Variants vs. Diagnoses: Leslie Biesecker delivers keynote address at CGM Symposium

Leslie Biesecker, MD, a leader at the National Human Genome Research Institute (NHGRI), delivered the keynote address at the 2018 Center for Genomic Medicine Symposium. The annual symposium was held May 23 at the Jackson Center on the HudsonAlpha campus.

Biesecker, a clinical and molecular geneticist, chief of the medical genomics and metabolic branch and director of the physician-scientist development program at NHGRI, has focused his studies on the uses of genetic and genomic technologies to identify the causes of genetic disorders.

More than 100 people attended the 2018 CGM Symposium

In his talk, Biesecker addressed the challenges around the use of genetic variant information to make clear diagnoses. He noted that genetic variants, even when pathogenic, are rarely 100% predictive of disease; rather, they are associated with a probability of disease, or disease risk. Further, there is little consensus among clinicians and laboratory directors who are evaluating variants and delivering results to patients (Biesecker also pointed out this lack of consensus is not unique to the field of genetics; pathologists have similar challenges in interpretation).

Biesecker challenged the clinicians, researchers, and laboratory specialists in attendance with his assertion that the probability of the pathogenicity of variants is not the probability of the correctness of the patient’s diagnosis.

“We are conflating those two concepts, which leads to confusion. We need to allow labs to focus their interpretation skills on the pathogenicity of a variant. The doctor’s job is to make the clinical molecular diagnosis for a patient. Doctors should be making diagnoses, not labs,” Biesecker stated.

The Center for Genomic Medicine is a collaborative partnership of the University of Alabama at Birmingham School of Medicine and the HudsonAlpha Institute for Biotechnology with the primary mission of conducting research in genomic medicine and facilitating the translation of research findings into clinical practice. In support of this mission, the Center brings together multidisciplinary teams from both institutions, comprised of physicians, clinicians, biotechnologists, geneticists, bioinformaticists, and other specialists who engage in collaborative research focused on genomic discoveries that will enhance and inform patient care.

To learn more about the Center for Genomic Medicine, visit