86
different fields,
including metagenomics, pharmacogenomics, and mitochondrial genomics. The most well-
known use of genomics is to better understand and treat diseases.
Predicting Disease Risk at the Individual Level
Predicting disease risk entails screening and identifying currently healthy individuals through genome
analysis at the individual level. Intervention with lifestyle changes and drugs
can be recommended before
disease onset. However, this approach is most applicable when the problem arises from a single gene mutation.
Such defects only account for about 5 percent of diseases found in developed countries. Most common diseases,
such as heart disease, are multifactorial or polygenic, referring to a phenotypic characteristic determined by
two or more genes as well as environmental factors such as diet. Stanford University scientists published the
genome analysis of a healthy individual (Stephen Quake, a Stanford University scientist who had his genome
sequenced) in April 2010, the analysis predicted his propensity to acquire various diseases. A risk assessment
was done to analyze Quake’s percentage of risk for 55 different medical conditions. A rare genetic mutation
was found that showed him to be at risk for sudden heart attack. He was also predicted to have a 23 percent
risk of developing prostate cancer and a 1.4 percent risk of developing Alzheimer’s disease. The scientists
analyzed the genomic data using databases and several publications. Even as genomic sequencing becomes
more affordable and analytical tools become more reliable, ethical issues surrounding population-level genomic
analysis remain unresolved. Could such
information, for example, be legitimately
used to charge more or less
for insurance or to affect credit ratings?
Dostları ilə paylaş: