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• W2012283132 abstract "Dr. Charles J. Epstein (“Charlie” to all who knew him) helped to shape not only our understanding of the mechanisms of numerous hereditary diseases, but also the evolution of genetic counseling over a career in genetics that spanned more than five decades. Charlie was a man of intellect, curiosity, humor, and delight in the world around him. He was always comfortable expressing his opinions and equally comfortable when these opinions were challenged. Admirably, he was not only open to changing his mind, but also could clearly articulate how new observations, discussions with others, and personal reflection had led him to see an issue differently. Harvard-educated, both as an undergraduate and medical student, Charlie did his residency in internal medicine at the Peter Bent Brigham Hospital in Boston before joining Chris Anfinson's laboratory at the National Institutes of Health. There he worked on projects that helped prove that the tertiary structure of proteins was determined by their amino acid sequence—a body of research that later earned Anfinson the Nobel Prize. Charlie was first exposed to human genetics in medical school—not as part of any coursework, but rather through a conversation in which Kurt Benirschke, his pathology professor, told him about Tjio and Levan's work on the human karyotype and elucidation of the chromosomal basis of Down syndrome and other aneuploidies (Motulsky and Epstein 2011). Charlie's only formal training in human and medical genetics was the post-doctoral year he spent as a fellow with Arno Motulsky in Seattle. During this time he carefully defined the features and genetics of Werner syndrome, the molecular basis of which was not to be discovered for another 30 years. By the time Charlie returned to the NIH from Seattle, he'd concluded that he did not want to be a protein chemist. Over the next 3 years he worked on several aspects of human biochemical genetics. But during this period he became increasingly intrigued by techniques being used by NIH developmental mouse geneticists to explore mechanisms of early embryonic development. In 1967, Charlie moved to the University of California at San Francisco, where he remained on faculty for the rest of his career. His research on biochemical human genetics made it possible to diagnose several enzymatic diseases prenatally, and it also led to a shift in his clinical focus from adults to children. Charlie used pre-implantation mouse embryos to explore various aspects of early development, elucidating the timing of X-chromosome inactivation, among other accomplishments. With his wife, Lois, a medical school classmate, cancer researcher, and fellow UCSF faculty member, he developed an animal model for Down syndrome, finding that mice with segmental trisomy 16 had many of the same genes triplicated as in human trisomy 21. This discovery enabled Charlie's laboratory to explore the role of gene dosage on development. Charlie did not separate his research and clinical personae and was a committed and effective advocate for Down syndrome. Characteristically, his 2001 ASHG Allan Award acceptance address not only re-capped his research on Down syndrome, but also reflected on his interactions with patients and families affected by the condition, and on tensions between prenatal diagnosis, eugenics, and disability rights (C. J. Epstein 2002). In 2004, Charlie, along with Robert Erickson and Anthony Winshaw-Boris, published the first edition of the definitive “Inborn Errors of Development”. This has been an invaluable resource for geneticists and was voted “best medical book” of 2004 by the American Association of Publishers. However, it was not only in advancing our understanding of the developmental biology of genetic disease that Charlie's work affected medical genetics. He started the first West Coast clinical genetics clinic and was among the pioneers in establishing a team approach to delivering genetics services, not just in academic medical centers, but also in satellite genetics clinics that would increase access for those in outlying areas. In a 1975 American Journal of Human Genetics article, Charlie and several UCSF colleagues described their university-based “counseling group” as consisting of “several physicians with backgrounds in internal medicine, pediatrics, obstetrics and gynecology, basic scientists with Ph.D. degrees, a public health nurse, several technicians and secretaries, and an administrative assistant”. Four physicians and one public health nurse comprised the staffing for the 12 satellite clinics they had established (C. J. Epstein et al. 1975). Note that “genetic counselors”, as we now define ourselves, were absent from Charlie's list of genetics service providers. To some measure this reflects the paucity of graduates of genetic counseling programs at that time—in 1974, only the Sarah Lawrence and Rutgers programs had been in existence long enough to have produced alumni/ae, and those at Berkeley, Irvine, Colorado and Wisconsin were just getting started. However, this omission was also symptomatic of the prevailing belief about who should provide genetic counseling. In 1972, Charlie had presented a paper entitled “Who should do genetic counseling and under what circumstances?” in which he maintained that the term “genetic counselor” should apply only to those who were medically trained, and hence able to actually make the accurate diagnosis on which counseling depended (C. J. Epstein 1973). PhD geneticists, public health nurses, and “genetic associates” were, in his words, “capable of providing valuable assistance and carrying out many of the functions”, but were (emphatically) not counselors. Audrey Heimler, in her oral history of the beginnings of the National Society of Genetic Counselors, describes her dismay in realizing at the first NSGC meeting that this was the view of most medical geneticists in the room—including some who were on advisory boards of genetic counseling programs (Heimler 1997). While the medical genetics community was wrestling with the appropriate title and role for graduates of master's level genetic counseling programs, it was also examining the goals of genetic counseling itself. The American Society of Human Genetics convened an ad hoc committee charged with defining unique elements of genetic counseling that should be addressed in medical and graduate genetics specialty training. Charlie chaired this committee that comprised 10 prominent North American geneticists. A central part of their report is the oft-cited 1975 ASHG definition of genetic counseling, which for the first time shifted the goal of genetic counseling from preventing genetic disease to fostering a process of communication that would help families understand information about the disorder and its inheritance, adjust to its occurrence or risk of recurrence, and chose a course of action consonant with their beliefs and values (“Genetic Counseling” 1975). The report emphasizes the importance of a team approach to genetic counseling—indicating that medical social workers, public health nurses, and “genetic associates” could be helpful in information-gathering, communicating, and managing social problems. From the beginning, genetic counseling students from UC Berkeley had an opportunity to work with Charlie and other members of the UCSF genetics team, which by this time included graduates of genetic counseling programs. In his 1979 forward to Seymour Kessler's Genetic Counseling: Psychological Dimensions, Charlie reflects on a curious consequence of the increased emphasis on the counseling aspect of genetic counseling, namely that he had now been accused of not having the appropriate training and credentials to call himself a genetic counselor (C. Epstein 1979). Given his previous comments in 1972, Charlie appreciated the irony of this accusation, but expressed concern about creating a dichotomy between physicians and counselors. In his words, “All who deal with patients in a genetic counseling situation must be concerned with communication, feelings, and the solving of personal problems—all must be genetic counselors.” The following year saw the formation of the American Board of Medical Genetics—which created no such dichotomy—certifying master's trained genetic counselors as well as their MD and PhD geneticist colleagues, and expecting all to be able to demonstrate not only knowledge of basic and medical genetics but also understanding of counseling principles. Further evidence of recognition and maturation of the genetic counseling profession came during the 1980s, with the incorporation of the National Society of Genetic Counselors and the creation of several new genetic counseling programs. MD and PhD geneticists achieved comparable professional milestones over the next decade with accreditation of genetics fellowship programs by the ABMG and incorporation of The American College of Medical Genetics in 1991. Charlie, (who 12 years later would serve as the College's president) was one of its founding fellows, and that year also was president of the ABMG board. At the time, the ABMG was one of well over 100 “self-designated boards” of varying quality that were not legitimized by the American Board of Medical Specialties. Membership in the ABMS was highly sought after because it not only provided formal recognition of a specialty's importance and validity in mainstream American medicine, but also gave access to committees that determined billing codes and reimbursement or that accredited (and hence might help fund) specialty residencies. In September 1991, the ABMS approved the ABMG's application for membership. Unhappily, their approval was contingent upon the Board's certifying only physicians in the future. After considerable effort, the ABMG was able to prevail upon the ABMS to make an exception that would allow certification of PhD laboratory and medical geneticists, but certifying counselors with a master's degree was non-negotiable. In order for the ABMG to be admitted to the ABMS as its 24th specialty board, a change in the by-laws excluding future counselors from certification would have to be approved by a two-thirds majority of the ABMG diplomates—40% of whom were counselors. As Board president, it fell to Charlie to explain this dilemma, which he did both in forums conducted at Society meetings and in his 1992 American Journal of Human Genetics editorial, “Organized Medical Genetics at a Crossroad” (C. J. Epstein 1992). While he convincingly articulated the opportunity and potential benefits of ABMS membership for medical genetics, he was sincerely concerned about the effect this move would have on the broader genetics community. So also were leaders in the genetic counseling community, including some who made a strong argument in the same AJHG issue against “restructuring” the ABMG (Heimler et al. 1992). Those of us on the ABMG ad hoc committee charged with making plans for a new genetic counseling board that would be formed if the vote was to separate were also deeply concerned. It was a painful time for medical genetics, and one that Charlie reflected on repeatedly over the years—in his review of his 7 years as the editor of AJHG (C. J. Epstein 1993), in an article on medical genetics in the era of genomics (C. J. Epstein 2006), and just last fall, in his acceptance of the Victor A. McKusick Leadership Award of the ASHG (Motulsky and Epstein 2011). He clearly had come to value and respect counselors as equal partners in the enterprise of medical genetics. We both got to know Charlie in our roles as directors of the University of California, Irvine and the University of Michigan genetic counseling programs. Like many of our colleagues, we had initially been concerned that such a prominent and thoughtful member of the medical genetics community was not supportive of the emerging profession of genetic counseling. However, over the years, we got to know Charlie thorough interactions at meetings and during the critical period of the late 1980s and early 1990s, as fellow directors of ASHG or ABMG. Charlie deeply believed that ensuring the future of medical genetics depended on ABMS membership, but he also possessed an unwavering commitment to fair and open debate. In true genetic counselor fashion, he was adamant about making sure that the genetics community was fully informed about the constraints that the ABMS had placed on membership and that ABMG diplomates had ample opportunity to discuss the pros and cons of ending ABMG's role in certifying counselors and forming a second counseling board. During this fractious time, Charlie made himself readily available to any board member or diplomate who wanted to discuss either the “big picture” impact on genetics or just nuances of specific issues around the transition. He was particularly concerned about the effect of the potential outcome on genetic counselors. Charlie had come to greatly respect our field and its practitioners and to appreciate the critical and irreplaceable role that we played in medical genetics. He remained a strong and vocal proponent and fan of the field of genetic counseling for the rest of his life. While advocating our own position, the human genetics community must be ever mindful that we do not function in isolation and have responsibilities that transcend the purely professional. We need to educate the public, at every level, about what human genetics and geneticists are doing and hope to be able [to] do. We must continue to be—and, if anything, become more—involved in the social and ethical debate that increasingly surrounds everything that we do. We need to be cognizant of the fact that we constitute just one element in the societal debate—which, hopefully, will be a rational one—about the human applications of genetic knowledge. Important decisions about these applications certainly will not and should not be ours alone to make. The genetic counseling community is in debt to Charlie for advancing our understanding of our field, for his strong and visionary leadership during troubled times, and for the wisdom he shared. We are grateful for his contributions and his friendship and we extend our deep sympathy to his family and to those who had the privilege of knowing and working with him." @default.
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• W2012283132 title "In Memoriam: Dr. Charles J. Epstein (1933–2011)" @default.
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