The Human Genome and Public Health

By Suzanne Vernon, PhD, Scientific Director
The human genome has been sequenced and now the medical and scientific communities are busy trying to understand the billions of “As,” “Ts,” “Gs” and “Cs” (the four molecules that make up DNA) to determine how and why we get sick. Here are a few examples of what the human genome sequence has taught us. We know the gene and the mutation for cystic fibrosis, and we know the inherited genes that increase a women’s risk for breast cancer. This knowledge has improved treatments for these diseases, but there are still no cures.

The greatest challenge is to determine the influence of common genome variation (versus mutation) on public health. Variations in the DNA sequences of humans can affect how we develop diseases and respond to pathogens, chemicals, drugs, vaccines and other agents; in common terms, which straw breaks the camel’s back. These variations, called single nucleotide polymorphisms (SNPs), may be the reason that some camels’ backs are stronger than others.

I recently completed training in Public Health Genomics (PHG). This series of courses offered by Sarah Lawrence College in Bronxville, NY, is designed to prepare us for the impact that rapid advances in human genomics and accompanying technologies will have on public health research, policy and practice. Initially, I took these courses to determine where CFS fit into the PHG picture. What I learned is that we need to establish priorities for genomics research because the current technologies are expensive and laborious. CFS is not a genetic disorder. Rather, CFS is similar to most chronic diseases that result from genome and environment interactions. Much needs to be done before CFS becomes a top PHG priority.

First, we must establish ways to improve CFS phenotype (an observable characteristic) accuracy. Next we must identify the genome (such as familial recurrence) and environment (infections, toxins) characteristics of CFS. Finally, we must document the disability adjusted life years (DALYs) of CFS. This is a measure used by the World Health Organization to estimate global disease burden and is used by most funding agencies to determine the priority of diseases that impact public health.

Once done, genome and environment information can be used to customize – and even individualize – treatment for CFS. CFS studies that examine the interaction of the genome and environment as they relate to each other over time will be important to making CFS a public health priority. In the next edition of our (print) SolveCFS newsletter, we will update you on progress the investigators and the studies we funded are making in our effort to accelerate research and solve CFS.

Suzanne Vernon, PhD, is the Association’s scientific director. She has nearly two decades of experience as a microbiologist.

October 6, 2009