July 7
Southern Genetics Society Meeting
Thursday, July 7, 1994
Litchfield, South Carolina
Education Workshop - Jewell Ward reported that the Medical School Course presented in conjunction with this meeting was again a success. Thirty-two medical and graduate students were present for the course. Sallie Freeman at Emory University proposed a multi-media approach including seminars, quarterly newsletters, a hot-line number for quick consultations and high-quality video tapes for self-education to transfer massive genetic knowledge to practitioners in the community in a relatively flexible format.
Biochemical Workshop topics included demonstration of the analysis of saccharides and mucopolysaccharides, galactosemia and measurement of its products and enzymes, amino acids, and organic acids. There was also a joint session with the Medical Students Course on DNA analysis and enzyme diagnoses. Surveys have been sent to laboratories to assess the need to continue the Biochemical Proficiency Testing program.
Nutritional Management - SERGG has the only regional Nutritional Management Workshop. This workshop can make an impact at the national level by addressing recommendations by this group to American Academy of Pediatrics who is developing national guidelines for PKU treatment. There is a list of metabolic nutritionists in SERGG. Teresa Carithers from Mississippi has begun gathering information to develop a national directory. A national training course for nutritionists could be held in 1996.
Public Health Workshop - When Sarah Wilding began coordinating the SERGG data collection in 1988, only two states were actively participating in data collection. Neither had complete reporting from their centers. Today all states on SERGG are reporting data. SERGG has more complete reporting than any of the other regions. In order for this effort to move forward, a separate data committee was formed: Sarah Wilding, Chair; Avi Tharapel, Cytogenetics; Paul Fernhoff, Clinical; Jack Tarleton, DNA; and Manny Shapira, Biochemical. Dr. Elsas urged all states to continue supplying data and to encourage their centers to provide more complete data.
Cytogenetics - Cytogenetics proficiency data, including a number of samples handles, types of samples handled, and turnaround time for the past eleven years has been collected. The data will be sent to each participating laboratory for verification of accuracy. A series of graphs will be developed for publication which will indicate the changes and trends in cytogenetics in SERGG over the last eleven years. A study will be done to determine why some of the private labs are very efficient in providing test results in 5-7 days, especially with regard to amniocentesis. Dr. Katy Phelen conducted the cytogenetics wet-lab workshop on FISH in August at Greenwood Genetics Center assisted by Imagenetics.
DNA - The workshop plans produce joint fact sheets on specific molecular techniques and how they are being applied to specific diagnosis. Four or five diseases have been identified to layout a simplistic explanation of what is going on in the laboratory and could be used by a counselor of physician who would be explaining these procedures to patients. The Clinical subcommittee is exchanging information between the laboratories in SERGG in preparation for CAP inspections. CAP proficiency testing was conducted for molecular genetics for the first time in the Fall of 1994.
Sickle Cell - There needs to be follow-up on the newborn screening programs to demonstrate decreasing morbidity and mortality. Also, there still seems to be a lack of information reaching primary care physicians on standards of care for patients with hemoglobinopathies. The ramifications for the primary care physician for not following standards of care must be deferred.
Genetic Counselors - Two publications, Treacher-Collins and Opitz Syndrome, will be available for distribution. The DNA pamphlet is being reviewed.
Financing Medical Genetics - A forum on Health Care Reform was held prior to the Southern Genetics Group summer meeting. Dr. Helen Smits, Deputy Administrator of HCFA, was the keynote speaker. Dr. Bob Greenstein from the University of Connecticut and Dr. Mike Watson from Washington University presented clinical and laboratory information on how to better organize our clinical and laboratory delivery and how to increase reimbursements for those services.
Newsletter/Gopher - The "Gopher" technology could easily provide genetics information to genetic and primary care physicians electronically.
Registry - The registry could be easily put on the SERGG "GOPHER" or be made available on discs. The next edition will include E-mail addresses.
Ethics & Legal Issues - Mary Kay Pelias attended the CORN Ethics Committee held prior to the American College of Medical Genetics meeting in Orlando. Three days were spent drafting a code of ethics for practitioners in medical genetics. This code has been approved by the Steering Committee of CORN and sent to the American Society of Human Genetics and the American College of Medical Genetics.
Consumers - SERGG provides a "welcome" packet including a map of the southeast United States, SERGG by-laws, information about CORN and SERGG, and a previous SERGG meeting program.
Clinical Genetics - The clinicians are collaborating on diagnostic checklists and clinical forms they are using in their practice. A Speakers Bureau including geneticists, genetic counselors and nurses who will be speakers at continuing education courses for primary care providers is being developed.
