Victor A. McKusick, M.D.: A clinician's clinician

Victor McKusick, MD at Johns Hopkins, Baltimore, MD. Photo courtesy of Keith Weller Photography. Victor McKusick was a medical geneticist par excellence. There is no question that he is one of the founders of modern clinical genetics and that his death leaves an unfillable gap. Victor Almon McKusick was born October 21, 1921 in Parkman, Maine. At the age of 86, he died in his sleep after a year's battle with cancer on July 22, 2008 at his home in Towson, near Baltimore, MD. He was buried on August 8, 2008, after a celebratory memorial service in Baltimore, back in Parkman, Maine. He is survived by his wife and partner, Anne B. McKusick; his identical twin Vincent L. McKusick, Chief Justice of the Maine Supreme Judicial Court for 15 years; and his three children Kenneth Andrew McKusick of Ruxton, Maryland, Rev. Victor Wayne McKusick of Herkimer NY, and Carol Anne McKusick of Urbana, Illinois. Dr. McKusick (we always called him Dr. McKusick, and only when one really got to know him very well did we feel comfortable to say Victor) grew up on a dairy farm in Maine. Early morning chores, an identical twin, and a family of high achievers, probably pushed him to excel and apply himself. He went to the local one room school house for his first 8 years of school, which allowed him the freedom not only to work at his own pace (which became prodigious) but also to rely on his own curiosity and ability to find answers and solve problems. Those who have met his twin brother note how much they looked alike. Victor indicated that Vincent might have been the more assertive twin, but it is hard to imagine anybody with more energy, higher work ethic, or greater insight into disease mechanisms than Dr. McKusick. One often wonders what separates the life experiences of monozygotic twins from each other and helps to distinguish them. In Victor's case he had a chronic infection when he was 16 years old, which required hospitalization at the New England Medical Center in Boston. He claimed that accounted for his interest in medicine, since he had been thinking of going into the ministry prior to that (his family being regular church goers in Maine—a tradition he continued in Baltimore). He had originally planned to become a General Practitioner and return to Maine; however, he was such an outstanding medical student, resident, and fellow that Johns Hopkins simply would not let him go. Having attended Tufts College as an undergraduate, he was able to enter Johns Hopkins Medical School after only 3 years (there were problems filling the class with qualified individuals because of World War II). While in medical school, he developed an interest in internal medicine, then subsequently cardiology, and finally human/medical genetics, as with many clinicians, because of unique instructive patients that crossed his path. Being an exceptional trainee, he received a prestigious fellowship to stay and work at Johns Hopkins Hospital. He avoided direct military service during World War II by entering medical school, but he did receive military financial support for part of his training and then paid it back by working in a laboratory on the Hopkins Homewood campus. During his time as a house officer, he met a lovely young medical student who turned out to be an ideal partner for this hardworking, thrifty, inquisitive young clinician/scientist. They were married while he was Chief Resident in medicine and lived in the “dome” of the hospital (what aficionados call the tower of the old Johns Hopkins Hospital building), and in later years he gave historical tours that included the dome. Anne was an outstanding rheumatologist in her own right, but she couldn't help but become well versed in genetics. She was enormously supportive over the more than 60 years that they were married. A gracious hostess, she could remember the names of past fellows or people met in foreign lands, when Victor's remarkable memory faltered over a particular name or date. Her warmth and kindness are legendary. Although Victor's interest in medical genetics started with internal medicine disorders, such as Peutz-Jeghers syndrome, and cardiologic disorders like Marfan syndrome, his curiosity led him to think about the multiple actions on systems affected by a single gene (pleiotropism). He kept notebooks in his breast pocket where he kept notes on everything that interested him. Part of what interested him was a sense of history of where ideas came from, who were the characters that contributed to the development of this new field of medical genetics, and because of those little notebooks, he could date the occurrence and the responsible individual (always giving due credit). Johns Hopkins Hospital also had a strong sense of historical tradition that led Victor to have special pride in following in Osler's footsteps as Chair of Medicine and working at Osler's desk in the Moore Clinic. VAM, as he was known to his fellows and staff, was enormously supportive of his trainees who came by the hundreds from all over the world. He trained over 300 fellows, most of whom went on to train their own fellows—a very large academic family—not to mention his influence on a generation of internists. As a trainee, he gave them each tasks, assigned them projects from which they learned an enormous amount, and had each fellow usually publish at least one paper and present at at least one meeting. The early sets of fellows all attended the March of Dimes conferences which he initiated to help to delineate human malformation syndromes in the 1960s and 1970s. Since the early 1960s, fellows have also gone to the Jackson Lab Annual Course on Medical and Experimental Mammalian Genetics, which he helped to establish long before others recognized the usefulness of mouse/human homologues. Over 5,000 budding geneticists have attended the Jackson Lab's course over the years. Dr. McKusick started what was the forerunner of today's medical genetic training programs. He organized a journal club and clinic case conferences together with staff and trainees. The journal club (there was no easy access databases in those days) was also a way to review the medical literature and its many specialty journals in order to find articles suggestive of inherited disorders. The exercise of journal club, led to most of the presented articles being summarized and eventually finding their way first into the Annual Review of Medical Genetic and then into MIM (Mendelian Inheritance in Man) via Victor's incredible organizing systems. He used information technology before it was really invented, having computer programmers as part of his staff as early as the 1960s! The clinic conference, where patients were presented and discussed by the fellows taught lessons in uncovering family and natural histories, as well as clinical and diagnostic “pearls”. Many families were pursued by home visits and field trips. Most often the assigned fellow ended with a write-up for publication. Dr. McKusick taught The Art of Medicine, and the life of a clinician/scientist, by modeling it. Dr. McKusick worked like a well oiled clock, up early in the morning and early to bed. In fact, occasionally he would be seen yawning at journal club if it lasted past 9 pm in the evening. In July, he would go to the course at Jackson Labs and in August to the family's summer home in Nova Scotia. Things were still like clockwork on vacation—up early working on MIM, tennis game every afternoon, but the very proper neck tie was missing, and shorts were the attire of the day. If one visited the McKusick's summer home in Nova Scotia, you were not only treated to warm hospitality, a visit to the neighboring zoo, but also expected to help with the various chores and repairs around the house. Victor's memory was legendary and the entries he put in to MIM, and then OMIM (Online Mendelian Inheritance in Man), remained in his own “databank”. When a particular disorder came up, it was like pressing a button and out would come historical details, contributors, the clinical ramifications, the natural history, and the fine details of the disorder. Being in the midst of the feminist movement, I once asked him why he had named it “Mendelian Inheritance in Man” rather than “Mendelian Inheritance in Humans” and Victor, who really did not like conflict, gave a crooked smile and simply did not respond. It was a very sweet and kind characteristic to avoid conflict—it served him well in the era of big egos! It is worth noting that MIM and subsequently OMIM have changed the way in which clinical and medical geneticists work. We used to keep folders of reprints and the academician who had the most experience was the most likely to make a diagnosis. But now, one almost can't see a single patient without going to OMIM to check on the latest publications and information about a specific disorder, because it all changes daily. The quantity of material would be overwhelming if it were not for Dr. McKusick's foresight and hard work. During his lifetime, genetics and particularly medical genetics, went from an esoteric, backwater subject to the very essence of modern biology and medicine. Dr. McKusick was at the forefront of that whole process. What was remarkable was how he identified something as an important idea as soon as he heard about it and then repeatedly reported and highlighted it to others (maybe a forerunner of Internet connectivity). He emphasized the role of genetics in virtually all human disorders and through OMIM made the appropriate references available to all. As is well known, he was also instrumental in helping the Human Genome Project move forward and particularly in including an ethical (ELSI) component. Undoubtedly, Victor's background of farm life, having a very bright twin to measure up to, and being part of a traditional church going family affected his work ethic. He seemed able to contribute to committees and policy making, keep up the entries to OMIM, respond to new developments over many years, and yet he was a very human person. Somewhat shy, but always with a patient's best interest at heart. He loved talking with patients about their lives and particularly enjoyed field trips, such as those to the Amish or to the hinterlands of Maine. With a long term interest in the genetics of short stature, he was made an honorary member of the Little People of America (LPA). For many, many years, he attended the LPA convention, providing counseling and diagnosis. He helped establish their medical advisory board (a model for other support groups). He was enormously supportive of family support groups and wanted to see the ethical issues they raised, addressed systematically and formally. Dr. McKusick has received many honors and awards. He had 21 honorary degrees, which tickled his sense of humor since he had never received a bacculaurate degree himself having entered Johns Hopkins Medical School without a degree from Tufts. He was a member of the National Academy of Sciences, the Institute of Medicine and the American Philosophical Society. He received the James Murray Luck Award of the National Academy of Sciences, the William Allan Award of the American Society of Human Genetics, the Gairdner Award, the Passano Award, the Albert Lasker Award for Excellence in Medical Science, the Bemjamin Franklin Medal of the American Philosophical Society, the Mendel Medal from Villanova University, the National Medal of Science (the U.S.'s highests scientific honor), and recently the Japanese Prize in Medical Genetics and Genomics. He was President of the American Society of Human Genetics and HUGO(Human Genome Organization), Editor of Genomics and Medicine, and primary contributor to MIM and subsequently OMIM (which now has over 18,000 entries). Dr. McKusick worked for more than 60 years at Johns Hopkins Hospital. At John Hopkins School of Medicine, he was Chair of Medicine and Osler Professor of Medicine, then became University Professor of Johns Hopkins School of Medicine at the McKusick-Nathans Institute of Medical Genetics (named, of course, by the Johns Hopkins University in honor of him). He was active until the last week of his life. He had a strong sense of history and his place within it. We have lost a friend, a colleague, and a great clinician scientist, but his contributions, influence, innovations, and spirit live on.

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