Genomics for preventative medicine

Using next generation sequencing technology, Bennett and his team are decoding how changes in our genetic code alters the function of those genes. They are developing new genomic assays to uncover the role of certain DNA variations in genes causing serious inherited conditions, with a focus on preventable or treatable disorders. One such disorder is biotinidase deficiency, which can lead to intellectual disability in children if biotin (or vitamin B7) is not supplemented in their diet early enough. 

Establishing links between DNA changes and genetic disorders will allow earlier diagnosis of inherited conditions, and expand the clinical usefulness of genomics in preventive medicine.

Bennett co-founded the genetic screening startup company, Genepath Laboratories.

About Bennett Shum (he/him)

Dr Bennett Shum is co-founder of Genepath Laboratories and Adjunct Senior Lecturer in the School of Medical Sciences, Faculty of Medicine, UNSW Sydney. After obtaining his PhD from UNSW Sydney and the Garvan Institute of Medical Research (2007), he was recruited to the Department of Pediatrics at Harvard Medical School, Boston, and later at the Broad Institute of MIT and Harvard, Cambridge USA. Bennett completed an MBA from the Australian Institute of Business, Adelaide (2017). He is an expert in next generation DNA sequencing, and leveraging cutting-edge technologies for scientific advancement has been a constant theme throughout Bennett’s career.

Select Publications

Shum, B. O. V., Pretorius, C. J., Sng, L. M. F., Henner, I., Barahona, P., Basar, E., McGill, J., Wilgen, U., Zournazi, A., Downie, L., Taylor, N., Cheney, L., Wu, S., Twine, N. A., Bauer, D. C., Watts, G. F., Navilebasappa, A., Kumar, K. R., Ungerer, J. P. J., & Bennett, G. (2023). Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening. Clinical Chemistry. https://doi.org/10.1093/clinchem/hvad066

Shum, B. O. V., Henner, I., Cairns, A., Pretorius, C., Wilgen, U., Barahona, P., Ungerer, J. P. J., & Bennett, G. (2023). Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing. Frontiers in Genetics, 14. https://doi.org/10.3389/fgene.2023.1095600

Shum, B. O. V., Sng, L. M. F., Ruseckaite, R., Henner, I., Twine, N., Bauer, D. C., Wilgen, U., Pretorius, C., Barahona, P., Ungerer, J. P. J., & Bennett, G. (2023). The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia. Prenatal Diagnosis, 43(1), 109–116. https://doi.org/10.1002/pd.6285

Shum BOV, Bennett G, Navilebasappa A, Kumar RK (2021) Racially Equitable Diagnosis of Cystic Fibrosis Using Next-Generation DNA Sequencing: A Case Report. BMC Pediatrics, Vol. 21, p 154.

Shum BOV, Henner I, Belluccio D, Hinchcliffe MJ (2017) Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test. J Mol. Diagnostics, Vol. 19, pp 602-612.

In the News

• Targeted Next- Generation DNA Sequencing to Improve Newborn Screening