3.21 - The Human Genome Project
Discover what the Human Genome Project produced and how reference-genome data support medicine. Weigh a specific medical benefit against scientific uncertainty, privacy and consent.
3.21 — The Human Genome Project
Genome
An organism's genome is its entire DNA.
The Human Genome Project (HGP) was a large international research programme carried out from 1990 to 2003. Its central outcome was the first human reference genome sequence: an ordered record of human DNA that researchers could use as a shared point of comparison. The 2003 sequence covered more than 90% of the human genome, which was close to complete with the available technology but still contained gaps.
The reference was assembled using DNA from several anonymous donors. It was therefore not the complete genome of one named person, the genome of every human, or a list of one universally normal allele at every position.
The project had several connected outcomes:
- a reference sequence and maps that made locations in the human genome easier to study and compare;
- openly shared genomic data that researchers around the world could use;
- improved DNA-sequencing and data-analysis methods;
- greater attention to the ethical, legal, and social questions raised by genomic information.
Sequencing DNA is not the same as explaining it. The HGP did not reveal the function of every DNA sequence, determine every person's phenotype, or provide an immediate cure for genetic conditions. It provided a foundation on which later research and medical applications could be built.
3.21 — Using genome information in medicine
A reference genome becomes useful when DNA from a patient or a tumour is compared with reference data and with variants studied in other people. Researchers and clinicians can identify differences, then combine the genomic evidence with symptoms, family history, environmental factors, and other medical evidence. A DNA difference may be relevant evidence, but it is not automatically the cause of a condition.
| Potential application | Possible medical value | Important limitation |
|---|---|---|
| Supporting diagnosis | A relevant variant may help identify an inherited condition or classify some cancers | A result can be uncertain, and not every condition has an identifiable genetic cause |
| Estimating disease risk | Higher-risk people might be offered monitoring or prevention earlier | Risk is a probability, not a guarantee; multiple genes and environment can contribute |
| Choosing treatment | Genomic information can help select a medicine or dose more likely to work and less likely to cause an adverse reaction | Genome information is only one factor in treatment response |
| Researching disease | Comparing many genomes can locate variants associated with a condition and suggest where to investigate | Association alone does not prove that a variant causes the condition or produce a treatment |
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