Genetics is the study of individual genes, the DNA sequences that are passed down from parents to children. Genomics addresses all genes, the interrelationships among them, and their combined impact on an individual’s development, disease risk, and response to certain types of treatment.
New discoveries in genetics and genomics are helping to realize the promise of personalized medicine, in which patients receive care that is tailored to their specific needs and genetic makeup. At the same time, however, there are many questions and uncertainties about how best to use the knowledge that we are rapidly gaining.
Our program in genetics research began in 1999 with the Hemochromatosis and Iron Overload Screening Study, which assessed the prevalence of the C282Y/C282Y genotype—the cause of most cases of hemochromatosis in white individuals. A surprise finding was that Asians and Pacific Islanders had the lowest prevalence of hemochromatosis genetic mutations but also the highest blood iron levels. It was an important lesson: a test that works well for whites does not necessarily work well for other racial or ethnic groups. Since then, our research has continued exploring the need to tailor genetic tests and treatments to specific groups and individuals.
CHR investigators have access to and are helping to build a number of resources that facilitate genetics and genomics research. These include the Kaiser Permanente Northwest Tumor Registry, Northwest Tissue Library, and a state-of-the-art biorepository that is part of the Kaiser Permanente Research Bank. The KP Research Bank is poised to become of the world’s major repositories of data on the genetic and environmental factors associated with many diseases.