Angela Shaw is a genomic scientist at Illumina and an alumna of the M.H.Sc. in Medical Genomics program. She graduated from the Medical Genomics master’s program in 2021 after completing her capstone practicum at St. Michael’s Hospital as a genomic data analyst with Dr. Yvonne Bombard. Prior to starting at Illumina in November of 2021, Angela was a genomic scientist at Emedgene and continued in this role when the biotechnology company was acquired by Illumina. Angela’s goal is to improve precision medicine through high throughput genomic sequencing and genomic data science, and she’s striving to unravel the intricacies behind complex genetic diseases, with a focus on understanding genetic vulnerability in mental disorders.
As genomic scientist who “wears many hats” in this role, Angela is the liaison between many teams at Illumina. She is often tasked with working simultaneously with customers while also mediating conversations with sales and research and development (R&D): “It’s important that we can translate what the customer needs and wants are, translate research and development requirements, and also create realistic sales expectations.” The versatility of skills required was the biggest surprise for Angela when she started at Illumina: “I sit at home in my work from home station and I must wear three hats at the same time and juggle them, and so at first it was a little bit overwhelming trying to manage both customer requests and […] R&D timelines.” Although she admits that managing expectations between parties was “very overwhelming and hard in the beginning,” she now finds herself really enjoying being organized and diligent with her communications, and emphasized timelines as a helpful tool to maintain clarity: “So you will have a timeline for yourself, you will have a timeline for your customer, you will have the sales timeline to juggle as well as R&D.”
As a genomic scientist at Emedgene, Angela helped genetic testing clients navigate their customer journey by performing product demos and evaluations, assisting with software implementation, and providing ongoing support to her clients. Since Emedgene was recently acquired by Illumina, Angela is currently located in Illumina’s Medical Affairs branch, where she now trains Illumina team members on Emedgene customer support: “We teach them our processes, how we do things, how to sell software efficiently and we’ve just been integrating since then.” Angela finds her role as a genomic scientist at Illumina to be rewarding: “We create our own boundaries and job descriptions and we’re allowed to have that flexibility to expand and learn more about the company as we are training [team members] as well.” Angela is an expert in bioinformatics software, originally specializing in the Emedgene software, and now taking on the DRAGEN bio-IT program offered by Illumina. In this work she is tasked with guiding clinical partners to optimize these bioinformatic platforms for their clinical needs. She shared some details about an international client she is working with: “I’m currently implementing our first customer in Hong Kong, which has been a very rewarding experience so far.” Angela continued: “Being able to take on that extra challenge of translating both the language as well as the technical requirements has definitely been challenging but rewarding at the same time.” Angela is now expanding Illumina’s clinical genomics testing internationally, working primarily with clients in the Europe Middle East Africa (EMEA), Asia Pacific, Japan (APJ) regions and the United States.
At Illumina, Angela combines her specialized knowledge in next-generation sequencing (NGS) and artificial intelligence (AI) to help partners better understand the how to use the Emedgene bioinformatic platform (which was built on AI) and to get more funding for genomics in the clinic: “What I’ve learned over the course of my position and all the research projects that I’ve done in AI is that it is not here to replace the human factor.” She continued, “If anything, AI is here to enhance what we do as individuals, so that we can focus on things […] that require human intervention.” Angela explained that a challenge we face with the majority of AI’s today is that the connections they made to go from input to output are masked behind ‘hidden layers.’ An advantage of the Emedgene platform is that it is built on ‘explainable AI,’ meaning that a user can trace back all the connections made by Emedgene from an ‘evidence graph’ output by the AI: “The evidence graph shows the connections [made] behind the scenes in order to bring that solvable [genetic] variant up, showing you the reasons why it was [pulled] to the top of your list.” Because of the high complexity of genome-wide data, AI-based bioinformatics platforms like Emedgene are now considered essential to the genome analysis process, supplementing the important work that’s done by human genome analysts.
Towards the end of our conversation, Angela spoke about her passion for the field of medical genomics: “I think it’s about the impact you make. [While] we’re not meeting with these patients individually every single day and we’re not [the ones] handing the [genetic test] reports back, what we’re doing is empowering other scientists and other doctors and physicians to feel comfortable enough to bring that result back to their patient and see it as a useful result.” She continued, “I kind of think about it as my finger touching into the water, starting the ripple effect.” Angela also finds motivation from connecting with clients and being able to empower to pursue and expand their projects: “Being able to understand [client] needs and wants is something I am intrigued by.”
Angela emphasized creating translatable skills and experiences as important to her success: “I never thought that I could use my restaurant job in order to get my job at Illumina.” She offers this advice for those looking to follow in her footsteps: “I think if you have a volunteer position, if you’re working a part-time, even driving for Uber on the weekends; those are all things that you can put on your resume because it shows you are [well-rounded].”
We are so happy to have caught up with Angela and wish her the best in her future endeavours!
