence in comprehensive, quality genetic services, training and research committed to the
improvement of the quality of life of Filipinos.

Laboratories and Units

Biochemical Genetics - a specialized laboratory that renders services for the diagnosis and
clinical management of inborn errors of metabolism (IEM). The laboratory started in 2001.
Locally available tests are offered, as well as overseas tests for some highly specialized
diagnostic tests.

Clinical Genetics and Research - provides comprehensive clinical evaluation, appropriate

therapeutic management and genetic counseling services to families or individuals with or at risk
for an inheritable disorder including patients confirmed to have a disorder included in the
expanded newborn screening panel and pre-natal patients whose congenital anomaly scans are
suggestive of a possible genetic disorder.

Cytogenetics - In 1991, Cytogenetics Laboratory was started at the Medical Genetics Unit of the
University of the Philippines College of Medicine. This unit eventually became the Institute of
Human Genetics, National Institutes of Health, University of the Philippines Manila (IHG-NIH-
UPM) in 1999 that provides comprehensive diagnostic services for postnatal congenital and
neoplastic/oncologic disorders

Hemoglobinopathy Reference Unit - Newborn screening for hemoglobinopathies uses 2

machines: High Performance Liquid Chromatography (HPLC) for the initial screen and
Capillary Electrophoresis (CE) for confirmation. Hemoglobinopathies are best diagnosed using
at least 2 machines or methods. DNA analysis which is mandatory in most cases may be done at
IHG-NIH, UP Manila.

Microarray Core Laboratory - Microarray is a technique used to detect multiple target

sequences in an organism’s genome. It can genotype multiple regions in the DNA
(deoxyribonucleic acid), can be used to measure expression levels of large number of genes
using RNA (ribonucleic acid) simultaneously, and it can also detect changes in DNA
methylation. These applications can be used to: look for biomarkers associated with certain
conditions; seek molecular targets for manipulation; and explain molecular processes related to a
trait.

The Molecular Genetics Unit - is primarily engaged in research that aims to study the basis of
common genetic diseases. Using relevant technology, our studies seek to gain knowledge that
can be translated to the improvement of diagnosis and treatment of diseases that are unique and
common to Filipinos. To this end, our unit also offers services that will aid health researchers in
their studies. We also offer patient services for the screening and diagnosis of particular diseases.

Newborn Screening Center-NIH - Established in 1997, the Newborn Screening Center—NIH

is the first Department of Health (DOH) accredited Newborn Screening Facility in the country
providing the most advanced newborn screening test that can now screen for more than twenty
disorders with Expanded Newborn Screening.

How genomics improved the understanding of diseases. (PH-BASED)

“Genomic knowledge” refers to the information that is obtained from studying the complete
genetic makeup of a cell or organism. In recent years, scientific research in this area has
contributed significantly to our knowledge about the human genome, improving our ability to
understand disease etiology, risk, prevention, diagnosis, and treatment. The ways in which these
areas can be enhanced by genomic knowledge are outlined below. Based on these improved
understandings, genomic tools, and technologies are being developed to enable better health not
just for the individual, but for populations as well.
 PUBLIC HEALTH GENOMICS ACTIVITIES IN RELATION TO THE 10 ESSENTIAL
PUBLIC HEALTH SERVICES.

Essential public health services Public health genomics activities

1. Monitor health status to
identify and solve community
problems
 Assess the distribution and impact of modifiable and
genetic risk factors to determine their contribution to
health status and the burden of disease. A better
understanding of these risk factors could enable more
precise decision-making about resource allocation and
the prioritization and targeting of public health
programs, and lead to new approaches to disease
prevention and treatment.

Promote the development of resources that enable monitoring

of the genomic-related health status of populations. Key
activities could include:

 assessing the inclusion of genomics

information in the collection, management,
and analysis of routine data

 working with national surveys and large

epidemiology groups to maximize potential
from databases

 exploring the potential for disease-specific,

and population-based, registries to be used to
conduct disease surveillance.

2. Diagnose and investigate  Identify and track infectious disease outbreaks

health problems and hazards in using genomic technology. This involves
the community utilizing genomic technology to improve the
speed and efficiency of infectious disease
Essential public health services Public health genomics activities

surveillance and response.

 Assist with the redesign of diagnostic and

laboratory services to incorporate new
genome-based technologies. Examples of these
technologies include massively parallel
sequencing such as whole exome and whole
genome sequencing. There is potential for the
incorporation of these technologies into
diagnostic and laboratory services that can
improve the diagnostic yield from genetic
testing.

3. Inform, educate, and Improve the genomic literacy of the public. This involves
empower people about health providing education materials to communities that teaches
issues them about genetics and genomics in understandable
language.

Empower all stakeholders, including health professionals and

the public, to make informed decisions about the uses of
genetic information with realistic expectations about the risks
and benefits. This includes the provision of relevant
information on the uses of genomic information in disease
prevention, as well as on the associated ethical, legal and
social issues.

Facilitate the integration of genomics into health promotion

and disease prevention programs. This will contribute to
informing and educating people about genomics knowledge
and technologies, as well as its limitations.

4. Mobilize community Foster collaborations between stakeholders.

partnerships to identify and This encompasses capacity building, and
Essential public health services Public health genomics activities

solve health problems developing networks and partnerships between

diverse stakeholders including public policy
makers, patients, the general public, academia,
clinicians, researchers, and industry.

5. Develop policies and plans Policies and plans that could be developed include those
that support individual and relating to:
community health efforts
 the appropriate use of genomic applications,
through standards and guidelines that
recognize the complexity of genomics and
define when and how genome-based
information and technologies should be used
to promote health and prevent disease,
including in the clinical setting;

 equity and accessibility, to assure genomics

knowledge and technologies are accessible
across all segments of the population.

 the use of family health history information to

inform people of the role of inheritance in the
development of disease and identify people at
risk of disease.

 reproductive decision-making, including

prenatal screening, population-based carrier
screening and pre-implantation genetic
diagnosis.

6. Enforce laws and regulations Contribute to:

that protect health and ensure
 laws and regulations for genomic applications.
safety
This could apply to genetic tests, including
Essential public health services Public health genomics activities

direct-to-consumer tests and related issues

such as funding, data protection, insurance
coverage for high-risk individuals and the
prevention of genetic discrimination.

 regulations for laboratories using genome-

based technologies. An example of these
technologies is massively parallel sequencing.

7. Link people to needed health Support the appropriate integration of genomic knowledge
services and assure provision and technologies into all aspects of healthcare and public
health. This may be operationalized in a number of ways,
such as:

 supporting the implementation of evidence-

based genomic applications and discouraging
the use of unvalidated applications, to prevent
the premature use, misuse and overuse of
genomic applications.

 providing expert advice on the commissioning

of services that use genome-based knowledge
and technologies. This may relate to issues
such as the appropriateness of the technologies
for use; and the impact on, or requirements for,
supporting functions such as counseling,
education, and service coordination.

 supporting the incorporation of genomic applications

into existing public health practice, such as: using
pathogen and human genomic technologies to control
and manage communicable diseases; expanding
Essential public health services Public health genomics activities

population-based screening programs to include the

use of genetic information; and targeting interventions
for preventing diseases in population groups based on
genetic information.

 promoting the use of family health history to identify

individuals at risk of disease. Family history is the
most consistent risk factor for all diseases and reflects
the complex interactions between genes, behaviors,
cultures and environments that family members share.
It can be used to identify families at high risk for
disease and could be incorporated into tailored chronic
disease prevention and health promotion messages.

 ensuring equity and accessibility to genomic

applications and services. This is especially important
for population groups that traditionally face barriers to
accessing health services, such as Indigenous and low
socio-economic groups.

8. Assure a competent public  Contribute to training and education in, and

and personal healthcare development of, genomic knowledge, skills and
workforce capacity for health professionals. This is so that:
genomics is appropriately integrated into their work;
they can effectively communicate genetic information;
and they can support informed decision-making by
patients.

 Support the development of workforce capacity in

genomics-related fields. These fields include
bioinformatics, genetic epidemiology, law and ethics,
and health economics as applied to genetics and
Essential public health services Public health genomics activities

genomics.

9. Evaluate the effectiveness,  Evaluate new genome-based knowledge and

accessibility and quality of technologies to determine their evidence base, quality,
health services appropriateness and readiness for implementation in
healthcare and public health practice. The need for
evaluation is based on concerns that the availability of
genome-based tools and technologies, such as genetic
tests, diagnostic equipment and therapies, are being
driven more by technical feasibility and commercial
potential than by evidence-based implementation.
Such evaluations ensure that the benefits of genomic
discoveries are realized efficiently, effectively and
equitably, and are only implemented when it is in the
public's best interest.

 Evaluate the use of genome-based knowledge and

technologies in healthcare and public health practice.
Examples of evaluations include: the current use of
genetic tests and services; the factors that influence
utilization; cost-effectiveness; and the impact on
service, intervention and patient outcomes.

10. Research for new insights  Monitor the results of human genome epidemiology
and innovative solutions to studies. This provides a population perspective on
health problems gene-disease associations, estimating the contribution
of gene variants to the occurrence of disease in groups
and the population overall. Monitoring these studies
can help identify gaps in knowledge at the population
level and could lead to changes in public health
prevention interventions and disease management.
Essential public health services Public health genomics activities

 Support the development of infrastructure for

conducting genomic-related population research.
Patient registries, population data sets and linked
biobanks are key resources enabling the conduct of
large population studies to assess gene-environment
interactions. However, steps must be taken to ensure
that databases reflect genomic reference ranges for the
whole population, inclusive of minority groups, to
avoid inequity of the applications of genomic
technology and knowledge.

 Conduct and monitor translation research. The aim of

translation research is to move appropriate genomic
technologies from the discovery phase to application
in healthcare and public health practice, and to
evaluate its use in practice for improving health
outcomes.

REFERENCES:

https://nih.upm.edu.ph/institute/institute-human-genetics?

fbclid=IwAR3VeHYBMKDWOtDlEZop8ZzHtZZENNIa1Snfvt7k4uCSC3ekD5ocyIIYGIc

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131666/#B63