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Predictive medicine

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Predictive medicine

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 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 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 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.

Notable types of predictive medicine through health care professionals include:

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.

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