The concerns of medical information science thus range from the designing and constructing of information systems (a useful but not especially interesting undertaking in the absence of a relevant theory) to the interesting but frequently unrewarded search for fundamental principles.

Marsden S. Blois, Information and Medicine:
The Nature of Medical Descriptions, 1984

The field of biomedical and health informatics has increasingly expanded its scope to a wider and wider range of application domains. Despite this widening scope, informatics applications have not yet had the transformative impact that information technology has had in other non-health domains.

It is my belief that this is because the field has largely ignored the search for fundamental principles that can serve to guide our applications and how we train informatics students.

This reading list is my attempt to highlight the few publications that have addressed fundamental, or foundational issues. It is not intended as a list of historically important biomedical informatics papers. Being based on my own experience and beliefs and (somewhat foggy) memory, it is also sure to leave out important foundational work.

I will be revising this list over time and would appreciate your feedback as part of this process.

Ledley RS, Lusted LB. Reasoning foundations of medical diagnosis. Science. 1959 Jul 3;130(3366):9-21.

Weed LL. Medical records that guide and teach. N Engl J Med. 1968 Mar 14;278(11):593-600.

Blois MS. Information and medicine: the nature of medical descriptions. University of California Press; 1984 Jan 1.

In my opinion this is the most important book ever written about biomedical informatics, because it is one of the few efforts to provide a solid theoretical foundation for the field. Although the book was published in 1984, most of the issues that Blois raises in the book have not yet been addressed and remain highly relevant today.

You can get a free scanned copy at the link above. If you prefer a physical copy, Amazon sometimes has them available here.

Cimino JJ. Desiderata for controlled medical vocabularies in the twenty-first century. Methods of information in medicine. 1998 Nov;37(4-5):394.

Rector AL. Clinical terminology: why is it so hard? Methods of information in medicine. 1999 Dec 1;38(4/5):239-52.

Musen MA. Medical informatics: searching for underlying components. Methods of information in medicine. 2002 Jan 1;41(1):12-9.

Friedman CP. A “fundamental theorem” of biomedical informatics. Journal of the American Medical Informatics Association. 2009 Mar 1;16(2):169-70.

Bernstam EV, Hersh WR, Johnson SB, Chute CG, Nguyen H, Sim I, Nahm MM, Weiner M, Miller P, DiLaura RP, Overcash MM. Synergies and distinctions between computational disciplines in biomedical research: perspective from the Clinical and Translational Science Award programs. Academic medicine: Journal of the Association of American Medical Colleges. 2009 Jul;84(7):964.

Bernstam EV, Johnson TR. Why Health Information Technology Doesn’t Work. The Bridge. 2009;39(3).

Bernstam EV, Smith JW, Johnson TR. What is biomedical informatics? Journal of biomedical informatics. 2010 Feb 1;43(1):104-10.

Kulikowski CA, Shortliffe EH, Currie LM, Elkin PL, Hunter LE, Johnson TR, Kalet IJ, Lenert LA, Musen MA, Ozbolt JG, Smith JW. AMIA Board white paper: definition of biomedical informatics and specification of core competencies for graduate education in the discipline. Journal of the American Medical Informatics Association. 2012 Nov 1;19(6):931-8.