The human genome project

In a nutshell

The Human Genome Project was a genomics project completed in $2003$ identifying all the genes in the human genome. The discovery of the complete set of genes has had many important uses, particularly in medicine and treating inherited medical conditions. While much research has already been conducted, there is lots yet to be discovered before gene based treatments can be used ethically and safely with patients.

The Human Genome project

The Human Genome Project was completed in $2003$ . It set out to map the complete set of genes that code for proteins in DNA of humans, which is also called the genome of humans. The project found $20,000-25,000$ genes in the human genome. These genes however only make up $1.5\%$ of the genome; the remainder of the genome does not code for anything.

It was initially thought that the remainder of the genome was "junk", however, this part of the genome is important for controlling gene expression. If healthy genes are expressed, then a person may not experience any genetic or inherited medical conditions. However, if mutated genes are expressed, and the mutation makes the gene faulty, a person may experience ill health as a result. Faulty genes are responsible for inherited medical conditions.

Applications of the project

The Human Genome Project has had many important uses :

1.	Improving our understanding of hereditary medical conditions.
2.	Finding new mutations in genes that might be associated with diseases.
3.	Enabling doctors to order genetic tests and alert people that are at risk of particular genetic conditions.
4.	Developing new drug-based treatments tailored to the effects caused by specific genes.
5.	Enabling research into preventative measures that people at risk of certain conditions can take.
6.	Tailoring treatment to individuals.
7.	Studying migration patterns for the current human population.
8.	Studying family trees and linkage.

The future of genomic research

While the Human Genome Project was a significant landmark in biomedical research, there is still a lot to learn. The field of genomics studies the impact of the human genome on health and disease.

The field is also extending to provide gene-based treatments as well as drug-based treatments. Gene therapy is a new technique being developed by scientists in the field of genomics. It can involve:

Introducing a new gene or "turning on" an existing gene which would produce a response that could fight a genetic disease.
Introducing a non-damaged copy of a gene or "turning off" the faulty gene causing the condition, which would either prevent the faulty gene from working.
Fixing the fault that is causing the condition by replacing the faulty base sequence in the gene with the normal base sequence.
Removing only the section of the gene that is causing the condition.

Genomics research is still in early stages and there is a lot yet to be discovered.

Treating genetic conditions

We may be able to identify that a medical condition can be inherited; however, we may not yet have a gene-based or drug-based treatment that is available to everyone. Knowing that there is no treatment available to them might cause more stress for a patient. As they cannot be treated, the cost of life insurance for these individuals may increase, or their employment opportunities may be affected if employers do not want to hire someone who is ill, which increases the patient's financial burden.

Side effects with high impact

Side effects of gene therapies can be life-threatening at times and so patient safety is a big problem. There are currently many medical trials testing lots of different gene therapies, however, patients taking part in these trials must be made aware of the risk of side effects. Some trials are rejected as they are deemed too risky and therefore unethical.

Impact on future generations

While a gene therapy may be useful in curing a patient of their medical condition, it does not prevent them from passing on the inherited condition to their children. This is because gene therapies modify a patient's body cells, not their gametes. Their gametes will still hold the faulty genes. This may put pressure on some people to not have children as they may be at risk of severe medical conditions. Some have argued for changing the genes in gametes, which is known as germline therapy. However, the effects of this are still unknown, and there is concern that it may inadvertently do more harm than good for future generations.

Risks of gene technology

Whilst gene technology seems promising, there are some risks associated with it.

1.	Increased stress about health, especially if treatment is not available for certain genetic conditions.
2.	Financial burden due to increased insurance prices or reduced employment opportunities.
3.	Side effects of gene therapies can be potentially fatal.
4.	The genetic condition can still be passed onto future generations. This may put people under pressure to not have children.
5.	The effects of germline therapy are still unknown and may do more harm than good.