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Predictive Medicine
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Predictive medicine is a field of medicine that entails predicting the probability
of disease and instituting preventive measures in order to either prevent the
disease altogether or significantly decrease its impact upon the patient (such as
by preventing mortality or limiting morbidity). While different prediction
methodologies exist, such as genomics, proteomics, and cytomics, the most
fundamental way to predict future disease is based on genetics. Although
proteomics and cytomics allow for the early detection of disease, much of the
time those detect biological markers that exist because a disease process has
already started. However, comprehensive genetic testing (such as through the
use of DNA arrays or full genome sequencing) allows for the estimation of
disease risk years to decades before any disease even exists, or even whether a
healthy fetus is at higher risk for developing a disease in adolescence or
adulthood. Individuals who are more susceptible to disease in the future can be
offered lifestyle advice or medication with the aim of preventing the predicted
illness. Current genetic testing guidelines supported by the health care
professionals discourage purely predictive genetic testing of minors until they
are competent to understand the relevancy of genetic screening so as to allow
them to participate in the decision about whether or not it is appropriate for
them. Genetic screening of newborns and children in the field of predictive
medicine is deemed appropriate if there is a compelling clinical reason to do so,
such as the availability of prevention or treatment as a child that would prevent
future disease.
The Goal
The goal of predictive medicine is to predict the probability of future disease so
that health care professionals and the patient themselves can be proactive in
instituting lifestyle modifications and increased physician surveillance, such as
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bi-annual full body skin exams by a dermatologist or internist if their patient is
found to have an increased risk of melanoma, an EKG and cardiology
examination by a cardiologist if a patient is found to be at increased risk for a
cardiac arrhythmia or alternating MRIs or mammograms every six months if a
patient is found to be at increased risk for breast cancer. Predictive medicine is
intended for both healthy individuals ("predictive health") and for those with
diseases ("predictive medicine"), its purpose being to predict susceptibility to a
particular disease and to predict progression and treatment response for a given
disease.
A number of association studies have been published in scientific literature that
show associations between specific genetic variants in a person's genetic code
and a specific disease. Association and correlation studies have found that a
female individual with a mutation in the BRCA1 gene has a 65% cumulative
risk of breast cancer. Additionally, new tests from Genetic Technologies LTD
and Phenogen Sciences Inc. comparing non-coding DNA to a woman's lifetime
exposure to estrogen can now determine a woman's probability of developing
estrogen positive breast cancer also known as sporadic breast cancer (the most
prevalent form of breast cancer). Genetic variants in the Factor V gene is
associated with an increased tendency to form blood clots, such as deep vein
thrombosis (DVTs). Genetics tests are expected to reach the market more
quickly than new medicines. Myriad Genetics is already generating revenue
from genetic tests for BRCA1 and BRCA2.
Aside from genetic testing, predictive medicine utilizes a wide variety of tools
to predict health and disease, including assessments of exercise, nutrition,
spirituality, quality of life, and so on. This integrative approach was adopted
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when Emory University and Georgia Institute of Technology partnered to
launch the Predictive Health Institute. Predictive medicine changes the
paradigm of medicine from being reactive to being proactive and has the
potential to significantly extend the duration of health and to decrease the
incidence, prevalence and cost of diseases.
Health Benefits
The future of medicine's focus may potentially shift from treating existing
diseases, typically late in their progression, to preventing disease before it sets
in. Predictive health and predictive medicine is based on probabilities: while it
evaluates susceptibility to diseases, it is not able to predict with 100% certainty
that a specific disease will occur. Unlike many preventive interventions that are
directed at groups (e.g., immunization programs), predictive medicine is
conducted on an individualized basis. For example, glaucoma is a monogenic
disease whose early detection can allow to prevent permanent loss of vision.
Predictive medicine is expected to be most effective when applied to polygenic
multifactorial disease that are prevalent in industrialized countries, such as
diabetes mellitus, hypertension, and myocardial infarction. With careful usage,
predictive medicine methods such as genetic screens can help diagnose
inherited genetic disease caused by problems with a single gene (such as cystic
fibrosis) and help early treatment. Some forms of cancer and heart disease are
inherited as single-gene diseases and some people in these high-risk families
may also benefit from access to genetic tests. As more and more genes
associated with increased susceptibility to certain diseases are reported,
predictive medicine becomes more useful.
Limitations of Predictive Medicine
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On a protein level, structure is less conserved than sequence. Therefore, in many
diseases, having the faulty gene still does not necessarily mean someone will
get the disease. Common, complex diseases in the wider population are affected
not only by heredity, but also by external causes such as lifestyle and
environment. Therefore, genes are not perfect predictors of future health;
individuals with both the high risk form of the gene and those without are all
candidates to get the disease. Multiple factors in the environment, particular
smoking, diet and exercise, infection, and pollution; play important roles and
can be more important than genetic make-up. This makes the results and risks
determined by predictive medicine more difficult to quantify. Furthermore, the
potential false positives or false negatives that may arise from a predictive
genetic screen can cause substantial unnecessary strain on the individual.
Targeting medication to people who are genetically susceptible to a disease but
do not yet show the symptoms of it can be a questionable measure. In large
populations, there is concern that likely most of the people taking preventative
medications would never have developed the disease anyway. Many
medications carry undesirable side effects that high risk individuals must then
cope with. In contrast, several populations-based prevention measures (such as
encouraging healthy diets or banning tobacco advertising) carry a far lower
likelihood of adverse effects and are also less expensive.
Another potential downfall of commercially available genetic testing lies within
the psychological impacts of accessibility to such data. For single-gene
inherited diseases, counseling and the right to refuse a test (the right "not to
know") have been found to be important. However, adequate individual
counseling can be difficult to employ to the potentially large proportion of the
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population likely to be identified as at high risk of common complex disease.
Some people are vulnerable to adverse psychological reactions to genetic
predictions of stigmatized or feared conditions, such as cancer or mental illness.
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