Hutton Kearney, Ph.D., Consultant of Hereditary Genomics Laboratory in the Division of Laboratory Genetics and Genomics at Mayo Clinic, participated in an interview with Frontline Genomics Magazine to discuss cytogenetics.
In her interview, Dr. Kearney discusses her work as a cytogeneticist and the evolution of the techniques. According to Dr. Kearney, historically, separate diagnostic disciplines of Clinical Molecular Genetics and Clinical Cytogenetics have been recognized. However, these traditional boundaries are now blurred with newer techniques and assays. "I trained in both disciplines and love them both; however, I found my true passion in the open-ended questions asked by cytogeneticists and the creativity required to decipher and contextualize the novel findings and structural complexities encountered as we explored genomes at large," said Dr. Kearney.
Dr. Kearney also highlights recent advances that have excited her at Mayo Clinic, including the clinical mate-pair sequencing (MPseq) for the molecular characterization of novel genomic rearrangements for both hereditary and neoplastic disorders. Mate-pair sequencing leverages a specialized long insert library preparation followed by low-pass, paired-end sequencing. This method allows for bioinformatic inference of most of the unsequenced inserted sequence for a relatively inexpensive whole-genome survey of structural variation with high diagnostic sensitivity compared to traditional short-read sequencing approaches. Dr. Kearney commented, "To say that we are excited about this new technique and the diagnostic clarity provided is a terrific understatement!"
According to Dr. Kearney, Mayo's MPseq clinical tests represent the culmination of years of collaborative effort across multiple research and clinical disciplines, in addition to software developers and IT specialists.
"The opportunity to work with and learn from this large multidisciplinary team of talented experts has been some of the most exciting and rewarding work of my career," said Dr. Kearney. "In my next life, I’d like to try my hand at bioinformatics or software design, but for now, I’ll happily settle for my clinical diagnostic role while partnering with some really talented colleagues (although I may sneak in a few classes to learn a little R!)."
Dr. Kearney also discusses the benefits of merging Mayo's Cytogenetic and Molecular Genetics clinical laboratories. "The rate of technological advancement in genomics is unprecedented, and clinical laboratories will need to work to keep the pace. The techniques and tools available today will, of course, be quickly replaced by more advanced approaches tomorrow," said Dr. Kearney. "Our newly unified laboratory practice structure will allow us to leverage our collective expertise to better embrace these advances and drive the clinical genomic testing toward faster and clearer answers for the patients we serve."