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Genes go digital: Mendelian Inheritance in Man and the genealogy of electronic publishing in biomedicine

Published online by Cambridge University Press:  20 May 2021

Michael F. McGovern*
Affiliation:
Program in History of Science, Department of History, Princeton University
*
*Corresponding author: Michael F. McGovern, Email: mmcgovern@princeton.edu

Abstract

Mendelian Inheritance in Man (MIM), a computerized catalogue of human genetic disorders authored and maintained by cardiologist and medical genetics pioneer Victor A. McKusick, played a major part in demarcating between a novel biomedical science and the eugenic projects of racial betterment which existed prior to its emergence. Nonetheless, it built upon prior efforts to systematize genetic knowledge tied to individuals and institutions invested in eugenics. By unpacking the process of digitizing a homespun cataloguing project and charting its development into an online database, this article aims to illuminate how the institution-building efforts of one individual created an ‘information order’ for accessing genetic information that tacitly shaped the norms and priorities of the field toward the pursuit of specific genes associated with discernible genetic disorders. This was not by design, but rather arose through negotiation with the catalogue's users; it accommodated further changes as biomedical research displaced the Mendelian paradigm. While great effort was expended toward making sequence data available to investigators during the Human Genome Project, MIM was largely taken for granted as a ‘legacy system’, McKusick's own labour of love. Drawing on recent histories of biomedical data, the article suggests that the bibliographical work of curation and translation is a central feature of value production in the life sciences meriting attention in its own right.

Type
Research Article
Copyright
Copyright © The Author(s), 2021. Published by Cambridge University Press on behalf of British Society for the History of Science

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References

1 Alfred Knudson, review of Mendelian Inheritance in Man, by Victor A. McKusick, Quarterly Review of Biology (1 September 1967) 42(3), p. 426. Knudson's characterization was somewhat hyperbolic, as the number of known Drosophila genes was by a number of counts greater, even into the 1970s, and according to similar catalogues of the time. Theodosius Dobzhansky, review of Genetic Variations of Drosophila melanogaster, by Dan L. Lindsley and E.H. Grell, Science (29 November 1968) 162(3857), p. 993; Bentley Glass, review of Mendelian Inheritance in Man, by Victor A. McKusick, Quarterly Review of Biology (1 December 1975) 50(4), pp. 456–7. On the relationship between experimental biomedicine and natural history, with particular attention to data practices, see Strasser, Bruno J., Collecting Experiments: Making Big Data Biology, Chicago: The University of Chicago Press, 2019CrossRefGoogle Scholar. For older, canonical accounts of the laboratory ‘breeder reactor’, standardization and the rise of model organisms see Kohler, Robert E., Lords of the Fly: Drosophila Genetics and the Experimental Life, Chicago: The University of Chicago Press, 1994Google Scholar; Rader, Karen A., Making Mice: Standardizing Animals for American Biomedical Research, 1900–1955, Princeton, NJ: Princeton University Press, 2004CrossRefGoogle Scholar.

2 See, inter alia, Allen, Garland E., ‘The Eugenics Record Office at Cold Spring Harbor, 1910–1940: an essay in institutional history’, Osiris (1986) 2, pp. 225–64CrossRefGoogle ScholarPubMed; Stern, Alexandra M., Eugenic Nation: Faults and Frontiers of Better Breeding in Modern America, Berkeley: University of California Press, 2005Google Scholar; Thurtle, Phillip, The Emergence of Genetic Rationality: Space, Time, & Information in American Biological Science, 1870–1920, Seattle: University of Washington Press, 2007Google Scholar; Porter, Theodore M., Genetics in the Madhouse: The Unknown History of Human Heredity, Princeton, NJ: Princeton University Press, 2018Google Scholar.

3 On the incomplete transition from eugenics to medical genetics see Comfort, Nathaniel, The Science of Human Perfection: How Genes Became the Heart of American Medicine, New Haven, CT: Yale University Press, 2012CrossRefGoogle Scholar; Bangham, Jenny, Blood Relations: Transfusion and the Making of Human Genetics, Chicago: The University of Chicago Press, 2020CrossRefGoogle Scholar.

4 On the long history of bibliographic indices in the sciences see Alex Csiszar, ‘How lives became lists and scientific papers became data: cataloguing authorship during the nineteenth century’, BJHS (March 2017) 50(1), pp. 23–60. On card catalogues as a distinctive technology of modernity underlying the rise of modern computing see Krajewski, Markus, Paper Machines: About Cards & Catalogs, 1548–1929 (tr. Peter Krapp), Cambridge, MA: MIT Press, 2011CrossRefGoogle Scholar.

5 OMIM: Online Mendelian Inheritance in Man, at www.omim.org, accessed 3 March 2021. For accounts of MIM's history and present challenges by McKusick and the subsequent team responsible for maintaining it see Victor A. McKusick, ‘Mendelian Inheritance in Man and its online version, OMIM’, American Journal of Human Genetics (April 2007) 80(4), pp. 588–604; Joanna Amberger, Carol Bocchini and Ada Hamosh, ‘A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)’, Human Mutation (1 May 2011) 32(5), pp. 564–7.

6 On McKusick's institution building see M. Susan Lindee, Moments of Truth in Genetic Medicine, Baltimore: Johns Hopkins University Press, 2005; Andrew J. Hogan, Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics, Baltimore: Johns Hopkins University Press, 2016; Soraya de Chadarevian, Heredity under the Microscope: Chromosomes and the Study of the Human Genome, Chicago: The University of Chicago Press, 2020.

7 On genetic counselling see Karen-Sue Taussig, Ordinary Genomes: Science, Citizenship, and Genetic Identities, Durham, NC: Duke University Press, 2009; Alexandra M. Stern, Telling Genes: The Story of Genetic Counseling in America, Baltimore: Johns Hopkins University Press, 2012.

8 For a broad, historiographical consideration of handbooks in the sciences, describing a conference in which this paper was first presented, see Creager, Angela N.H., Grote, Mathias and Leong, Elaine, ‘Learning by the book: manuals and handbooks in the history of science’, BJHS Themes (2020) 5, pp. 113CrossRefGoogle Scholar. On catalogues and the political economy of biomedicine in particular, see Grote, Mathias, ‘Total knowledge? Encyclopedic handbooks in the twentieth-century chemical and life sciences’, BJHS Themes (2020) 5, pp. 187203CrossRefGoogle Scholar.

9 Philosopher of biology Rachel Ankeny has analysed how MIM was an early promoter of ‘geneticization’, or the tendency to reduce observable disease entities to isolated genetic components. Rachel A. Ankeny, ‘Geneticization in MIM/OMIM®? Exploring historic and epistemic drivers of contemporary understandings of genetic disease’, Journal of Medicine and Philosophy: A Forum for Bioethics and Philosophy of Medicine (August 2017) 42(4), pp. 367–84. My account, based on extensive work in McKusick's archives, focuses on the information technology behind MIM and situates it within a broader discussion about publication and economies of credit in biomedicine.

10 C.A. Bayly, Empire and Information: Intelligence Gathering and Social Communication in India, 1780–1870, Cambridge: Cambridge University Press, 1996, p. 3; Simon Schaffer, ‘Newton on the beach: the information order of Principia Mathematica’, History of Science (1 September 2009) 47(3), pp. 243–76.

11 Lily Kay's history of molecular biology and Cold War information discourse has provided much fodder for scholarly engagement: Lily E. Kay, Who Wrote the Book of Life: A History of the Genetic Code, Stanford, CA: Stanford University Press, 2000. Further scholarship has complicated this account by considering the relationship between computerization and the databasing and archiving efforts that preceded it: Timothy Lenoir, ‘Shaping biomedicine as an information science’, in Mary Ellen Bowden, Trudi Bellardo Hahn and Robert Virgil Williams (eds.), Proceedings of the 1998 Conference on the History and Heritage of Science Information Systems, Medford, NJ: American Society for Information Science and the Chemical Heritage Foundation, 1999, pp. 27–45; Miguel García-Sancho, Biology, Computing, and the History of Molecular Sequencing: From Proteins to DNA, 1945–2000, Basingstoke: Palgrave Macmillan, 2012; Joseph November, Biomedical Computing: Digitizing Life in the United States (Baltimore: Johns Hopkins University Press, 2012); Hallam Stevens, Life out of Sequence: A Data-Driven History of Bioinformatics, Chicago: The University of Chicago Press, 2013; Strasser, op. cit. (1). For a current perspective on the history of genetic-information-sharing policies and technologies see Robert Cook-Deegan, Rachel A. Ankeny and Kathryn Maxson Jones, ‘Sharing data to build a medical information commons: from Bermuda to the Global Alliance’, Annual Review of Genomics and Human Genetics (31 August 2017) 18(1), pp. 389–415.

12 On the importance of cells, chromosomes and other biological substrates see María Jesús Santesmases and Edna Suárez-Díaz, ‘A cell-based epistemology: human genetics in the era of biomedicine’, Historical Studies in the Natural Sciences (1 February 2015) 45(1), pp. 1–13; de Chadarevian, op. cit. (6); Mathias Grote et al., ‘The molecular vista: current perspectives on molecules and life in the twentieth century’, History and Philosophy of the Life Sciences (4 February 2021) 43(1), p. 16 (preprint).

13 On informal networks of information sharing see Christopher M. Kelty, ‘This is not an article: model organism newsletters and the question of “open science”’, BioSocieties (June 2012) 7(2), pp. 140–68.

14 On speed, access and the politics of genomic information see Michael Fortun, ‘Projecting speed genomics’, in Michael Fortun and Everett Mendelsohn (eds.), The Practices of Human Genetics, Dordrecht: Springer, 1999, pp. 25–48; Stephen Hilgartner, Reordering Life: Knowledge and Control in the Genomics Revolution, Cambridge, MA: MIT Press, 2017.

15 On the question of ‘information overload’ see Ann Blair, Too Much to Know: Managing Scholarly Information before the Modern Age, New Haven, CT: Yale University Press, 2010; Nick Levine, ‘The nature of the glut: information overload in postwar America’, History of the Human Sciences (1 February 2017) 30(1), pp. 32–49. For many nuanced discussions of data practices in the history of science see Elena Aronova, Christine von Oertzen and David Sepkoski (eds.), Data Histories, Osiris, 2nd series (2017) 32.

16 Jon Agar, ‘What difference did computers make?’, Social Studies of Science (1 December 2006) 36(6), pp. 869–907, 872.

17 Grote, op. cit. (8), p. 202.

18 Csiszar, op. cit. (4), p. 25.

19 By way of demonstration, Rachel Ankeny notes that almost 70 per cent of MIM and OMIM can be attributed to McKusick, though without noting that he compiled abstracts directly from specific sources like the Institute for Scientific Information's Current Contents, discussed below. Ankeny, op. cit. (9), p. 374.

20 Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 10th edn, Baltimore: Johns Hopkins University Press, 1992, p. xxxiv.

21 McKusick directly compared his own enumeration to Verschuer's in 1962 while referring to Bell's work only in passing; human geneticist and historian Peter Harper has considered Bell's influence in the cataloging enterprise apart from her own work on linkage analysis. Victor A. McKusick, ‘On the X chromosome of man’, Quarterly Review of Biology (1 June 1962) 37(2), pp. 69–175; Peter S. Harper, ‘Julia Bell and the Treasury of Human Inheritance’, Human Genetics (1 April 2005) 116(5), pp. 422–32.

22 ‘[Laboratory Founding Document]’, c.1904, UCL Special Collections, Galton Laboratory/1/1, Business Papers, Folder 2 of 2, p. 2.

23 Peter S. Harper, A Short History of Medical Genetics, Oxford: Oxford University Press, 2008, pp. 65–9.

24 Historian Daniel Kevles calls this well-worn conflict study ‘one of the most vitriolic disputes in the history of science’, though later analyses have been more measured. Daniel J. Kevles, In the Name of Eugenics: Genetics and the Uses of Human Heredity, 2nd edn, Cambridge, MA: Harvard University Press, 1997, p. 44. Porter argues that Pearson the positivist never rejected Mendelism a priori and largely saw it as compatible, while accounts by Harper and Müller-Wille and Rheinberger both argue that these views were never necessarily incompatible, nor did Mendelism ever fully supplant biometrical methods. Theodore M. Porter, Karl Pearson: The Scientific Life in a Statistical Age, Princeton, NJ: Princeton University Press, 2004, p. 269; Harper, op. cit. (23), p. 66; Staffan Müller-Wille and Hans-Jörg Rheinberger, A Cultural History of Heredity, Chicago: The University of Chicago Press, 2012, pp. 114–15. On gendered labor in the experimental culture of Bateson's plant studies see Marsha L. Richmond, ‘Women in the early history of genetics: William Bateson and the Newnham College Mendelians, 1900–1910’, Isis (1 March 2001), 92(1), pp. 55–90.

25 Kevles, op. cit. (24), p. 105. The camps were eventually unified over a 1918 paper by R.A. Fisher that demonstrated both continuous and discontinuous approaches as compatible with an underlying Mendelian basis. Harper, op. cit. (23), p. 69.

26 Harper, op. cit. (21), pp. 424–6.

27 Jenny Bangham pays particular attention to the material culture and coding schemes circulated with blood collected for the war effort. Bangham, op. cit. (3).

28 Julia Bell, The Treasury of Human Inheritance, vol. 4: Nervous Diseases and Muscular Dystrophies (ed. Ronald Aylmer Fisher and Lionel Sharples Penrose), Cambridge: Cambridge University Press, 1948, pp. 343–6.

29 Bell, op. cit. (28), p. 365. Harper argues that Bell's rejection of nosological ‘lumping’ is a testament to her analytical rigour, especially compared to the individual investigators upon whose data she relied. Harper, op. cit. (21), p. 428.

30 For a history of the pedigree see Robert G. Resta, ‘The crane's foot: the rise of the pedigree in human genetics’, Journal of Genetic Counseling (December 1993) 2(4), pp. 235–60.

31 Bell, op. cit. (28), p. 364.

32 Müller-Hill, Benno, ‘The blood from Auschwitz and the silence of the scholars’, History and Philosophy of the Life Sciences (1999) 21(3), pp. 331–65Google ScholarPubMed; Sheila Faith Weiss, ‘The loyal genetic doctor, Otmar Freiherr von Verschuer, and the Institut für Erbbiologie und Rassenhygiene: origins, controversy, and racial political practice’, Central European History (December 2012) 45(4), pp. 631–68.

33 Arno G. Motulsky, review of Genetik des Menschen, by Otmar Freiherr von Verschuer, American Journal of Human Genetics (March 1960) 12(1), pp. 139–40. Harper discusses how the German medical genetics community courted respectability in the postwar years. Harper, op. cit. (23), pp. 420–2.

34 Otmar Freiherr von Verschuer, Genetik des Menschen: Lehrbuch der Humangenetik, Munich: Urban & Schwarzenberg, 1959, pp. ix–xi.

35 Verschuer, op. cit. (34), p. 139. The numbers in his final table do not add up and he refused to attribute dominant or recessive inheritance to any ‘normal’ features. The lack of enumeration in the text is complicated by the fact that there was no standard format for an entry: some could go on for a number of paragraphs while others got merely a mention.

36 To borrow a phrase from Ian Hacking, ‘Biopower and the avalanche of printed numbers’, Humanities in Society (1982) 5(3–4), pp. 279–95. For a review of the American development of medical genetics out of eugenics that rejects Kevles's ‘reform’ narrative and emphasizes instead continuities between eugenic organizations and medical research see Comfort, op. cit. (3).

37 Lindee, op. cit. (6), p. 81; Hogan, op. cit. (6), p. 35.

38 The personal element of McKusick's authorship is underscored by a dedication to his wife, Dr Anne B. McKusick, at the front of every edition.

39 Strasser, op. cit. (1), pp. 135–46.

40 Krishna R. Dronamraju and Clair A. Francomano (eds.), Victor McKusick and the Development of Medical Genetics, New York: Springer, 2012, pp. 54–55.

41 William B. Bean, ‘Medical genetics 1958–1960’, JAMA (1 December 1962) 182(9), p. 971.

42 McKusick, op. cit. (21). X-linkage was among the best-known genetic markers due to distinctive patterns of inheritance that affected male offspring far more frequently than females.

43 Andrew J. Hogan, ‘The “morbid anatomy” of the human genome: tracing the observational and representational approaches of postwar genetics and biomedicine’, Medical History (July 2014) 58(3), pp. 315–36.

44 Victor A. McKusick, ‘Genealogic and bibliographic applications of computers in human genetics (unpublished)’, 1966, Victor Almon McKusick Collection, the Alan Mason Chesney Medical Archives of the Johns Hopkins Medical Institutions (subsequently VAM), Box 509179, Folder 533, ‘Computers in research’. McKusick's taxonomic strategies invite comparison to those of Linnaeus, who kept quarto sheets of species with their references in the literature, enabling him to experiment with orders by shuffling them. Staffan Müller-Wille and Isabelle Charmantier, ‘Natural history and information overload: the case of Linnaeus’, Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences (March 2012) 43(1), pp. 4–15.

45 Victor A. McKusick, ‘Some computer applications to problems in human genetics (draft)’, 1964, VAM, Box 509169, Folder 527, ‘IBM’; McKusick, ‘Some computer applications to problems in human genetics’, Methods of Information in Medicine (1965) 4(4), pp. 183–9.

46 For an expansive look at McKusick's Amish research see Lindee, op. cit. (6).

47 Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 1st edn, Baltimore: Johns Hopkins University Press, 1966, p. vii.

48 Others, such as James Neel, saw this focus on rare disorders as a handicap for the field, once asking rhetorically in a lecture, ‘in our concern for the individual, have we forgotten to set up the team which has as its concern the species as a whole?’ James V. Neel, Physician to the Gene Pool: Genetic Lessons and Other Stories, New York: J. Wiley, 1994, p. 32.

49 Victor A. McKusick, John A. Hostetler and Janice A. Egeland, ‘Genetic studies of the Amish’, Bulletin of the Johns Hopkins Hospital (1964) 115, pp. 203–22, 215. On ‘stamp collecting’ as a pejorative see Kristin Johnson, ‘Natural history as stamp collecting: a brief history’, Archives of Natural History (1 October 2007) 34(2), pp. 244–58; Strasser, op. cit. (1), p. 257.

50 Victor A. McKusick, ‘On lumpers and splitters, or the nosology of genetic disease’, Perspectives in Biology and Medicine (1969) 12(2), pp. 298–312. On lumping and splitting as a battleground of scientific credibility see Jim Endersby, Imperial Nature: Joseph Hooker and the Practices of Victorian Science, Chicago: The University of Chicago Press, 2008.

51 On McKusick's nosological approach see Andrew J. Hogan, ‘Locating genetic disease: the impact of clinical nosology on biomedical conceptions of the human genome (1966–1990)’, New Genetics and Society (2013) 32(1), pp. 78–96.

52 Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 11th edn, Baltimore: Johns Hopkins University Press, 1994, p. xix.

53 Knudson, op. cit. (1), p. 426.

54 H. Eldon Sutton, review of Mendelian Inheritance in Man, by Victor A. McKusick, JAMA (24 April 1967) 200(4), p. 351.

55 Glass, op. cit. (1), p. 456.

56 John L. Hamerton, ‘Chicago conference 1966: standardization in human cytogenetics’, Journal of Medical Genetics (September 1967) 4(3), p. 226.

57 McKusick, op. cit. (44), pp. 7–8.

58 Jane Olmer and Robert P. Rich, ‘A flexible direct file approach to information retrieval: text edit, search or select and print on an IBM 1401’, in Proceedings of the American Federation of Information Processing Societies 1963 Fall Joint Computer Conference, Baltimore: Spartan Books, 1963, pp. 173–82, 173.

59 International Business Machines Corporation, IBM 1401 Systems Summary, Endicott, NY: IBM Product Publications, 1963, p. 8. Hard disks and magnetic drums were also in use at this time.

60 F.L. Kennedy and M.E. Brown, The Applications of Computers to the APL Storage and Retrieval System, TG-669, Silver Spring, MD: Johns Hopkins University, Applied Physics Laboratory, 1965, pp. 2–4, 7.

61 Richard H. Shepard to Jack G. Goellner, March 1966, VAM, Box 509269, Folder ‘Mendelian Inheritance in Man’.

62 Richard L. Worsnop, ‘Computers in publishing’, in Editorial Research Reports 1968, vol. 2, Washington, DC: Congressional Quarterly, Inc., 1968, pp. 505–22.

63 Jack G. Goellner to Victor A. McKusick, 20 April 1966, VAM, Box 509269, Folder ‘Mendelian Inheritance in Man’.

64 Victor A. McKusick to Jack G. Goellner, 26 April 1966, VAM, Box 509269, Folder ‘Mendelian Inheritance in Man’; McKusick, op. cit. (44), p. 8.

65 The Datapoint 2200 was born of a failed collaboration between the Computer Terminal Corporation and Intel that supported the development of the seminal Intel 8008 microchip. Lamont Wood, ‘Forgotten PC history: the true origins of the personal computer’, Computerworld, 8 August 2008, at www.computerworld.com/article/2532590/computer-hardware/forgotten-pc-history--the-true-origins-of-the-personal-computer.html.

66 Jack G. Goellner to Victor A. McKusick, 22 January 1969, VAM, Box 509269, Folder ‘Mendelian Inheritance in Man’. This goal was only satisfied a few years later using photo-offset images of a computer monitor rather than actual printouts. Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 5th edn, Baltimore: Johns Hopkins University Press, 1978, p. xxiv.

67 Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 3rd edn, Baltimore: Johns Hopkins University Press, 1971, p. xlv.

68 Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 6th edn, Baltimore: Johns Hopkins University Press, 1983, p. ix. On somatic cell genetics see Hannah Landecker, Culturing Life: How Cells Became Technologies, Cambridge, MA: Harvard University Press, 2007.

69 A number of foreign-language editions of MIM were published: a Spanish edition for Mexico in 1976 (translated by Rudolfo Guzmán Toledano), a Russian edition also in 1976 (translated by E.K. Gentera and V.I. Ivanova) and an eventual two-volume Mandarin edition in 1996 (translated by Wilson H.Y. Lo and others). McKusick, op. cit. (5), p. 589. A catalogue of teratogens made use of the MIM software. Thomas H. Shepard, Catalog of Teratogenic Agents, 6th edn, Baltimore: Johns Hopkins University Press, 1989.

70 Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 2nd edn, Baltimore: Johns Hopkins University Press, 1968, pp. 85–113, 398–401. On Dayhoff's Atlas see Strasser, op. cit. (1).

71 J.A. Mitchell, W.D. Loughman and C.J. Epstein, ‘GENFILES: a computerized medical genetics information network. II. MEDGEN: the clinical genetics system’, American Journal of Medical Genetics (1980) 7(3), pp. 251–66.

72 Victor A. McKusick, ‘A multiauthored OMIM medical genetics knowledgebase’, 1 November 1994, VAM, Box 511334, Folder ‘1995’, p. 7.

73 McKusick, op. cit. (44), p. 6.

74 Victor A. McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 4th edn, Baltimore: Johns Hopkins University Press, 1975, p. 224; McKusick, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 7th edn, Baltimore: Johns Hopkins University Press, 1986, p. 511.

75 All of these conditions were marked with an asterisk, McKusick's way of noting a disorder for which ‘the particular mode of inheritance is considered quite certain’. McKusick, op. cit. (44), p. xvii.

76 McKusick, op. cit. (72), pp. 366–8.

77 Myotonic dystrophy (160900) was completely rewritten with major sections on mapping, molecular genetics, population genetics, diagnosis, clinical management, animal models and history. McKusick, op. cit. (52), pp. 985–9.

78 Victor A. McKusick, Medical Genetics, 1958–1960: An Annotated Review, St Louis: Mosby, 1961, p. 79.

79 McKusick, op. cit. (20), p. 747. Cases of cytogenetic and molecular research like this disrupted the idea of genetic traits passed on as stable, informational entities. Judith E. Friedman, ‘Anticipation in hereditary disease: the history of a biomedical concept’, Human Genetics (1 December 2011) 130(6), pp. 705–14.

80 For example, paramyotonia congenita (16830) took on a hash tag in the tenth edition on the basis of ‘evidence that this disorder is due to mutation in the SCN4A gene (170500), the gene coding for the same sodium channel that is mutant in hyperkalemic periodic paralysis (HYPP)’. McKusick, op. cit. (20), p. 825.

81 McKusick, Victor A., Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 9th edn, Baltimore: Johns Hopkins University Press, 1990, p. ixGoogle Scholar.

82 On how the gene mapping workshops required creative database solutions see de Chadarevian, op. cit. (6), pp. 165–71.

83 On the development of the Internet out of heterogeneous networks for defence research see Janet Abbate, Inventing the Internet, Cambridge, MA: MIT Press, 1999. On another effort to bring bibliographic resources and sequence data online in a private–public collaboration, namely through the biotech start-up IntelliGenetics, see November, op. cit. (11), pp. 267–8; Stevens, op. cit. (11), pp. 157–68; Strasser, op. cit. (1), pp. 213–14.

84 D. Harman, Dennis Benson, Larry Fitzpatrick, Rand Huntzinger and Charles Goldstein, ‘IRX: an information retrieval system for experimentation and user applications’, SIGIR Forum (May 1988) 22(3–4), pp. 2–10.

85 ‘OMIM's 50th anniversary symposium and message from past Welch director, Nina Matheson’, Welch Medical Library Blog, at http://blog.welch.jhmi.edu/node/381, accessed 27 February 2018; Robert Cook-Deegan, The Gene Wars: Science, Politics, and the Human Genome, New York: W.W. Norton, 1994, p. 123.

86 ‘Public Law 89-291 – an Act to amend the Public Health Service Act to provide for a program of grants to assist in meeting the need for adequate medical library services and facilities’, 22 October 1965, National Library of Medicine, John E. Fogarty Papers, at https://profiles.nlm.nih.gov/101743404X405. Original repository: Legislative Records, Phillips Memorial Library, Special and Archival Collections at Providence College. This push happened around the same time as the NIH invested heavily in computers for biomedical investigators, an oft-neglected history. November, op. cit. (11).

87 Board of Regents, National Library of Medicine, Long Range Plan, Washington, DC: US Dept of Health and Human Services, 1987, at http://hdl.handle.net/2027/mdp.39015012539709.

88 Peter Pearson, Clair Francomano, Patricia Foster, Carol Bocchini, Peter Li and Victor McKusick, ‘The status of Online Mendelian Inheritance in Man (OMIM) Medio 1994’, Nucleic Acids Research (September 1994) 22(17), 3470–3; Ronald Kotulak, ‘Hopkins establishes genetic database’, The Sun (1837–1992) (Baltimore), 24 July 1990.

89 Uta Francke to Victor A. McKusick, 9 December 1994, VAM, Box 511334, Folder ‘1995’; Phyllis J. McAlpine to Victor A. McKusick, 14 December 1994, VAM, Box 511334, Folder ‘1995’.

90 Colin Semple, ‘The thousand doors to disease’, Genome Biology (18 September 2000) 1, reports2050, at https://doi.org/10.1186/gb-2000-1-3-reports2050.

91 Cover note c. summer 1993, VAM, Box 511128, Folder ‘OMIM – Job Description’.

92 Ada Hamosh , Alan F. Scott, Joanna S. Amberger, Carol A. Bocchini and Victor A. McKusick, ‘Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders’, Nucleic Acids Research (1 January 2005) 33, pp. D514–17.

93 Strasser, op. cit. (1), pp. 251–2.

94 Amberger, Bocchini and Hamosh, op. cit. (5).

95 Csiszar, op. cit. (4), p. 58.

96 McKusick, op. cit. (5), p. 591.

97 There is a long-standing dispute amongst computer scientists and technically inclined philosophers over the epistemological status of ‘knowledge’ versus ‘data’, much of which is an inheritance of efforts to create ‘expert systems’ after the first ‘AI winter’. See, for instance, Feigenbaum, Edward A., ‘Themes and case studies of knowledge engineering’, in Michie, Donald (ed.), Expert Systems in the Micro-electronic Age, Edinburgh: Edinburgh University Press, 1979, pp. 321Google Scholar; McCorduck, Pamela, Machines Who Think: A Personal Inquiry into the History and Prospects of Artificial Intelligence, San Francisco: W.H. Freeman, 1979Google Scholar. OMIM was itself described as an expert system. Schorderet, Daniel F., ‘Using OMIM (On-Line Mendelian Inheritance in Man) as an expert system in medical genetics’, American Journal of Medical Genetics (1 June 1991) 39(3), pp. 278–84CrossRefGoogle ScholarPubMed. For a discussion of efforts toward ‘knowledge engineering’ within the biomedical sciences during the 1960s see Strasser, op. cit. (1), p. 165. For broader philosophical and historical discussion of these issues see Leonelli, Sabina, Data-Centric Biology: A Philosophical Study, Chicago: The University of Chicago Press, 2016CrossRefGoogle Scholar; Jones, Matthew L., ‘How we became instrumentalists (again): data positivism since World War II’, Historical Studies in the Natural Sciences (1 November 2018) 48(5), pp. 673–84CrossRefGoogle Scholar.

98 John Burn, 30 November 1994, VAM, Box 511334, Folder ‘1995’.

99 On the neoliberalization of biomedical research see, inter alia, Rajan, Kaushik Sunder, Biocapital: The Constitution of Postgenomic Life, Durham, NC: Duke University Press, 2006CrossRefGoogle Scholar; Yi, Doogab, The Recombinant University: Genetic Engineering and the Emergence of Stanford Biotechnology, Chicago: The University of Chicago Press, 2015CrossRefGoogle Scholar; Strasser, op. cit. (1).

100 For more on databases and the social and economic relationships they entail see Didier, Emmanuel, ‘Open-access genomic databases: a profit-making tool?’, Historical Studies in the Natural Sciences (1 November 2018) 48(5), pp. 659–72CrossRefGoogle Scholar.