New Editor and New Directions for Genetic Epidemiology


I am pleased and honored to serve as the new Editor-in-Chief of Genetic Epidemiology, the official journal of the International Genetic Epidemiology Society (IGES). Genetic Epidemiology is a peer-reviewed journal publishing articles related to the identification of genes and environmental factors that contribute to human traits. The 2010 impact factor for the journal is 3.988, and it is ranked 12th out of 140 journals in the “Public Environmental and Occupational Health” category and 41st out of 156 journals in the “Genetics and Heredity” category. I am working with our publisher, Wiley-Blackwell to also classify the journal in the “Mathematical and Computational Biology” category. If successful, this would, put the journal at the top of this category.


Genetic Epidemiology publishes a wide range of high-quality original full-length research articles, brief communications, letters to the editor, point/counterpoint or discussion articles, review articles, and book reviews in the fields of statistical genetics, epidemiology, and population genetics. Through a tradition of rigorous peer review, the journal will continue to provide the highest quality articles in these disciplines.

Technological advances in genotyping and sequencing have revolutionized the field of genetic epidemiology. Genome-wide association (GWA) studies have identified several hundred small-to-moderate effects common genetic polymorphisms for complex diseases. Despite the success of GWA studies, the identification of causal variants is a nontrivial task, as most of the single nucleotide polymorphisms (SNPs) that are identified through GWA studies are tagging SNPs. Furthermore, the genetic heritability explained by these variants is typically very small. It is believed that the missing heritability may be explained by the identification of rare variants, gene–gene and gene–environment interactions, and structural variations. Recently, several statistical methods have been developed to associate rare variants with disease (e.g., burden tests and weighted sum tests). However, even if successful, these approaches do not specifically identify which of the possible several hundred rare variants are associated with the disease. Also, not many GWA studies have conducted gene–gene or gene–environment interaction analyses. Such statistical interaction analyses are model- and measurement-scale dependent. Furthermore, a gene typically involves tens or even hundreds of SNPs, but what is typically tested are SNP–SNP or SNP–environment interactions. Thus, at the gene level, gene–gene and gene–environment interaction analyses and their interpretation remain a challenging task. With the availability of platforms to genotype over a million SNPs, we could be testing billions of SNP combinations (two-way, three-way, etc.). Therefore, we may need hundreds of thousands of research subjects to have adequate power to detect higher-order interactions. Finally, very few copy number variants or copy neutral variations have been shown to be associated with complex diseases, which could be due to unreliable methods of identifying such variations.

In the very near future, genetic epidemiologists will be challenged with analyzing the massive amount of data that will be generated as prices for whole-genome sequencing decrease to $1,000 and below per genome. The identification of rare variants may require the sequencing of thousands of genomes to have adequate power and will offer new and exciting research opportunities (e.g., optimal summary and storage of data, modeling, and software development). A few of the topics that will keep us engaged in the next decade include: the identification of rare variants and structural variations; including copy number and copy neutral variations; the identification of different pathways leading to disease causation; the development of novel study designs; efficient approaches to combining genomic, proteomic, microbiomic, and metabolomic data; and using these findings to individualize risk prediction and treatment. Genetic Epidemiology is the ideal journal for publishing scientific contributions related to these advances.


Computational biology and bioinformatics are two of the fastest-growing areas in the biological sciences. To stay abreast of these continually evolving fields, Genetic Epidemiology will begin publishing papers in computational biology, bioinformatics, and software development and evaluations.

Although Genetic Epidemiology is a premier journal, many epidemiologists are not submitting their papers to the journal because they think that it primarily publishes statistical papers. I would like to invite epidemiologists working in the field of genetic and molecular epidemiology to submit their papers. This would achieve the original intent of the journal, which is to have a major impact on the larger communities of genetics and epidemiology, as well as foster continuous research and dialogue among statistical geneticists, epidemiologists, population geneticists, and computational biologists.

I would also like to invite discussion or point–counterpoint papers. A typical format would be to invite a paper that has wide interest for readers, followed by discussion papers from three to four other investigators and the rejoinder from the invited paper's author. Examples of topics for such discussion papers are gene–environment interactions, issues in handling and analyzing whole-genome sequence data, and the roles of population genetics and evolution in genetic epidemiology. Such papers would be thought provoking and would increase both the readership and the visibility of the journal.

Every 2 years or so, I would also like to publish special issues coinciding with birth celebrations of pioneers in the fields of statistical genetics, computational biology, and population genetics. Such special issues would include historical perspectives, recent developments, and, possibly, biographical articles. I also envision a special issue related to computational and modern population genetic approaches for identifying genetic pathways that underlie complex diseases. With the completion of a draft of the 1000 Genomes Project, it is important to continue the integration of modern population genetic ideas to further understand the roles of structural variations and natural selection in genetic contributions to complex diseases. I would like to invite papers that address issues such as the integration of population genetic approaches with complex genetic architectures. I believe such initiatives will attract authors who would otherwise not publish in the journal and further establish Genetic Epidemiology as a leading journal.


Most authors are concerned about publication times—from submission to acceptance and from acceptance to publication and indexing in PubMed. Every effort will be made by the Editor-in-Chief and Editorial Board to effectively streamline the submission and review process while maintaining the integrity of the journal.


The journal will seek ideas and guidance from the newly appointed associate editors and editorial board members (see the list inside the front cover or on the journal web site). The editorial board will also provide guidance to the journal on future directions, opportunities, and journal content. The two associate editors will also handle the review process, including selecting reviewers for a manuscript and making recommendations to the Editor-in-Chief. The editorial board members will serve an initial appointment of 2 years.

Finally, I would like to recognize the preceding editors of the journal–Drs. D.C. Rao, Arvinda Charkravarti, John Muvihill, Daniel Schaid, and Nancy Cox–for stewarding the Genetic Epidemiology to its position as one of the leading journals in this field. I would particularly like to thank Dr. Cox, on behalf of the journal and the International Genetic Epidemiology Society, for her exemplary leadership of the journal over the past 6 years.

The number of investigators in the field of genetic epidemiology has grown substantially over the years (e.g., IGES membership alone has increased by 30% over the past 5 years). The number of quality papers submitted to the journal are increasing, as is its readership. Therefore, I believe the journal is definitely on an upward trajectory. I hope you will join Genetic Epidemiology as a reader, as an author, and as a reviewer to help explore this exciting time in the field. I also hope to hear any ideas that you may have to further increase the profile of the journal.