The Application of Genomic Discoveries to Human Health

The National Human Genome Research Institute (NHGRI) developed a vision for the future of genomics research over the course of 18 months and included advocates in many meetings.(1) This blueprint covers three areas of focus: biology, health, and society. Six critically important crosscutting elements are relevant to all three thematic areas: resources; technology development; computational biology; training; ethical, legal and social implications; and education. In the Nature article describing this vision, 15 challenges were proposed that, if accomplished, would revolutionize the way disease is understood, treated, and indeed, prevented. In the presentation that opened the workshop, NHGRI Director Francis Collins highlighted the challenges that were particularly relevant to cancer care:

Genomics and Biology

Knowing the full sequence of the human genome is useful only in as much as it can become a tool for better health. Building upon the foundation laid by the Human Genome Project, an international consortium led by NIH is creating a map of common human genetic variation, called haplotypes, which will speed the search for genes involved in common, complex diseases, such as cancer, diabetes, and heart disease. Collins said the International HapMap Consortium, like the Human Genome Project, is making all of the data publicly available to researchers around the world.

Genomics and Environment

It would be helpful to identify how genetics and the environment interact to increase the risks of common diseases, including cancer. Collins drew specific attention to how the retrospective case-control studies traditionally used for these sorts of analyses have built-in bias related to participants’ selective recall. It would be more reliable to have access to large- scale prospective cohorts that could be followed over the course of many years. Even better still would be to have one very large cohort study in the United States that would gather information on the genetic and environmental factors involved in all major diseases, including cancer. Such a study would also permit observation of interactions between diseases. While Collins said he thinks that such a study would be extremely informative, he cautioned that there would be many logistical problems to solve beforehand.

Genomics to Society

Collins described the need for federal genetic anti-discrimination legislation as particularly urgent. Without uniform, national protections against genetic discrimination, it is difficult to enroll enough participants into research studies involving genetic testing. Collins urged advocates to wisely use their considerable clout in pressing for the passage of such legislation.

In closing, Collins pointed out that the new NIH Roadmap for Medical Research (2) strongly supports public-private partnerships – including advocacy efforts – and he is excited about these partnerships accelerating the future of genomic medicine.