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Melissa A. Austin, PhD, MS

Professor Emeritus, Epidemiology

Melissa A. Austin is Emeritus Professor in the Department of Epidemiology. During her 25-year academic career at UW, she has held adjunct appointments in the Division of Metabolism, Endocrinology and Nutrition, and the Department of Bioethics and Humanities in the School of Medicine, and was a joint member in the Division of Public Health Sciences at the Fred Hutchinson Cancer Research Center. Dr. Austin is currently a President's Professor at the Center for Alaska Native Health Research, University of Alaska, Fairbanks, Alaska.

Genetic Epidemiology: 20 Years On

"Does your new book have 10 or 11 chapters?" a colleague of mine at the University of Washington (UW) Graduate School asked when he heard about my forthcoming textbook, Genetic Epidemiology: Methods and Applications. "How did you know, it has 11 chapters," I replied. He said he was initially puzzled by the fact that, of the many textbooks he had read by UW faculty, they all 10 or 11 chapters. Then he realized that there are ten weeks during quarter of teaching at UW. Add an introductory chapter, and there are 11 chapters! Sure enough, that describes how this book came about, based on over 20 years of teaching genetic epidemiology, the interdisciplinary field that integrates human genetics and epidemiology, to UW graduate students.

Genetic epidemiology research methods are key to discovering how genetic factors influence health and disease, and to understanding how genes and environmental risk factors interact. Innovations in genomic technology, recent statistical and computational developments, the availability DNA samples and environmental data from large population-based and family studies, and the application of rigorous epidemiologic study designs using these resources, have resulted in rapid advances and growing interest in this field.

"Are you planning a second edition of Fundamentals of Genetic Epidemiology?" I asked Muin Khoury, Director of the Office of Genomics and Public Health at the Centers for Disease Control and Prevention, and the lead author of the now classic textbook published in 1993. That book has been used by countless public health researchers to design, implement, and analyze the data from genetic epidemiology studies. No, he responded, and after 20 years, a new, comprehensive book is urgently needed. As he later wrote in the forward to the new book, "Prior to the genomics era, the field consisted primarily of population and statistical geneticists, and a few epidemiologists interested in searching for the genetic basis of human disease. Today, the thriving field of genetic epidemiology is integrated into clinical and public health research." Terri Beaty, another 1993 author, contributed to the current textbook, writing portions of two chapters. (Bernice Cohen, the third author of the 1993 book passed away in 2011, after a distinguished career at Johns Hopkins University).

Overall, the goal of the new textbook is to provide students with a contemporary working knowledge of the fundamentals of genetic epidemiology research methods. Following an overview of the discipline, the next 6 chapters (weeks!) begin with review key genetic concepts, provide an update on relevant genomic technology such as genome-wide SNP chips and DNA sequencing, and describe methods for assessing the magnitude of genetic influences on diseases and risk factors. Then, the book focuses on research study designs for discovering disease susceptibility genes, including family-based linkage analysis, candidate gene, genome-wide, and rare variant association studies, assessing gene–environment interactions and epistasis (gene-gene interactions), and statistical analyses of data from these studies. Specific applications of each research method are illustrated using a variety of diseases and risk factors relevant to public health. Local Seattle colleagues from the Fred Hutchinson Cancer Research Center and from the UW, many of whom have given guest lectures in the course for several years, made important contributions to these chapters, including Barbara McKnight, Bruce Psaty, Steve Schwartz, and Janet Stanford. Long time colleagues who are too far away to lecture were still willing to help write these chapters, included Terri Beaty (Johns Hopkins University) and Ruth Ottman (Columbia University).

"The book will be out of date as soon as it is published," commented one of the coauthors as he was completing writing his chapter. Although this is inevitable for a field as dynamic as genetic epidemiology, many fundamental concepts remain highly relevant to the field, and can be newly interpreted in the "omics" era. For example, the notion of "heritability" (the proportion of variation in a disease or risk factor attributable to genetic influences) was developed long before the word "genomics" existed, and is now essential to determining the contribution of genetic variants found to be associated with disease in genome-wide association studies (GWAS). The statistical genetic analysis approaches originally developed to examine single major gene effects in families (segregation and linkage analysis) have evolved into methods using exome sequencing data to identify rare variants causing Mendelian diseases. The principles of genetic association analysis first developed in candidate gene studies, including the role of indirect association due to linkage disequilibrium and bias due to population stratification confounding, are being examined in both GWAS and DNA sequencing studies, most recently in studies using extreme trait sequencing. Statistical and biological models designed to describe the complexities of gene-environment interactions and epistasis can now be applied to the extensive data available from large-scale, international, collaborations to identify combinations of genetic, behavioral, dietary, and environmental factors that contribute to health and disease.

The final 4 chapters of the book describe completely new areas of genetic epidemiology that have emerged in the last two decades:

  • Non-Mendelian genetics: Mitochondrial DNA variation, parental and parent-of-origin effects, de novo variation, and epigenetic factors (heritable characteristics of chromosomes other than DNA sequence variation that influence gene expression) are mechanisms that to date have been examined primarily in either rare conditions or subsets of common conditions.
  • Web-based resources: A remarkable array of statistical software, genomic databases containing genotype and phenotype data, and population reference panels with high-throughput SNP genotyping and next-generation sequencing data are either freely available or can be obtained through monitored access.
  • Ethical issues: Because genetic epidemiology studies require the voluntary participation of both patients and healthy individuals, researcher-participant interactions pose a host of important ethical and regulatory concerns that need to be addressed at the earliest stages of designing and implementing a study.
  • Public health and clinical applications: Translating findings from genetic epidemiology research studies to clinical practice and improved public health outcomes can be regarded as a four-phase translational framework: T1: Discovery to candidate health application; T2: Health application to evidence-based guidelines; T3: Guidelines to health practice; and T4: Practice to population health impact.

Once again, both local and distant colleagues with wide ranging expertise contributed to these chapters: Steve Schwartz from the Fred Hutchinson Cancer Research Center, Timothy Thornton, Stephanie M. Fullerton, and Kelly Edwards from the University of Washington, and Marta Gwinn and W. David Dodson, both affiliated with the Office of Public Health Genomics at the Centers for Di

Contact Information
University of Washington
Box 357236
Department of Epidemiology
F-261H Health Sciences Building
Seattle, WA 98195-7236
Tel: 206-616-9286
Fax: 206-543-8525

Research Interests

Dr. Austin has been the PI on several NIH-funded grants from the National Heart, Lung, and Blood Institute (NHLBI) and the National Cancer Institute, and has been a co-investigator on numerous other research grants. Her research continues to focus on the genetic epidemiology of lipoproteins, cardiovascular disease, diabetes, and pancreatic cancer. She has published 118 peer-reviewed articles. She was a member of the NIH EDC-1 study section, served on the NHLBI Institute Advisory Board, and was an Established Investigator Award of the American Heart Association. With funding from the International Atherosclerosis Society, she was a Visiting Professor at University College London and an Honorary Visiting Fellow attached to the Public Health Genetics Unit at the University of Cambridge, England in 2000. She continues as a co-investigator on the Pharmacogenomics Research Network.

Teaching Interests

Beginning in 1997, Dr. Austin served as the founding director of the UW Institute for Public Health Genetics for 14 years, and led the development of four new interdisciplinary graduate degree programs. During 2005-2007, she was the Association Dean for Academic Programs at the UW Graduate School. Dr. Austin taught Genetic Epidemiology (EPI517/PHG511) for over twenty years at the UW, and in 2013 authored the first textbook on genetic epidemiology to be published since 1993. Dr. Austin has mentored many masters and doctoral students, and her former students are now successful faculty members at major universities. She continues to chair a Ph.D. Dissertation Committee in the Department of Epidemiology and to mentor graduate students from several academic programs.

PhD, Epidemiology, University of California (Berkeley) 1985
MS, Biostatistics, University of California Los Angeles 1975


Selected Publications

Ryman T, Austin MA, Hopkins S, Philip J, O'Brien D, Thummel K, Boyer BB. Using exploratory factor analysis of food frequency questionnaires to identify dietary patterns among Yup'ik People. Public Health Nutrition, 2012, doi:10.1017/S1368980012005411.

Koller KR, Wolfe AW, Metzger JS, Austin MA, Hopkins SE, Jolly SE, Ebbesson Swen O.E., Umans JG, Howard BV, Boyer BB. Utilizing Harmonization and Common Surveillance Methods to Consolidate Four Cohorts: The Western Alaska Tribal Collaborative for Health (WATCH) Study Methods. Journal of Circumpolar Health 72:20572, 2013.

Fohner A, Muzquiz LL, Austin MA, GaedigkA, Gordon A, Rieder MJ, Pershouse MA, Putnam EA, Howlett K, Beatty P, Thummel KE, Woodahl EL. Pharmacogenetics in American Indian Populations: Analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes. Pharmacogenetics and Genomics 23:403-414, 2013.

Austin MA, Kuo E, Van Den Eeden SK, Mandelson MT, Kamineni A, Potter JD. Family history of diabetes and panceatic cancer as risk factors for pancreatic cancer: The PACIFIC Study. Cancer Epidemiology Biomarkers and Prevention 22:1913-1917, 2013.

Howard BV, Metzger JS, Koller KR, Jolly SE, Asay ED, Wolfe AW, Hopkins SE, Kaufmann C, Ebbesson SOE, Austin MA, Umnas JG, Boyer BB. All-Cause and Cardiovascular Mortality in Western Alaska Native People: Western Alaska Tribal Collaborative for Health (WATCH). In press, American Journal of Public Health.

Thornton TA, Austin MA. Software and data resources for genetic association studies. A CAB mini-review, in press.



Last Reviewed on 3/24/2014

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