April 18, 2014 | Decades of work at UAMS unlocking the secrets of human genetic legacy have resulted in a legacy of accomplishment in genetic medicine.

UAMS on April 11 celebrated that legacy of more than 40 years of research, education and clinical care in medical genetics with a short series of lectures and awards.

In 1971, the first clinical genetics services started in Arkansas under Florence Char, M.D., said G. Bradley Schaefer, M.D., chief of the UAMS Division of Genetics.

Char established the state’s first genetics clinics and cytogenetics laboratory. Cytogenetics is the study and function of the cell, especially the chromosomes. She also was instrumental in the creation of the Arkansas Genetics Program at UAMS. Almost until her retirement in 1987, Char often was the sole provider of genetic diagnosis and counseling in Arkansas.

At the celebration, Becky Butler, assistant professor in the Department of Genetic Counseling, presented the Florence Char, M.D., Award to Curtis Lowery, M.D., director of the UAMS Center for Distance Health and chair of the Department of Obstetrics and Gynecology in the College of Medicine.

The award is given to an individual who is in the field of genetics and has contributed to the creation, development, operation or improvement of genetic services or services for people with genetic disorders in Arkansas.

Lowery received his award via teleconference in recognition for his contributions to maternal-fetal medicine education and telegenetics — the use of telemedicine in clinical genetics services.

Former U.S. Sen. Blanche Lincoln was honored with the Donald E. Hill, M.D., Memorial Award, although she was unable to attend the celebration.

The Hill award is given to an individual who is not employed in genetics but has contributed to the creation, development, operation or improvement of genetic services or services for people with genetic disorders in Arkansas. Hill was director of the Arkansas Genetics Program for its first three years.

In the Senate in 2004, Lincoln championed a $1.3 million appropriation to fund the Mid-America Genetic-Counseling Education Consortium, which prepares counselors in Arkansas, Nebraska, Oklahoma and Kansas to help physicians and patients use genetic information in managing a wide variety of medical problems.

In 2008, six genetic counselors were in the Arkansas clinical workforce. There were 16 by 2014. During that same time period, the number of pediatric geneticists has grown from one to five, adult geneticists from one to two and the number of maternal-fetal medicine doctors from two to four.

Schaefer said the state’s Birth Defects Registry consistently has been rated as among the best in the nation. UAMS is a national leader in telemedicine — including telegenetics, has a genetics counseling training program in the College of Health Professions and has greatly expanded newborn screening for birth defects.

In 2009, UAMS cut the ribbon on its Adult Medical Genetics Clinic. The clinic offers evaluation and testing, genetic counseling and ongoing patient care for adults and adolescents, including those with Down syndrome.

“Arkansas is more progressive than some people might think,” Schaefer said. “It’s exciting to see the levels of accomplishment we are achieving now.”

After introductory remarks about the vision for clinical genetics at UAMS from College of Medicine Dean G. Richard Smith, M.D., Schaefer provided a brief overview of the history of genetic medicine at UAMS, and Kent McKelvey, M.D., made a presentation regarding the future of genetic medicine at the university.

Guest speaker John Carey, M.D., M.P.H., professor and vice chair of the Department of Pediatrics at the University of Utah and editor in chief of the American Journal of Medical Genetics, gave an overview of the development of genetic medicine over the course of the last several decades.

He urged the audience of more than 70 faculty, students and clinicians to keep genetic medicine focused on the patient and to reducing the cost of care in using genetic medicine for them.