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Jonathan Berg: Clinical Cancer Genomics

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Title: Assistant professor, University of North Carolina, Chapel Hill
Education: PhD, University of North Carolina, Chapel Hill, 2001
Recommended by: Jim Evans, University of North Carolina, Chapel Hill

As a clinical geneticist, UNC's Jonathan Berg spends half of his week treating patients with a range of genetic disorders and the other half in his lab, where he is refining diagnostic approaches so that his patients can better benefit from technologies like whole-genome sequencing. His goal is to pinpoint the fundamental genetic etiology for a particular patient's cancer and tailor therapies accordingly.

Berg says that his journey to clinical genetics took a rather circuitous route. "I've always been interested in science, but I didn't actually go to medical school thinking I would go into clinical genetics," Berg says. "I did a rotation with some folks in the cancer genetics field and really got intrigued with the idea that one could derive some fundamental information about people and inform their medical care." Berg completed his residency training in genetics at Baylor College of Medicine, where he was exposed to some of the most cutting-edge genomics-based diagnostic approaches of the time.

Looking ahead

Berg says that he hopes his feedback-loop style of having the clinic inform his research and his research inform his clinical approach will eventually lead to a fully integrated genomics approach that could provide physicians with tools for consistently accurate diagnosis. "Five to 10 years from now, I hope that any patient with an unsolved medical problem could have a genome sequence done and that it would be routine in work-ups of people whose medical conditions are unknown," he says. "I think that's a reasonable time frame — certainly the sequencing technology will be there and the cost would be in a reasonable range by then."

Publications of note

In 2008, Berg published a paper in Genetic Medicine that he says inspired him to incorporate genome-wide diagnostics in the clinic. In it, his team describes using arrayCGH to identify 14 individuals from eight families that harbored microduplications within the 22q11.2 region. Before this research was published, only a small number of patients with 22q11.2 microduplication had been identified.

And the Nobel goes to ...

Berg would rather win for advancing patient care than for a scientific discovery. "I think science is important ... but I would really like to make significant advances in terms of making patient care move forward," he says.

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.