The interviewer’s embarrassment was rising by the moment. Despite having inserted fresh batteries and tested the tape recorder before the interview, she couldn’t get the machine to work. Almost instantly Victor McKusick, at 75 the acknowledged founder of modern medical genetics, which focuses on the relationship between genes and human disease, dived below his desk. As the time he had carved from his packed schedule ticked away, he started crawling through a maze of computer cords to try connecting the recorder to an electric outlet.McKusick’s approach to the problem suggested his modus operandi: get involved. Indeed, he has thrown himself into four overlapping careers, beginning in cardiology, moving on to medical genetics, serving as physician-in-chief at Johns Hopkins Hospital, and finally helping to organize the international human genome project. Today McKusick spends most of his working hours updating Mendelian Inheritance of Man, a voluminous bible for researchers and doctors concerned with human genetic disorders. McKusick started compiling the text-which catalogs all human genetic sequences linked to particular functions, such as the gene associated with muscular dystrophy-in the early 1960s. At this point the compendium, also accessible online, contains some 9,000 entries. The 11 printed editions serve, as McKusick notes in the hard copy’s 1994 edition, as an “archive of progress in human genetics in the last 30 years.”
In the 1980s McKusick helped to bring about the Human Genome Project as a member of the National Academy of Sciences (NAS) committee that evaluated the proposed project to determine the makeup of our entire code of DNA. During this period he also was a founder and the first president of the Human Genome Organization (HUGO), an international group involved in coordinating the effort. Through 1995 he contributed to a federally sponsored group grappling with the ethical, legal, and social implications of human-genome research. And he indirectly contributed to the infamous O.J. Simpson trial by chairing the NAS committee that evaluated the use of DNA technology in forensic science.
These are just a few of the tasks McKusick has handled over the years (he still sees patients weekly). And he has seemingly done nothing with ennui. “I’ve always enjoyed what I’ve done and approached it with great zest,” he says; reporters who have seen him in action concur. In this spirit McKusick writes about human genetics in a chapter of Emery and Rimoin’s Principles and Practice of Medical Genetics: the field “holds particular fascination because it involves the most fundamental and pervasive aspects of our own species.” He continues, “To have combined with this intellectual and anthropocentric fascination the opportunity to contribute to human welfare and to be of service to families and individuals through medical genetics and clinical genetics is a privilege.” Technology Review senior editor Laura van Dam recently sat down with a functioning tape recorder to ask McKusick where medical genetics is going today.