21- Evidence-based medicine supports a standardized application of therapy that
does not take into account variations of response in individual patients. - Clinical trials are geared around taking statistical information about the general
population of patients and applying it to the individual.
Personalized Medicine and Evidence-Based Medicine
Guidelines for evidence-based medicine are generated from the highest level of
evidence from multiple randomized controlled clinical trials to address a particular
clinical problem. It has merits although it differs from personalized medicine.
Randomized clinical trials have specifi c inclusion and exclusion criteria designed to
represent a population broad enough and suffi ciently enriched to attain a requisite
number of end points and demonstrate a statistically and clinically signifi cant dif-
ference in outcome. Development of evidence-based guidelines based on relatively
broad enrolment criteria inhibits the subsequent development of personalized medi-
cine within the enrolment criteria (Goldberger and Buxton 2013 ). Although claimed
are made that evidence-based medicine has the care of individual patients as its top
priority that these two approaches can be compatible, it is diffi cult to reconcile
these concepts.
Role of Genetics in Future Approaches to Healthcare
Genetic Medicine
Genetics plays an important role in almost every disease. Our risk of contracting
common diseases is generally thought to be determined largely by environment and
lifestyle but there is strong epidemiological evidence that genes contribute to overall
risk. In multiple sclerosis, for example, the siblings of an affected person have a
25-fold increase in risk of developing the disease compared with the general popu-
lation. One may consider trauma to be unrelated to genetic factors but there are
genetic factors leading to risk-prone behavior in some individuals and genetic fac-
tors may explain the variations in the body’s response to an equivalent amount of
trauma in various individuals.
Genetics is the study of single genes and their effects whereas genomics is the
study not only of single genes, but also of the functions and interactions of all the
genes in the genome. Sequencing of the human genome has increased the activity in
genetic medicine. Genetic medicine is already beginning to enter the realms of pri-
mary care through the availability of testing for predisposition to certain cancers
and carrier screening and diagnostic tests for common recessive disorders such as
cystic fi brosis and hereditary hemochromatosis. This involvement will broaden as
personalized medicine develops and pharmacogenetics will become increasingly
Role of Genetics in Future Approaches to Healthcare