Behind the curtain into the daily life of a cytogeneticist
Ever wondered what a day in the life of a cytogeneticist in a genomic healthcare nirvana looks like? Never fear! Alka Chaubey of Greenwood Genetic Center has the inside scoop…
Greenwood, where?” Yes, I live in a small Southern town. Not exactly the bustling metropolis where I envisioned myself when I was a young student of Cytogenetics in India at the turn of the century. But now, I can’t imagine another place where I would feel more at home and have more of an impact on the lives of patients and families.
Even though I was initially skeptical of life in a small town like Greenwood; that quickly disappeared once I realised I could breeze through four traffic signals to park right next to my office, just 15 minutes after leaving my home on the other side of town. It’s a beautiful drive through the Emerald City, no traffic and lots of natural beauty. As I enter the Greenwood Genetic Center (GGC) campus, I am greeted by a breathtaking plaza – beautiful sculptures of playing children with a peaceful fountain as the centerpiece – a reminder that my job is so very important to the families we serve, providing them with answers and a form of peace.
Chromosomes – we’ve been working with them for a long time and you may think that the life of a cytogeneticist seems mundane and routine – counting chromosomes and staring at G bands all day. But nothing is further from the truth. Yes, cytogenetics was an early form of genetic testing. But it was the very first way we could look at “whole genomes”, albeit with a lower resolution than today’s sequencing technologies. But I promise you- nothing beats the satisfaction of being able to provide answers to patients and families affected with a genetic disorder. With karyotyping and microarray being first line tests for many patients, I often get the first crack at making a diagnosis and giving that family the answers they are desperate to find. I occasionally spend my days looking under the microscope at the actual genetic material that makes us who we are – what a cool job I have! I can find pieces of the genome that are missing or have extra copies (aneuplodies) or structural abnormalities (translocations or inversions). These chromosome anomalies can disrupt genes and lead to birth defects, syndromes or even cancer. More recently, microarray technology serves as a cytogenetic tool to identify cryptic imbalances in the genome.
Monday morning – GGC faculty kick off every week with journal club. We catch up on the latest publications from scientific journals across the spectrum from clinical reports to bioinformatics to new gene reports and interesting editorials. GGC is a collaborative institution. We are close-knit and work together to stay abreast of the developments of this changing field, and this teamwork ensures that our patients have access to the latest and best in diagnostics, research opportunities and treatment strategies. Every clinician, researcher, ABMGG clinical fellow, and genetic counsellor participates by sharing important articles from their assigned journal. This is followed by a brief presentation from a faculty member to keep everyone in the know about unique cases, a new diagnostic test, research findings or updates from recently attended meetings andconferences. Communication and collaboration is essential, and this gathering sets the tone for the week ahead.
We also have the great fortune to learn from visiting international senior genetics scholars including, Dr. Jules Leroy, Dr. Juergen Spranger, Dr. Giovanni Neri and Dr. Bryan Hall. They share their expertise and vast experience with our fellows and assist with evaluating undiagnosed patients at GGC. Being part of this great institution, known as the place “where compassion inspires progress” is quite gratifying especially knowing I’m part of a center of excellence where the faculty evolve and learn from each other.
Follow the rest of Alka’s day on page 60 of the latest issue of Front Line Genomics magazine!