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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's the function of epiglottis
Ugo Reply
What Is The Other Name For Intestinal Juice?
Justin Reply
what is the largestest planet of the universe
rick Reply
what are the types of cell
Bernard Reply
prokaryotic and eukaryotic
Yazi
prokaryotic cell and eukaryotic cell
Grace
what is the protein found in the blood?
Tobias Reply
globin
Joelia
Globin
globulins
EZRA
globulins
SASMITA
globulins
Grace
what is parasitic movement
Emmanuel Reply
Parasitic movement is a problem for all of us. So is its companion, parasitic tension. Parasitic movement is the excess contraction of muscles that you don't actually need to complete an action.
freya
HW a u
Nyandera
cool
Bigenis
am OK how a u
Ocen
absorption may simply mean utilization of food in the body
Bigenis
what are eukaryotic cells
Thiza Reply
eukaryotic cells which posses a true nucleus that is the DNA is enclosed and covered by a nuclear membrane
Grace
what is the mean of pair of chromosomes
Kazula Reply
hi
Lagos
23 haploid and 23diploid
Patson
how are you studying in this quarantine? .. how are you keeping yourselves motivated?
sivajijadhav @815.com
good morning guyz
Joelia
morning
Kazula
hi
Justin
Good
Angela
tell me if you know what can be used...than reading pls hint me pls 🙏🙏🙏
Angela
what is the important of sex
Aremu Reply
why did human being need sex?
Aremu
because he/she have feelings
Chripine
reproduction...to make more
Yazi
due to active harmon
Manish
One important of sex is to reproduce
Emma
to ensure the countinuty of life
Yusuf
all of you are right
Edith
for sexual satisfaction and birth
Grace
what is momentum
Asiya Reply
The strength or force that allows something to continue or grow stronger or faster as time pass
Emma
What is Centripetal Force?
Justin
centrepital force is the inward force required to keep a body moving with constant speed in a circular path
Yusuf
what is the test for protein
Takii Reply
List four condition necessary for seed germination
Tedeka Reply
water,air(oxygen),light,temperature
Hassan
water, light, oxygen and temperature
lilchris
water, oxygen, light temperature
Mike
water oxygen light and temperature
John
importance of biology
Alabina Reply
importance of boilogy
Alabina
what is soil
Amina Reply
soil is the upper part of the earth
Alabina
what is importance of studying biology
Alabina
soil is the uppermost layer of the earth on which plant grows
Yusuf
soil is defined as the thin surface of the upper most layer of the earth crust on which plants grow
Thanni
soil is the upper part of the earth which plants grow on
Emma
soil is the uppermost layer of the earth in which most of the necessary nutrient are found and serve as habitats for some organisms
Grace
soil is the uppermost layer of the earth in which most of the necessary nutrients are found and serve as habitats for some organisms
Grace
soil is the uppermost layer of the earth in which most of the necessary nutrient are found and serve as habitats for some organisms
Grace
soil is the uppermost layer of the earth in which most of the necessary nutrients are found and serve as habitats for some organisms
Grace
soil is the accumulation of lose weathered materials which covers much of the land surface of the earth
rick

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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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