Next-generation sequencing (NGS) has enabled researchers to explore DNA at an entirely new scale. As a result, the industry is rapidly evolving from research-based to translating discoveries at the bedside. The 2013 FDA-clearance of the MiSeqDx moved Illumina one step closer to the clinical world, and individuals with medical and clinical research expertise are contributing to the company’s growth as part of the Clinical Affairs team. The goal: to provide clinical strategies and support for diagnostic product development on the path to achieving regulatory clearances and approvals in the U.S. and globally.
Senior Director of Clinical Affairs, Dr. Amy Sehnert, talks about how the team is furthering Illumina’s overall mission.
What is the role of Clinical Affairs at Illumina?
The Clinical Affairs team formed when Illumina acquired Verinata several years ago and as the company began to consider regulatory paths for its products. The team executes on clinical activities around the world – from clinical studies, to generating evidence required for FDA requirements, to understanding user requirements and performance aspects of the assay in terms of patient use and safety. We consider ourselves a strong internal voice within the company for the clinical customer and for the patient.
What are your team's main objectives?
To help set the clinical vision and prioritize the clinical policy for Illumina. To do that, we have three pillars of work: 1) clinical trials, 2) tissues and data, and 3) education.
In the first pillar, our core competency is to design, conduct and analyze the results of clinical studies and trials that typically support the development of clinically-directed products brought along in our businesses, including Oncology and Reproductive Health. Results from some of these studies and trials are destined for regulatory pathways such as the FDA. Others support validation of laboratory developed tests – for example, noninvasive prenatal testing and IVF. We work in both the clinical laboratory and regulatory in vitro diagnostic space, often closely with Illumina's Regulatory Affairs group.
In the second pillar, focused on tissues and data, our goal is to provide protocols and uniform systems for accessing and tracking biological samples and medical information that Illumina receives. This allows us to ensure efficiency, compliance and continuity of samples and data for clinical trials and research.
The medical education pillar is where we identify and execute on continuing medical education opportunities that Illumina may sponsor via professional medical societies, or even inside of Illumina. This is how we connect with doctors, practitioners, and clinical laboratory directors who are eager and interested to learn about genetics and genomics in clinical practice and use. Because we're able to talk with practitioners and to reach patients through our studies, we can see how our work in the clinical setting impacts real people, every day. This is where the emotion and science meet, and it's incredibly inspirational.
Where are you seeing the most growth and expansion in your group's activities?
Definitely in our second pillar of tissues and data. Over time, we will be supporting more clinical trials. The research in these trials is based on generating genetic results from biological samples and tying back to relevant clinical information. We have specimens to house and must maintain compliance around how those specimens are acquired, accessed and handled. There's also an enormous amount of clinical and sequencing data that we generate here. Our growth will come from how we support and build this infrastructure to carry out this work.
You mentioned that your team works closely with Regulatory Affairs. Can you talk about some of the key differences between these areas?
While we share much of the same discipline around compliance and safety in clinical product development and work closely with our Regulatory Affairs colleagues, we play different roles. For example, when the MiSeqDx Cystic Fibrosis assays were developed, the Clinical Affairs team acquired samples for a study to show that NGS can detect clinically relevant mutations in the Cystic Fibrosis gene. We analyzed data from the studies and wrote a report to submit to the FDA. Regulatory Affairs is helping us communicate that information back and forth to the FDA. But not all of the studies we do involve Regulatory Affairs. Sometimes they support laboratory developed tests, such as the CARE study of noninvasive prenatal testing, which was published in the New England Journal of Medicine in early 2014.
What are you most excited about for Illumina's future?
Based on advances in instrumentation, sequencing genomes is less costly and easier to do now. Thus, we are able to play a more effective role in helping medical practitioners translate information to the bedside, information that up to this point was only available in the research realm. Think about the introduction of non-invasive prenatal testing. Use of this technology has grown faster than most other genetic screens in history. Because of what we do at Illumina, this information is usable at the bedside for patients and their families. We're on the forefront of amazing medical advances, and that is incredibly exciting.