Summary of APHMG 2001 Workshop

ASSOCIATION OF PROFESSORS OF HUMAN OR MEDICAL GENETICS

SEVENTH ANNUAL WORKSHOP
WESTWARD LOOK RESORT
TUCSON, ARIZONA
APRIL 20-23, 2001

Second Plenary Session Saturday, April 21 8 AM – 10:30 AM Psychiatric Genetics Bruce Korf, Chair

Efforts to study the genetics of complex disorders will, at some point, likely result in the ability to offer predictive testing and other clinical interventions, including new approaches to treatment. This will place important demands on the medical genetics community to remain current on new information related to complex disorders that may be applicable in clinical care. In this session, two speakers discussed the current status of research on the genetics of psychiatric disorders. Dr. Jordan Smoller of Harvard Medical School summarized the current understanding of the genetics of psychiatric disorders, including schizophrenia and affective disorders. So far, this field has been complicated by divergent results, and difficulty in definition of phenotypes. Dr. Smoller reviewed the approaches currently being used, including linkage and association studies, that may help clarify the genetics of various types of psychiatric disorder. Dr. Leon Eisenberg, also of Harvard Medical School, was unable to be present at the meeting, but sent a manuscript which was read, addressing the important social and ethical considerations that surround the genetic approach to psychiatric disorders.

Special Interest Groups Session: Saturday, April 21 10:30AM - 3 PM MD Undergraduate Education Maureen McGovern and Feige Kaplan, co-chairs

Peggy McGovern described some of what was going on at Sinai and drew a handout. Dr Feige Kaplan descibed the McGill experience. There was then a discussion regarding reviewing current programs (which is ongoing by Dr. Kaplan). There was also a discussion regarding the possibility of setting up a list-serve online. All agreed that would be a good idea.

Residency Program Directors in Medical Genetics L.J. Elsas, Chair

The session was called to order by Dr. Elsas who reviewed the importance to the APHMG that we develop a Committee of Residency Program Directors for "Medical Genetics" that could have nationwide representation and meet at the APHMG annual meetings. He pointed out that there exists an Organization of Program Directors Association (OPDA) for all clinical training disciplines coordinated through ACGME/RRC/CAS. The APHMG is expected by the Council of Academic Societies (CAS) of the ACGME to send a representative.

The ACGME and ABMS are reviewing six areas of "competency" in clinical practice: knowledge, patient care, interpersonal and communication skills, professionalism, practice-based learning and improvement and system-based practice. Dr. Suzanne Cassidy reiterated the guidelines, rules, and evaluation processes for Clinical Medical Genetics Residents under the ACGME/RRC for accreditation of programs supervision. She pointed out the scarcity of programs and eligible residents in clinical training. A general discussion followed concerning how to recruit and retain residents in Medical Genetics, how to obtain funding, how to evaluate progress, how to maintain academic goals including research experience and how to integrate the laboratory sub- specialties of Medical Genetics (Cytogenetics, Biochemical Genetics, and Molecular Genetics) into Clinical training programs. It was pointed out that the APHMG had "approved" a list of trainor/trainee objectives for each program in Medical Genetics that could be of use in the application process to the RRC and in communication with residents.

The meeting continued into a luncheon at which two decisions were made:

The APHMG should develop a Committee of Medical Genetics Residency Directors and invite all RRC/ACGME approved directors to attend.

Dr. Suzanne Cassidy and Dr. Peggy McGovern (Dr. Elsas ex-officio) will organize this committee. Dr. Elsas will continue as liaison to the CAS for the APHMG and represent this committee.

These recommendations were presented to the APHMG members and approved by assent.

Department/Division Directors Bronya Keats, Robert Desnick

A breakout session for Department Chairs and Division Directors focused on issues of Departmental/Divisional relevance. Among these was a discussion of the increased awareness by Medical School Deans of the relevance and importance of genetics as many are interested in facilitating the growth of genetics programs and enhancing the genetics content in medical school curricula. Also, some institutions are creating centers for genomics, bioinformatics, and/or translational medicine. These are interdisciplinary programs and geneticists should be involved in joint recruitment of new faculty by Departments and Centers. Also, geneticists should be involved in the development or expansion of shared core facilities such as sequencing, microarray, transgenic/ES, and bioinformatics. Many institutions are developing "translational medicine" programs. These programs present another opportunity to recruit faculty and/or to develop programs in interventional genetics including protein, gene, and stem-cell therapies.

Third Plenary Session Sunday, April 22 8:30 AM-12 Noon Integrating Medical Genetics into Clinical Training Jerry Feldman, Chair

The purpose of this session was to discuss and present models for integrating medical genetics into the 3rd and 4th years of medical school training. The session began with updates by Dr. Korf on a visit by Dr. Korf and others at the National Board of Medical Examiners, where the genetics contents of Board examinations were reviewed. Following that, various models were presented, as follows:

Bruce Korf of Harvard Medical School described a pilot program at Brigham and Women's Hospital to integrate genetics into the clinical curriculum in internal medicine. The approach is based on helping students recognize the contribution of genetics to both inpatients and outpatients that they see. On the inpatient service they are asked to take a family history using a standard pedigree form. At least one such pedigree is handed in at the end of the first month of their three month rotation, at which time they meet with a faculty member to discuss the pedigrees. During their outpatient experience, which occurs during months two or three, students are assigned to various adult genetics clinics, such as breast or colon cancer, hemoglobinopathy, renal genetics, or general genetics. They are asked to submit at least one case vignette, and these are discussed at a meeting with a faculty member at the end of the month. This program has been in place since the beginning of the 2000 academic year, and currently is the subject of an outcomes study to evaluate its utility.

Anne Greb from Wayne State University presented a preliminary version of a web-based teaching module to be utilized during the 3rd year clinical rotation in Internal Medicine. The module utilizes the genetic disorder hemochromatosis to present to the student various genetic concepts, including diagnosis, pedigree analysis, available web-based resources, genetic counseling and follow-up. The program requires the student to answer specific questions in these topics and will include a computer-based assessment of the students understanding of the topics presented.

Peggy McGovern from Mount Sinai School of Medicine briefly discussed the training of medical students at her institution, which includes the use of trained actors to simulate patients with genetic conditions.

Fourth Plenary Session with AAMC Council of the Deans Monday, April 23 8 AM – 12 Noon Keynote addresses: Greg Koski, MD, PhD, Director, Office of Human Research Education David Kessler, MD, Dean, Yale University School of Medicine Teaching Research Ethics in Graduate and Residency Programs Mary Kay Pelias This session included presentations by Linda Adkison (Mercer Univesity), Jess Thoene (Tulane), Gretta Seashore (Yale), and Bob Erickson (U. of Arizona) - a reasonable spectrum of medical v. graduate education, public v. private education, and diverse geographic locations. Speakers presented outlines of their respective courses, with discussions of didactic presentations, problem-based learning exercises, and comments on student enthusiasm and participation (or the lack thereof). Jess Thoene summarized a particularly poignant lecture by Hans Andersson on "Breaking Bad News," something we have all faced in the practice of medical genetics. Other speakers noted greater or lesser interest in courses now required of graduate students and medical students, the structure of these courses, and the perennial problem of using texts and/or syllabi that may contain "the written word of the professor that becomes the written word of the student without passing through the mind of either." Responses to the program were generally favorable, indicating that the APHMG membership might be interested in similar presentations at future workshops.