Phenotypic Characterization: A Novel Methodology to Improve
Wellness through Individualized Risk Prediction
The PhenotypeIT ModelTM
A phenotype (pronounced fee´-noh-type) is the expression of
physical characteristics and biological traits unique to each individual. A
phenotype is determined by the genetic makeup of an individual, influences
from environmental factors, behavioral patterns, including exercise, fitness
and nutritional choices and the interaction of these influences. Phenotypic
characteristics, or traits, are related to an individual’s genetic makeup, and
importantly to the way in which this genetic makeup interacts with the
environment into which an individual is born, grows and matures. Genes
contain information that is needed for the development and expression of
many of traits that comprise one’s phenotype. The process of genetic
expression contributes to the phenotype by providing the basic building
codes and instructions, but these instructions are more often than not greatly
affected by the environment and our choices of lifestyle patterns.
Unique phenotypic traits of each individual are an important source of
information that can be used to predict the potential onset of many important
health conditions, like heart disease, diabetes and osteoporosis. For diseases
like these, a significant proportion of an individual’s health profile is affected
by lifestyle and environmental influences that assume an importance beyond
that of simple genetic makeup. For example, a person may have a genetic
predisposition to mild increases in cholesterol, but ingest excess saturated
fats, and an overall excess of calories with minimal exercise. In such a case,
this person would have a phenotypic expression indicating significant risk of
heart disease above and beyond that of a simple genetic predisposition, and
information regarding cholesterol, fat distribution pattern and specific
nutritional intake together could be used to predict heart disease. Critically,
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these environmental factors, are modifiable, and can be used in sophisticated
modeling paradigms to identify disease before it happens, and in this way to
improve wellness and ultimately to reduce health care costs for the
consumer, insurance organization and employers. An important philosophy
and unique emphasis of the PhenotypeIT platform, is that disease prevention
is much more cost effective than other strategies to reduce health care costs
after diseases have occurred and require expensive management strategies.
Assessing an individual’s phenotypic traits can be a very accurate way
to predict risk of chronic disease. Physical characteristics and traits, such as
weight, height, pattern of fat distribution [central fat accumulation (apple
shape) vs. peripheral fat accumulation (pear shape)], blood pressure and
basic laboratory values can be easily obtained and used for disease risk
prediction. The advantage of this approach, over one that focuses exclusively
on genetic composition, is that these traits may well be modifiable, whereas
genetic composition is fixed. Moreover, no one gene has been discovered yet
for many of the common chronic polygenic disease such as obesity, diabetes
and heart disease which drive health care costs and account for major
morbidity and mortality in our society. In contrast to other health risk
assessment strategies, the PhenotypeIT platform dose not simply utilize
static health information on disease status, but uses risk prediction
algorithms based on dynamic and modifiable characteristics and critically
provides the tools, resources and knowledge to make these changes, through
an individualized web-based portal.
The power of assessing phenotypic expression lies not only in
prediction and improvement in heath risk for the individual, but also in the
aggregation of this data for large organizations, such as employers,
insurance companies and point of contact health care organizations. The
unique ability of PhenotypeIT to provide this aggregated, but de-identified,
data back to these organizations in a HIPAA compliant manner will further
reduce health care costs. This information will allow these organizations for
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the first time to look at group characteristics in terms of predicted diseases,
and offer tailored lifestyle modification and coaching, to meet the needs of
their specific group and individual employees/clients. Generalized programs
that do not match specific data to recommendations for lifestyle prescriptions
are not likely to be effective. In contrast, programs that uniquely develop
and utilize such dynamic information, matching needs to specific lifestyle
programs, will be much more effective in terms of disease prevention and
ultimately cost reduction.
By focusing on critical information provided by the assessment of
simple phenotypic traits, PhenotypeIT has developed a novel, dynamic
strategy to improve wellness, prevent disease and reduce health care costs.
Copyright © 2010 PhenotypeIT, Inc.
Do Not Reprint or Distribute