Skip to Content

School of Medicine Greenville

Understanding and safeguarding the information in DNA

The field of genetics and molecular cytogenetics holds much promise in modern medicine, helping to diagnosis diseases and prevent certain medical conditions. Cutting edge advances — from more-accurate prenatal screening for chromosome abnormalities to non-invasive cancer testing — are being tested and refined.  

“It is a growing field,” says Dr. Robert Best, professor at the University of South Carolina School of Medicine Greenville. “On the molecular genetics side, we are learning new things every week.” 

In fact, remarkable advances in genomic technologies and bioinformatics brings medical genetics ever closer to the center of modern medicine, says Best. And with this promise, comes great responsibility to establish safeguards and standards in the field.

Dr. Best, a medical geneticist and longtime member of the American College of Medical Genetics and Genomics (ACMG), will now serve as interim CEO of the organization charged with an important mission that includes setting medical standards to guide the use of new technologies in medical genomics, fostering training for new medical genetics professionals, and establishing standards and procedures for patient care and clinical laboratory work. ACMG is the only nationally-recognized US medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics.

On Oct. 21, 2022, Dr. Best was named the interim CEO of ACMG. 

Best has been a faculty member at the University of South Carolina since 1987 and at the University of South Carolina School of Medicine Greenville since 2011. A medical geneticist and major contributor to the fields of cytogenetics and bioethics, Dr. Best is a Founding Fellow of ACMG and has a long history of service at the respected medical professional institution. Some of Best’s recent work has centered around laboratory medicine, genetic counseling and bioethics, including recently serving as the chair of ACMG’s Work Group for Stewardship of Patient Genomic Data and development of practice guidelines for prenatal aneuploidy screening.           

“I am very pleased that Bob has accepted the Interim CEO position for the ACMG,” said ACMG President Marc S. Williams, MD. “Bob has a long history of service to the College including chairing the SELI Committee, serving on an Evidence Based Guideline Group, and on the Joint ACMG/ACMGF Personnel Committee. He is trained in both clinical genetics and cytogenetics and was one of the initial group to go through the Laboratory Genetics and Genomics process. In addition, Bob has extensive training in organizational leadership. This broad set of skills and experiences, coupled with his ongoing commitment to the success of the College makes him an outstanding choice for the interim role.”

Best will lead the ACMG and the ACMG Foundation for Genetic and Genomic Medicine (ACMGF) during the transition following the retirement of CEO Dr. Max Muenke, and until the selection of a permanent CEO. Best will maintain his faculty appointment at SOMG while he serves in this role.

The information in DNA 

Dr. Best has published upwards of 60 articles in scientific journals and other publications. His research interests and activities include bioethics, complex genetic traits, birth defect screening and prevention, molecular cytogenetics and the uptake of emerging medical technologies.

Best was the lead author on a policy paper that issued guidelines to educate the public on the benefits and risks of genomic testing and to establish recommendations to preserve patients’ welfare, autonomy, and privacy after genetic testing. The paper, published in Genetics in Medicine, covered the responsibilities of testing laboratories in preventing privacy breaches, as well as safeguards to avoid unfair discrimination and the misuse of genetic information.

“DNA has a lot of information in it,” says Best. “As the technology is changing so rapidly you can’t establish laws [in a timely manner]; you can only establish ethical standards. Even at a time, when it is too early to pass a law, we help establish those standards.” 

His recent research includes a 2021 publication establishing guidelines for the use of cell free non-invasive screening for Down syndrome in twin and triplet pregnancies through the International Society for Prenatal Diagnosis. Best is also working on a project in progress, through ACMG, to develop evidence-based guidelines for cell free fetal DNA compared with conventional screening approaches in low-risk pregnancies.

“We can learn an awful lot from fragments of fetal DNA,” says Best. “Some of these screening technologies have now been established as the most effective way to screen for certain kinds of chromosomal abnormalities with rates of false positive results that are 20 times lower when compared to conventional screenings.” 

Best has been a faculty member at USC since 1987. He was a faculty member in the Ob/Gyn Department in the USC School of Medicine in Columbia serving as director of the Division of Genetics, where he oversaw the regional genetics center with active programs in genetic counseling, prenatal screening and laboratory medicine.

Beginning in the 1980s he has been involved in research around the use of folic acid as a way to help decrease the risk of neural tube defect, a serious birth defect, in infants. He was part of a statewide CDC-funded prospective study that looked at the use of folic acid to decrease the recurrence of these serious birth defects in families who have experienced one in a previous pregnancy.

In his latest faculty role at SOMG, Dr. Best has been a mentor to medical students, helping future doctors in cutting edge research. This year, …two of those students have submitted presentations for the International Congress on Human Genetics to be held in Cape Town South Africa. 

Olivia Larner, a second-year medical student, is working on a molecular study of a gene suspected to be involved in autism spectrum disorder. This is part of a collaborative research project with the Greenwood Genetic Center and an international group of collaborators. 

Miles Rothstein’s research examines the potential use of artificial intelligence (AI) in the field of medical genetics. Rothstein is also a second-year medical student. 

Challenge the conventional. Create the exceptional. No Limits.