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.

In response to the increasing availability of genetic tests the American College of Medical Genetics has issued a policy statement on direct-to-consumer genetic testing. It includes five minimum requirements for any testing protocol:

• A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
• The consumer should be fully informed regarding what the test can and cannot say about his or her health.
• The scientific evidence on which a test is based should be clearly stated.
• The clinical testing laboratory must be accredited by CLIA, the State and/or other applicable accrediting agencies.
• Privacy concerns must be addressed.

Visit http://www.acmg.net for the complete ACMG Policy Statement.

Only a few patients have been tested so far, but the prospect of restoring sight to patients with a specific genetic condition is being tested. You can see the Good Morning America presentation and read news articles about the procedure here.

The inherited retinal disease is called leber congenital amaurosis; it prevents the retina from processing light.

The treatment is very quick--surgery lasting only an hour--but the preparation for the ability to transfer the key gene into the retina has taken over 10 years. It was especially interesting to me to hear that the profiled patient came to the States for her treatment because she couldn't find treatment where she lived. According to an excellent and informative site that gives information on gene therapy: