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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

What is Staining?
Fazal Reply
what is biology
PEACE Reply
Biology is the study of life
Tijani
what is biology
Ysabella Reply
biology is a study of living things
PEACE
Biology is a diverse branch of science that deals with mostly living things
Emmanuel
yes
Swapnil
What happen when inhibit the transcription?
Swapnil
what is the effect of not doing sexual intercourse
SUZAN Reply
what is the mechanism of cellular respiration
Rita Reply
what is enzyme
garry Reply
They are organic catalysts that alter the rate of chemical reactions in the body.
Iyadi
meaning they speed up reaction
Sarni
Enzymes are forms of chemicals that are specialized in their own areas.(eg digestion of food)
Emmanuel
Enzymes are organic catalysts
Ikenna
what is a cell
Praize Reply
Basic Functional Unit of Life
Pascal
what is biology
Mordi Reply
biology is the study of living organisms and their interactions with one another and their environments
Ysabella
which of the following event does not occur during some stages of interface?
Bangha Reply
What is microfilaments
KHalid Reply
What is multicellular organisms
Ovie Reply
these are organisms with more than two cells
Bangha
the process when a male toad fertilizer a female eggs is called what?
Ahrebe Reply
Fertilization
Gyamfi
how did unicellular organisms form plants and animals or is it that different unicellular organisms formed plants and animald
YXNG Reply
yes
James
thanks
YXNG
name the components of faeces
Damali
undigested carbohydrate, fibre
Sandra
what are unicellular organisms..?
Sackson
they have only one cell
Sandra
faeces contains many undigested food materials, after the food has been digested then it will be absorbed in the blood stream for assimilation.,......... but the remains toxic materials are stored in the rectum these toxic materials are the faeces and it contains bile salts, the polysaccharides .
James
nice.
Sandra
thanks
James
unicellular organisms are the ones with only single cell.
James
thanks for your answers guys.
Sackson
Ok
Richard
what is class bryophyta
Emefa Reply
how many stages do we have in glycolysis?
Damali
10 stages
Elisha
the presence of a membrane enclosed nuclosed is a characteristics of what
Addai Reply
eukaryotic cell
captain

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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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