Special focus on precision medicine informatics and education

This special-focus issue of JAMIA presents topics that (1) illustrate how informatics has become central to important initiatives such as Precision Medicine, and (2) show how training a sophisticated workforce that plays key roles in academia, industry, and government requires robust curricula and broad exposure to a proper educational environment. Precision Medicine Informatics (PMI) refers to a special area of informatics focused on data collection, management, analysis, and development of systems that help patients, study participants, citizen scientists, researchers, and clinicians better understand the determinants of health and disease. An editorial by Frey, Bernstam, and Denny [page 668] presents a set of outstanding articles in PMI. These articles are timely and address many of the issues in the US government’s Precision Medicine Initiative announced last year by President Obama. Informatics education is another area of focus for this issue of JAMIA. Experiences of educators responsible for a wide range of trainees (from high school students all the way to graduate students and postdoctoral fellows) are reported in a representative set of articles briefly described in an editorial by Fenton, Tremblay, and Lehmann [page 812]. The informatics community is highly diverse in background and training, but it is united by common interests and trusted sources of information. JAMIA thus has an important educational goal, and we strive to bring new knowledge to our readers in different categories of articles: Research & Applications, Perspectives, Case Studies, and Reviews. The editorial team emphasizes novelty and is in a constant state of alert to avoid publishing duplicative materials. This is a component of training that could be better emphasized early on and continue through the course of a professional’s career. Over the years, we have prevented publication misconduct that can manifest as plagiarism (including self-plagiarism), fabrication, and ethical misconduct. Another increasing problem is known informally as “salami science”: some authors slice a study into 2 or more articles, sometimes under the justification that journal word limits do not permit full presentation of their work or that the emphasis is on methods in one article and results of its application in another. In JAMIA’s case, since there are no word limits for online appendices, this justification is not valid. The motivation to duplicate, fabricate, or slice research into “minimal publishable pieces” comes from a combination of factors beyond our control. Unfortunately, academic institutions and funding agencies tend to overemphasize number of publications as the main measure of academic production. Academic institutions sometimes start paying attention to publication misconduct only when they have been notified by journal editors. Funding agencies are in an even worse position: they have no means by which to know that a violation occurred or was prevented before publication unless an article is formally retracted. I find it important to emphasize best practices in scientific publishing, because new frontiers in precision medicine and data sharing will challenge current processes. Publication practices must evolve as a result. We are at a turning point in science, where it is acknowledged that reproducibility and transparency in the use of participant data are important indicators of the quality of a study, and informatics can play a major role in facilitating these processes. Because this JAMIA issue is focused on informatics education, many “trainers” will be reading these articles, and many trainees too. Collectively, we need to play our part in ensuring that the informatics community continues to adhere to the highest standards of scientific conduct and leads biomedical research data sharing efforts in ways that could not have been imagined just a few years ago.