Nicholas Watkins: MoGen Teaching Highlight

A MoGen alum twice over, Nicholas Watkins is a Genetic Counsellor (GC) with distinct expertise in variant analysis and diagnostic reporting. He is passionate about improving the capacity of diagnostic laboratories to better incorporate ever-evolving genomic tools, practices, and guidelines, enhancing patient care in the process.  

Nicholas’s primary role is as a Genomic Diagnostic Data Specialist at Mount Sinai Hospital. However, he also practices as a clinical GC at the University Health Network and is a course coordinator within the Genetic Counselling program, while lending his expertise to the broader Molecular Genetics (MoGen) Department as well.  

Nicholas became interested in genetics during his undergraduate degree despite it being his lowest grade at the time. As such, he continued to a research-based MSc in the MoGen department, where he investigated Caenorhabditis elegans synapse formation in the Zhen lab. Although he had a keen interest in genetics, he felt the research environment just wasn’t for him. Luckily, during this time he heard about the Genetic Counselling program, a sister program also housed within the MoGen department.  

“It’s what I've always been looking for,” Nicholas explains, “the intersection of people and science.” Upon meeting with Genetic Counsellors and students, he knew the program was going to be a good fit. After three application attempts for the ultra-competitive program, he completed his MSc in Genetic Counselling in 2014. 

Nicholas would rejoin the MoGen Department as faculty just a couple of years later. As a course coordinator, lecturer, and rotation mentor, Nicholas gets to give back to the community and see students grow in the most rewarding ways. Over the years, he has worked with many GC students, seeing them develop as volunteers pre-program, to students within the program, and then colleagues post-program.  

“It's an interesting kind of full circle type of thing that is definitely motivating after you've seen it a few times,” he explains discussing his interactions with graduates who brought in their new expertise and experiences to teach him something new. 

As a Genomic Diagnostic Data Specialist, he describes his role as “a lab genetic counsellor.” For this type of role, GCs act as “clinical consultant[s] to the lab” whereby they help to maintain a patient-focused perspective when discussing testing approaches, turnaround times, patient privacy or consent, and other aspects of the lab’s work. The expertise of GCs who work directly in the clinic with patients is important to add context to a clinical lab because “the experience in an actual clinic is different,” Nicholas describes. 

As part of the clinical lab, Nicholas plays a huge role in variant analysis and reporting, often reviewing cases that are particularly weird or unusual. It is this expertise he shares with the students in the Medical Genomics program during his guest lecture and assignment in the summer Variant Interpretation Workshop. There, he aims to instill a sense of exploration into the students.

The other part of his role encompasses projects that focus on how to deliver better patient care through the incorporation of novel tools, tests, practices, and guidelines, particularly for variant analysis. He describes this part of his role as determining “how do we make ourselves better at what we do? How do we be more efficient, [and] how do we stay with the current guidelines.” 

For example, many clinical labs have built their genome and variant analysis practices around version 37 of the human reference genome (hg37). However, many tools and databases have been updated in recent years to employ version 38 of the human reference genome (hg38). Nicholas describes this challenge as two-fold: (1) “How do we validate a tool for [hg38]” and (2) “When do we move over to [hg38]”. Many teams, like his own, are investigating how to switch over their existing systems and procedures to the newer reference version to enhance diagnostic utility, however, “you're adding potential sources of error every time you switch” says Nicholas, reinforcing the caution many institutions have.  

Keen to accept challenges, these and other such projects working to innovate clinical genomics practices are exciting for Nicholas as he is “interested in how we can better do our jobs using a lot of the tools that are available.” This is where he hopes to continue to grow his career to make meaningful enhancements to the delivery of genomic patient care. He also looks forward to sharing his passions and expertise with many future students. 

We are incredibly lucky to have Nicholas on our team here in the MoGen department – thank you for the enthusiasm and insights you bring to our students.