SEX AND GENDER IN RESEARCH ON GENETICS AND HEALTH
To gain insight into how sex and gender are incorporated into research on genetics and health, we reviewed studies published in 4 top peer-reviewed journals. We reviewed articles published in the American Journal of Public Health, the flagship journal of the American Public Health Association and among the most influential journals in the field of public health.24,25 In addition, we reviewed articles published in Epidemiology and the American Journal of Epidemiology, 2 leading general interest epidemiology journals. Both are also among the most highly ranked public health journals.24,25 We selected epidemiology journals because this field has embraced genetic analysis, as reflected in the subspecialty referred to as genetic epidemiology or molecular epidemiology. As such, we expect articles on genetics and health published in epidemiology journals to reflect scholarship that blends the perspectives and approaches of public health and genetics. In addition to these 3 leading public health journals, we reviewed research articles published in Nature Genetics. This is the top-ranked general interest journal in the field of genetics, and includes articles on genetics and human health.25
A primary reason was that we were interested in reviewing whether and how articles referenced sex and gender in studies on genetics and health, a goal that required the inclusion of articles that did not emphasize sex or gender. By contrast, Patsopoulos et al. 26 evaluated claims of sex differences in genetic associations and reviewed articles that featured sex differences. Accordingly, they searched PubMed for all articles published through a target date that used the term “polymorphism*” together with either “sex” or “gender,” in the title, a search that yielded a manageable set of 215 articles, and further limited this group to 77 articles based on inclusion criteria. If our highest priority was a random selection of articles, we might have begun by searching on a term such as “polymorphism*” alone or with other keywords, but given the large number of articles such a search would retrieve, a sampling of this set would be required. This strategy would have resulted in articles from hundreds of journals in many fields, yielding a summary that might have been of limited use to readers of this journal or to scholars in any 1 field. We emphasize that in selecting these 4 journals it was not our intention to represent research on genetics and human health in a generalizable way. Rather, we selected 4 leading general interest journals that span public health and genetics as examples, and searched them systematically to inform our understanding regarding current practices. Notably, all of these journals are based in the United States.
Full-length research articles published between 2007 and 2011 were eligible for inclusion. We chose this time period because we are interested in current practices. We included only articles that met the following criteria: (1) the analysis was based on a sample of humans and focused on a health outcome, and (2) the conclusions about genetic susceptibilities were based on empirical analyses contained in the study itself. Articles that addressed genetics but were not primarily about a health outcome, such as articles about methodology, were excluded. Similarly, commentary pieces, reports, and systematic reviews (not including meta-analyses) were excluded because they did not include new empirical analyses. Eligibility was assessed by 2 separate reviewers. In the rare event of a disagreement, a third coder assessed eligibility and made the final determination. The final set of articles included 198 articles, 139 of which were published in one of the 3 public health journals. Figure 1 summarizes the process that yielded this set of articles. The number of articles that met the inclusion criteria over this 5-year period differed substantially across journals, with the American Journal of Public Health and Epidemiology publishing a combined total of 13 articles, and the American Journal of Epidemiology and Nature Genetics publishing 126 and 59 articles, respectively.