Science Writers’ Seminar on Genome-Wide Association Studies

In March, DCEG scientists helped science writers understand the complexity of genome-wide association studies (GWAS) by holding an NCI-sponsored Science Writers’ Seminar titled “Genome-wide association studies in cancer research.” The seminar was designed to educate journalists on the fundamental concepts of GWAS. “This promising technology enables researchers to identify novel regions of the genome associated with susceptibility to cancer,” commented Margaret A. Tucker, M.D., Director of the Human Genetics Program and Chief of the Genetic Epidemiology Branch (GEB). “The analysis and interpretation of these studies are quite complex, making the results difficult for reporters or the general audience to evaluate. Our researchers and the audience appreciated the interactive nature of the seminar and the opportunity to better communicate the science.” Approximately 40 people attended, including representatives from Science, JNCI, Nature, and Newsweek.

Stephen J. Chanock, M.D., Director of the Core Genotyping Facility (CGF) and Chief of the Laboratory of Translational Genomics (LTG), opened the seminar with a discussion of the history, success, and promise of GWAS. Dr. Chanock explained how the testing of millions of single nucleotide polymorphisms (SNPs) across the genome can uncover regions of a chromosome associated with greater disease risk. “By studying large populations of individuals with and without disease, GWAS can provide powerful indicators as to which SNP variations are associated with various cancers,” Dr. Chanock said. “An in-depth understanding of the biology underlying the contribution of these genetic variations may one day lead to new approaches for therapy or prevention of specific cancers.”

Laufey Amundadottir, Ph.D., an investigator in LTG, discussed downstream analyses, such as fine mapping, to identify the specific loci associated with risk and to determine the biological function of these loci. Sholom Wacholder, Ph.D., a senior investigator in the Biostatistics Branch, provided a tutorial on statistical challenges and cautioned the reporters to carefully evaluate GWAS findings. He also spoke about goals for better predicting individual disease risk by incorporating SNPs into risk assessment models. Patricia Hartge, Sc.D., Deputy Director of the Epidemiology and Biostatistics Program, explained the importance of well-defined study groups, focusing on the value of NCI’s Cohort Consortium and other initiatives in providing the epidemiologic data that may elucidate gene-environment interactions. By using GWAS of pancreas, breast, and prostate cancers as examples, Dr. Hartge discussed the epidemiological considerations in designing GWAS and the extensive partnerships between intramural and extramural researchers. Neil Caporaso, M.D., a senior investigator in GEB, presented his recently published findings on smoking behavior, adding a practical example to the seminar’s overall theme. Dr. Caporaso’s study focused on the biology of smoking behavior, revealing associations with the dopamine pathway and the nicotinic receptor.

The seminar concluded with a tour of the Advanced Technology Center to see the high-tech approaches employed in GWAS. CGF staff, including Amy Hutchinson, M.S., Director of Operations, Laurie Burdett, Ph.D., Lead Project Manager, and Belynda Hicks, M.S., Quality Control Manager, gave a real-time presentation of the technologies and steps used to perform GWAS.

—Hannah Arem, M.H.S..

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