WHAT IS THE IMPACT OF THE

HUMAN GENOME PROJECT

FOR DRUG DEVELOPMENT?
Arman & Fin

What is the Human Genome Project?

The genome is the collective name for all the genes in the
set of chromosomes of an individual, including positions
and sequences of genes on the chromosomes as well as
the base sequences within the genes

The Human Genome Project (HGP) began in 1986 and

initial analysis of the entire set of human genetic
instructions was published in February 2001

Main aims of the HGP:

To:

Identify all the genes in human DNA

Map the positions of the genes on all the human
chromosomes.
Determine the sequences of the chemical base pairs that
make up human DNA
Develop suitable technological tools for analysis and
subsequent use of the genome
Store the DNA information in suitable databases for easy
retrieval and analysis
Make the technological and genome information available to
all interested parties, including biotechnologists,
industrialists, pharmacists and the medical profession
Address the ethical, legal and social issues that may arise
from the project

Outcomes of the HGP

It was initially though that it would take

upwards of 20 years to decipher the full
human genome but due to developments in
bioinformatics, progress was more rapid
In 2001 a working draft of the human
genome was published work continues
with some sections 99.99% accurate
Sequence is immediately published online,
making it a freely available resource to
scientists around the world

Discoveries

The human genome is now thought to be

around 3 200 000 000 bases long and to
contain 20 000 to 25 000 genes
An average human gene is around 3000 bases
in length but great levels of variation occur
Function of most genes still unknown
Around 1.4 million locations where SNPs have
been located
Non-coding sequences make up at least 50%
of the human genome.

Identification of new genes

Many disease genes have been identified,

including the breast cancer gene BCRA2 and the
total colour blindness genes GNGA3 and GNGB3.
Several genes associated with Parkinsons disease
have also been identified including DJ1 and PINK1.
Now possible for a candidate gene that may cause
a particular disease to be located and then
screened for mutations in affected individuals.
Through this method six genes have been
identified to increase susceptibility to Alzheimers
disease.

Identification of new drug targets

Drug target is a specific molecule with which a drug

interacts
Before the draft human DNA sequence was
published there were only 500 drug targets
Scientists have already discovered thousands of
new and potential drug targets.
In 2008 a study identified 80 genes which influence
the formation of the protein alpha-synuclein, which
accumulates in the brains of Parkinsons disease
patients. Investigating the genes may lead to new
drug targets to develop a cure for the disease.

Preventative medicine &

improved drug development
Pharmacogenomics is the study of how genes affect a
person's response to drugs.
In some people a drug works well with few side affects, in
others the same drug is ineffective and has major side affects
This may be due to differences in the individuals genome,
depending on which of the 1.4 million SNPs a person
possesses. Drug prescription is based on a recorded system
of trial and error.
It is hoped that information about a persons genome will
enable doctors to prescribe the right drug at the correct dose.
If people knew about their mutations associated with a
particular disease, they may be able to make lifestyle
changes or opt for preventative treatment in order to reduce
their risk of disease.

Social, moral and ethical issues with this

technology:

Access to information regarding an individuals genome and

how it should be used.
Confidentiality of your genetic information not distributed
without permission.
Genetic discrimination societies views on genetic
information may change and lead to social deprivation of
people with genetic imperfections or cause them to be
stigmatised.
Foetal genetic testing must make potential parents aware of
the accuracy and reliability of the tests and before individuals
give consent for procedures they must be adequately
informed about complex and controversial procedures, and
how to assess genetic information for reproductive decisions
and about the reproductive rights of parents and children.

Social, Moral and ethical issues with this

technology:

Genetic tests must be reliable and interpretable

by medical professionals who must be trained on
implications and capabilities of genetic
information.
Should tests be carried out for adult onset
diseases/ diseases with no treatments?
Arguably not the parents choice/could cause
unnecessary stress, also tests may not reliable.
Genes causing disease are they acceptable for
genetic diversity? is misbehaviour due to genes/
is it able to be controlled? are they necessary?
Publicizing of genomes may lead to
commercialisation of products, rights and patents

Do the issues underpin/undermine

research work?

Creating drugs for specific variations increase research

costs and increase costs of drugs may lead to a two tier
health system where only the wealthier can afford
treatments.
Revealing no treatment for certain variations could be
psychologically damaging for some as they would have no
hope.

These issues seem to partly undermine research work as the

complications involved with genomes and access to the
information coupled with the expense of drug developments
for numerous variations. The lack of certainty in these tests
also seems to be more damaging than useful.