EIGHTH ANNUAL WORKSHOP
SHERATON SAND KEY RESORT
CLEARWATER, FLORIDA
APRIL 19-22, 2002
Plenary Session: Medical Genetics in the 21st Century
Reed Pyeritz, Moderator
Bob Desnick provided an overview of the diagnostic and therapeutic challenges facing medical geneticists in the 21st century. He discussed that predictive tests will increase, pharmacogenomics will become a reality and high throughput technology will become affordable and available. He discussed that therapy of genetic diseases will become more and more common and that clinical investigators and clinical networks will be needed. He recommended that we establish translational therapeutic units as a source of research funding and that these become a component of medical genetics residency training. He discussed that medical geneticists are being "pre-empted" from our historical roles as genetic laboratorians and treaters of genetic diseases by other subspecialists. He discussed the movements to provide licensure and independence by genetic counselors as possible additional threats to the medical geneticist. He recommended that medical geneticists strive to maintain our traditional roles as diagnostician, councilor and educator and expand into new roles involved in treating genetic diseases, including the disorders diagnosed by expanded newborn screening programs and more complex genetic disorders. He recommended that medical geneticists function as multidisciplinary units, establish relationships with other specialties, establish strong diagnostic laboratories and establish clinical investigator programs and establish clinical trial/treatment programs. He urged Medical Genetics not to give up these areas to other specialties.
Art Beaudet discussed another area of expertise for genetics: epigenetics. This is an ever-expanding area of new mechanisms for genetic disorders that will become more common as new diseases are discovered. He also discussed the need for uniform health care to solve the issues of genetic discrimination. He discussed the financial difficulty many academic medical genetic departments face because they have not maintained the genetic laboratories under their control.
Joseph McInerney, Executive Director of the National Coalition for Health Professional Education in Genetics (NCHPEG) previewed a draft of their newest document, Principle of Genetics for Health Professionals. This document is meant to help with the determination of content for lectures, workshops, seminars and complete courses related to genetics.
Charlie Epstein, discussed the "pediatricization" of genetics, primarily focusing on why genetics has remained a "pediatric" specialty. He discussed the expanding role of genetic counselors in other specialized areas, expanding into areas outside of pediatric and prenatal genetics. There was a discussion of the possibility of adding to the RRC Program Requirements to require training in the areas of gene therapy/enzyme replacement therapy and in the area of complex disease traits as ways of training our residents for the future. There was also a discussion of recent plans by some commercial companies to direct market genetic tests to primary care physicians and patients.
Interest Groups and Other Issues
MD Undergraduate Education Directors (Feige Kaplan): There was a discussion of 1st and 2nd year medical genetics courses, including the well-received use of bringing patients to the classes for the medical students to interact with. Also, the use of standardized patients was discussed as a newer method of teaching medical students.
LCME and Genetics Curriculum for Internal Medicine Training Programs (Bruce Korf): Bruce noted that genetics is now added to the curriculum structure content. He also discussed the AAMC Medical School Objectives Project, which includes an "understanding of the need to engage in lifelong learning to stay abreast … especially in the area of genetics and molecular biology". He also discussed a proposal for an internal medicine residency program genetics/genomic curriculum. David Gasser discussed the Medical Genetics Course at U Penn and Bruce and Skip Elsas discussed their experiences with integrating genetics into the 3rd year clerkship. They had different experiences.
PhD Program Directors (Mimi Blitzer): discussed PhD training programs. She noted there are 133 programs listed as giving PhDs in genetics, though only 17 are listed as Human or Medical Genetics.
Departmental/Division Directors and AAC Chairs Initiative (Bronya Keats, Bob Desnick): Dr. Desnick discussed the mission of the AAMC and the CAS. Greg Grabowski discussed the mentoring of junior faculty at the University of Cincinnati, Robb Moses discussed the mentoring of junior faculty at Oregon Health Sciences Center, Walter Nance discussed the mentoring of junior faculty at the Medical College of Virginia and Skip Elsas discussed the mentoring of junior faculty at Emory University.
Dr. Keats discussed the Reorganization of Basic Sciences in US Medical Schools, noting that there has been a decline in the number of basic science departments overall, but there were 9 new basic science departments created in Genetics between 1980 and 1999, with a 114% increase in PhDs awarded in Genetics.
Sunday, April 21
Plenary Session: Genetics of Complex Traits: Educating Educators
Dr Pyeritz discussed a proposal at U Penn to offer postgraduate training in the Genetics of Complex Disease Traits. He outlined the coursework and requirements.
Keynote address: David Altshuler, MD, PhD (Massachusetts General Hospital):
Human genome sequence variation and the genetics of common disease
Keynote address: Muin Khoury, MD, PhD (Center for Disease Control):
What do we do after we discover susceptibility genes for chronic diseases?
Two excellent presentations were made by the above speakers.
Presentation and discussion of educational models:
Bronya Keats discussed the PhD program in Human Genetics at Louisiana State University.
Walter Nance discussed the PhD program at the Medical College of Virginia.
Drew Carroll discussed a short course on statistical genetics, primarily for obesity and nutrition researchers being given at UAB
Monday, April 22
Plenary Session: Training Clinical Geneticists
Workforce Issues (Mimi Blitzer): discussed a grant to fund a project to improve the understanding of genetic services. Investigators from the University of Illinois and the University of Baltimore are involved in the project. Mimi is a co-investigator.
How many clinical geneticists does the world need? (Reed Pyeritz)
Information in 3 main areas is needed to answer the question posed by the title. We need to understand the characteristics of the current workforce, what the needs are of the population today and in the next decade, and what forces drive supply and demand. With regard to the current workforce, the some of the questions that should be addressed include: What do clinical
geneticists do with their time? What could clinical geneticists do with their time? What are the perceived incentives & disincentives to do clinical genetics? What influences a trainee to become a clinical geneticist? There are no more than 895 ABMG-certified clinical geneticists working in the U.S.A., and few devote more than 50% of their time to clinical activity. Clinical geneticists need to consider carefully their methods, scope and extent of practice at the same time that the broader medical profession is considering how to deliver services to an increasing number of patients whose ages span conception to the grave.
Program Directors Association: Susie Cassidy discussed the formation of a group to represent Medical Genetics Program Directors within the Organization of Program Directors Association (OPDA). She also noted that Medical Genetics Residency Programs will have to participate in the National Residency Match Program, beginning in 2003 (editor correction – apparently will begin in 2004). Dr. Cassidy noted that "on call" issues are primary issues on a national level, but that "on call" from home does not count as being "on call". That should make most genetics programs in compliance with new guidelines. She also discussed the need for programs to develop methods to evaluate the competency of residents, a requirement of the ACGME that has to be incorporated into every residency program. A decision was made for the APHMG to support a program directors association, including attending national meetings.
Residency Review Committee: Jerry. Feldman reported that a joint RRC Medical Genetics-Pathology subcommittee will be formed this summer to determine the minimum requirements for the Molecular Pathology subspecialty fellowship program. Dr. Feldman also reported on the current status of RRC-approved Medical Genetics residency programs. There are 45 accredited training programs, with 87 of 190 available training slots filled. There are 14 programs that have no residents. Most residents have prior residency training in pediatrics or internal medicine.
Respectfully submitted,
Gerald Feldman, MD, PhD
Secretary-Treasurer, APHMG