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By the end of this section, you will be able to:
  • Explain pharmacogenomics
  • Define polygenic

The introduction of DNA sequencing and whole genome sequencing projects, particularly the Human Genome project, has expanded the applicability of DNA sequence information. Genomics is now being used in a wide variety of fields, such as metagenomics, pharmacogenomics, and mitochondrial genomics. The most commonly known application of genomics is to understand and find cures for diseases.

Predicting disease risk at the individual level

Predicting the risk of disease involves screening currently healthy individuals by 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 resides within a single gene defect. Such defects only account for approximately 5 percent of diseases in developed countries. Most of the common diseases, such as heart disease, are multi-factored or polygenic    , which is a phenotypic characteristic that involves two or more genes, and also involve environmental factors such as diet. In April 2010, scientists at Stanford University published the genome analysis of a healthy individual (Stephen Quake, a scientist at Stanford University, who had his genome sequenced); the analysis predicted his propensity to acquire various diseases. A risk assessment was performed to analyze Quake’s percentage of risk for 55 different medical conditions. A rare genetic mutation was found, which 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. The scientists used databases and several publications to analyze the genomic data. Even though genomic sequencing is becoming more affordable and analytical tools are becoming more reliable, ethical issues surrounding genomic analysis at a population level remain to be addressed.

Art connection

The PCA3 test occurs in three steps. In step one, PCA3 mRNA anneals to complementary DNA primers that are attached to beads. In step two, the mRNA is amplified using reverse-transcriptase PCR. In step three, the mRNA is detected using a chemiluminescent probe.
PCA3 is a gene that is expressed in prostate epithelial cells and overexpressed in cancerous cells. A high concentration of PCA3 in urine is indicative of prostate cancer. The PCA3 test is considered to be a better indicator of cancer than the more well know PSA test, which measures the level of PSA (prostate-specific antigen) in the blood.

In 2011, the United States Preventative Services Task Force recommended against using the PSA test to screen healthy men for prostate cancer. Their recommendation is based on evidence that screening does not reduce the risk of death from prostate cancer. Prostate cancer often develops very slowly and does not cause problems, while the cancer treatment can have severe side effects. The PCA3 test is considered to be more accurate, but screening may still result in men who would not have been harmed by the cancer itself suffering side effects from treatment. What do you think? Should all healthy men be screened for prostate cancer using the PCA3 or PSA test? Should people in general be screened to find out if they have a genetic risk for cancer or other diseases?

Questions & Answers

Is the "growth and maintenance phase" in a cell's life cycle when cell division is about to occur
Somto Reply
what is the common name of Basidiomycetes
Ogechukwu Reply
الاجزاء النباتية لابد من تعقيمها قبل زراعتها في القوارير
yes
tariq
whats this?
tariq
do you speak arabic?!
what are bio elements
Shahzad Reply
which are present In Body And such elements Have Great role in our Body there are 16 bio elements that maintains human Body but on The basis of amount There are 6 bio elements present in Concen. of 99% and More Valuable And Highly Concen. element is Oxygent with 65 %
Haider
how je pollution brought about
Lamina Reply
how je pollution brouhgt about
Lamina
non is pollution brouhgt about
Lamina
describe the anatomy of cell division
Ivanovic Reply
Complex traits such as height result from 
Ruben Reply
what is the difference between chloroplasts and mitochondria
Nkalubo Reply
chloroplast in plants and bacterial cell ; mitochondria in animal cells
aung
Diagram of a living cell
Eliza Reply
what is cell
Sule
A cell is the smallest basic unit of life.
John
what's biology
Ogochukwu Reply
this is da study of living and non-living thing in an eco-system
Nutty
it is the study of living and non living organism in the ecology
Akufia
I agree with you dat biology is d study of living nd nonliving features
Winner
why do plants store carbohydrates in form of starch and not glucose?
Nutty Reply
Describe the structure of starch?
Nutty
wat is diffusion
Winner
water is life!.. Discuss?
Nutty Reply
why do plants store carbohydrates in form if starch not glucose!
Nutty
study of living thing
Dennis Reply
what is beyond a liveing cell
Raymond
what is biology
Gabriel Reply
d study of living nd non living thing
Winner
what is vasectomy
Evelyn Reply
The surgical removal of d spermduct
Eniola

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Source:  OpenStax, Biology. OpenStax CNX. Feb 29, 2016 Download for free at http://cnx.org/content/col11448/1.10
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