ELSI: Ethical, legal, and social issues of genomics

Just returned from a conference in Cleveland, Ohio, dealing with the many different aspects and potential effects of sequencing the human genome. I'll write in the next couple of days about items that particularly interested me.

But first, what is genomics?

I hate to admit it, but when I first joined a group at the Utah Department of Health to discuss genomics, I had no idea what it was. Surprising to me was the fact that others gave me quick definitions, but they varied considerably. So, here's some of the ones you might consider:

Wikipedia: Genomics is the study of an organism's entire genome. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of single genes, their functions and roles, something very common in today's medical and biological research, and a primary focus of molecular biology, does not fall into the definition of genomics, unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.

Genetic Alliance Wikigenetics: oops, no summary page yet. I'd better get to work on it.

National Human Genome Research Institute (NHGRI): provides a good description of their focus and some of its components, but never really defines genomics.

National Office of Public Health Genomics (NOPHG): provides lots of connections to information. There's possibly a definition buried in there somewhere.

Enough, already. So what is genomics? Briefly, it's the study of an organism's DNA. Hmmm, should the word then be genomology (genome + -ology)?

A genome sequence, such as the one developed in the Human Genome Project, doesn't typically include any DNA that is found outside the nucleus (the "brain" of a cell)--unless the organism (for example, a bacterium) doesn't have a nucleus. And, in reality, the human genome sequence is not one human, but a collection of unidentified humans--perhaps as many as 100. To be honest, I don't know how they decided whether to put A, T, G, or C in a spot where the human DNAs had different results. Or were they all mixed together and the most common letter put in spot X. I also don't know, for sure, whether DNA outside the nucleus was sequenced separately. DNA also exists in mitochondria, the energy factory of the cell.

Add a prefix, such as pharmacogenomics, and you get "the study of the interactions between the genome and drugs. Now, in this case, DNA in the cell, whether or not in the nucleus, is included. Add another word or words, such as public health genomics, and you get the study of human genomes in populations. Again, who decides what is the "base standard" genome and which are the variants? And, is the new project to study the micro-organisms in the human body part of public health genomics? Yes, I believe so.

So, if you're still with me, you're probably as confused as I was. Here's one possible key: genomics is the study of genomes--that is, all the inherited material in a living or potentially living organism--and the interaction of those genes with their environments--the organisms the genetic material resides in, the surrounding atmosphere, and all external and internal influences. Hmmm, where did environment come into this? Yes, environment is a major part of the study of genomics.

As you can tell, genomics is a great buzzword. Many people can say it, but very few agree on one definition.

Marie Godfrey, PhD

 

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