Friday 5th August 2016

Human Genome Project.

Many of my recent posts have been about how and why our brain comes up with such crazy ideas. Sometimes they can be illuminating ideas verging on genius, whilst at other times they are just plain stupid. The answers to these questions can be found in evolution and in our upbringing. Or we can just blame it all on our genes?

It is hard to believe but it was not until Watson and Crick revealed the secret of the DNA double helix in 1953, and won a Nobel Prize for their efforts in 1962, that we were aware of the existence of genes, let alone their function.

The Human Genome Project (HGP) is an international scientific research project with the goal of identifying and mapping all of the genes of the human genome. It remains the world’s largest collaborative biological project, launched in 1990. A ‘rough draft’ of the genome was finished in 2000, and finally declared complete in 2003, two years earlier than planned.

Two of the most significant findings were that humans only had about 20,000 genes, about the same as found in a mouse. The other major finding was that only about 7% of the genes were common to the more advanced lifeforms which have a spine, called vertebrates. Even less were shared with our closer evolutionary relatives such as the monkeys and apes. The other amazing piece of information I discovered is that the sequence of the DNA is stored in databases available to anyone on the Internet. Though knowing what to do with this information is a lot more challenging than finding it!

The sequencing of the human genome could be the most significant discovery of all time, and yet did not conclude with the universal fanfare that it deserved. This project holds benefits for many fields, from molecular medicine to human evolution. So these discoveries will be very valuable to the industries that develop practical applications based upon them.

The work on interpretation and analysis of genome data is still in its initial stages. It is anticipated that detailed knowledge of the human genome will provide new avenues for advances in medicine and biotechnology. Clear practical results of the project emerged even before the work was finished. For example, a number of companies started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses, including breast cancer, hemostasis disorders, cystic fibrosis, liver diseases and many others. Also, the etiologies for cancers, Alzheimer’s disease and other areas of clinical interest are considered likely to benefit from genome information and possibly may lead in the long term to significant advances in their management.

Industry is not noted for sharing its secrets so we should all be grateful to President Clinton when he announced in 2000 that the genome sequence could not be patented, and should be made freely available to all researchers.

The analysis of similarities between DNA sequences from different organisms is also opening new avenues in the study of evolution. In many cases, evolutionary questions can now be framed in terms of molecular biology; indeed, many major evolutionary milestones (the emergence of the ribosome and organelles, the development of embryos with body plans, the vertebrate immune system) can be related to the molecular level. Many questions about the similarities and differences between humans and our closest relatives (the primates, and indeed the other mammals) are expected to be illuminated by the data in this project.

One of the main concerns of most individuals was the fear that both employers and health insurance companies would refuse to hire individuals or refuse to provide insurance to people because of a health concern indicated by someone’s genes.

One of the first books that I read at medical school was Ivan Illich’s Medical Nemesis, and it just might be the most important. His conclusion was that the demand for healthcare would always be infinite. Health care will continue to escalate in cost to a point where it would break economic models, and would need to be rationed, but by whom?

Not much has changed since then, as Rheinberger in 2000 would no doubt have agreed.

“Molecularising disease and their possible cure will have a profound impact on what patients expect from medical help and the new generation of doctors’ perception of illness.” Living and Working with the New Medical Technologies

Much of this content has been adapted from Wikipedia, and the whole brilliant article can be found here.