Professional Documents
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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.
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.
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).
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. 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.
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.
Cytogenetics - 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
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.
“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. 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.
understandable language.
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;
10. Research for new insights Monitor the results of human genome
and innovative solutions to epidemiology studies. This provides a population
health problems perspective on 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.
outcomes.