Genomic Enterprise

After the human genome sequencing in 2001 it became clear that genetic variations play a substantial role in many common diseases. These involve the interaction of several genes from the genome, each conferring only a small incremental risk with environmental and lifestyle factors (also referred as to epigenetics) leading to diseases. Thus, unequivocal identification of these genes and how they interact would be valuable in generating new and more pertinent drug and diagnostic targets. This is the new big challenge in the genetics and genomics field.

My outlook is for significant advances in the genetics and genomics field, especially new targeted therapies for diseases such as cancer that have been developed by using the human genome sequence as a source of information. As we understand more of our genomes and what each interaction of genes mean, we will be able to manage genetic diseases (especially in cases of familial genetic syndromes and cancer predisposition).

There are several drugs in development and in clinical trials in the pharmaceutical and biotech industries, many derived from functional and expression genomics, proteomics and related technical approaches. Yet the targets identified have only rarely been approved by the Food and Drug Administration (FDA) to treat diseases after failing in clinical trials. Even with a low number of genome-based drugs in the pipeline to enter the market, pharma and biotech companies have more than doubled research & development (R&D) expenses. We still have a lot to learn from our genomes to be able to elaborate “smart” drugs for multigenic diseases but the future looks promising as new technologies continue to be developed in both academia and the private sector.

Another field that has emerged and has grown, as we understand more the genetic variations in the human genome and the relationship with diseases is the service of clinical genetic tests. Genetic counseling and DNA tests for several monogenic (eg. Huntington’s disease) and multigenic (eg. familial cancer predisposition) diseases have been developed and are in the market, but there are several ethical issues still under discussion. In the near future genetic tests will be as common as checking the levels of insulin and/or cholesterol after a blood drawn. Our society has to be prepared to face all the advances in genetics and genomics to be able to understand how it will impact our lives.