Through a steadily growing program of research in genetics and genomics, our investigators are answering key questions about the causes and underlying biology of disease.

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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.

Featured Studies

CYP2D6 Gene Variants and Effectiveness of Adjuvant Tamoxifen in Breast Cancer

Women with breast cancer that is influenced by the hormone estrogen may benefit from a drug called tamoxifen. However, many women do not respond well to this drug. Genetic factors, such as alterations to a gene called CYP2D6, may affect the response to tamoxifen. We conducted a study in two large populations of women who had had breast cancer to assess whether women with CYP2D6 variants responded differently to tamoxifen treatment. We examined tissue samples from 1,800 women who had received tamoxifen therapy for more than 22 years. The knowledge gained from this study may change how tamoxifen should be used with breast cancer patients with altered versions of the CYP2D6 gene.

 

Sheila Weinmann, PhD
Principal Investigator
Funder: National Cancer Institute

Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting

One in 10 deaths due to cancer is caused by colon cancer. Some forms of colon cancer are genetic: abnormal genes that contribute to cancer can be passed down from parents to their children. Lynch syndrome (also called hereditary nonpolyposis colorectal cancer) is associated with abnormal genes that increase the risk of developing colon cancer at an early age. People with colon cancer can be screened for Lynch syndrome, but many high-risk individuals do not get tested. This study aims to increase the number of people who receive testing for, and genetic counseling about, this form of colon cancer. To this end, we are testing using a new method of identifying people who could benefit from both of these services.

 

Katrina Goddard, PhD
Principal Investigator
Funder: National Cancer Institute

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