Personal Human Genome Project

Biol 1610

Jayne Schiess

A genome is a complete setup of an organism's genetic makeup. All of the instructions to

build and develop an organism are within their genome and every living being has their own

unique genome. What scientist have done is figured out a way to be able to identify and map out

the genes in a human body in hopes of unraveling the mysteries of the human body. The results

of this project has made its way into the medical field through development of treatments and

research into human genetic illnesses.

The Personal Genome Project UK (PGP - UK) is a researched and citizen based science

hybrid project in support of using the human genome as a way to personalized medicine. The

project has over 10,000 people registered. The participants have given full consent to PGP and

its researchers to publicise their phenotypic health data, as well as other factors that influence a

person's genetics such as ancestry, traits, education, environmental exposures, and many more

factors that have all been found to alter or contribute to the expression of genes . The PGP was

started to change biomedical research, how healthcare is delivered, and to ultimately help a

person's lifestyle choices based on their genetic health predispositions. The idea for this project

was to inform the public about their health and to push for more specialized and personalized

medicine.

Due to the seriousness and vulnerability of the potential findings, researchers and project

legal teams needed to create guidelines on informed consent and the release of information in
order to remain ethical. Consent had to be given by each participant and every one had to be

informed of all the research done and what they would be doing for the experiment. Each step of

the consenting process had to be approved before continuing on.

The participants first had to consent for blood and saliva samples to be collected,

analysed and imputed into the registry, the more samples of genetic information put in the

broader range of data to compare different results. Sharing the results on media accessible apps

increased the popularity and public engaged and gave the project a platform to promote the

possibility of personalized medicine. They posted videos to youtube as well as posts on twitter

and facebook with links to blogs and videos.

As a result, the project was able to summarize the matrix of different types of information

that got generated into different categories. The genome reports, methylome reports,

transcriptome reports , and phenotype reports all were put into the GenoME app. On average

there were over 200 incidental variants that were reported for beneficial and harmful traits. With

63 of the known variants having beneficial traits, for example having higher levels of HDL, and

217 of the known variants having harmful traits. By creating these results and sharing it to the

public, the participants were able to compare and contrast their results with others. Rather than it

being a private discussion with the operators of the experiment. The results were taken with a

positive out come as the people in the studies were able to see that they were not the only ones

with a certain type of outcome, as well as producing many other results such as cancer risks and

any other epigenetics associated with environmental factors.

The hybrid project had enthusiastic reactions and was able to show how successfully

information gathering and data entry can be in order to provide easily accessible records for the
purpose of creating personalized health plans and treatments. This is the path of future medicine

and healthcare.
 Reference
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