How Illumina employees work to move healthcare toward precision medicine

Recently, Holly Snyder, an associate director of Medical Affairs at Illumina, submitted a manuscript she had co-authored with several big-name experts on behalf of the Medical Genome Initiative, a consortium co-founded by Illumina in 2019 to make clinical whole-genome sequencing more accessible for diagnosing rare disease.

Whole-genome sequencing, or more broadly, genomics, has the power to change lives with fast, precise diagnostics and targeted therapeutics. Yet healthcare providers have been slow to adopt genomic testing. The investment is significant, the data can be complex, and reimbursement is not guaranteed.

Publications can explain to medical associations, healthcare systems, insurance companies, or policy makers the purpose, value, and benefit of genomics. The Medical Genome Initiative papers help laboratories and clinicians integrate genomics into practice. The papers have also been cited in payer guidelines, which impact how and whether patients might be offered a test, or be reimbursed for one, or how technology might inform diagnosis or treatment.

Working with the Medical Genome Initiative is just one part of Snyder’s role at Illumina. A 13-year veteran of the company, she facilitates both short- and long-term projects, mostly around education and engagement with key opinion leaders. One large pediatric group enlisted her team to get its network of providers comfortable with the idea of genomics for routine care. Through a series of webinars, emails, and articles, they helped usher in an era of precision medicine with patient-facing providers. Short-term assignments might involve connecting a customer with an Illumina expert for consultation, or for possible collaboration on a retrospective study.

Illumina Medical Affairs is a global team of more than 30 experts that oversee educational activities, grants, research studies, and publications. They can help answer medical queries and interpret data. Many have been laboratory directors using Illumina products in their previous labs and can speak firsthand to the needs of our clinical clients. They serve as internal subject matter experts supporting the development of Illumina products so that each tool lands seamlessly in clinical labs. Their tool is clinical knowledge, and their goal is to improve the practice of precision medicine and maximize patient benefits.

The global Medical Affairs organization is divided by region, segment, and function. For example, the job can vary drastically by geography, as each country has its own political and precision medicine landscapes. Reimbursement for diagnostic tests is completely different in the privatized US versus a country with a national health system.

Snyder is part of the five-person team focused on reproductive health and genetic disease testing in the US and Canada. They cover inherited and rare genetic diseases (both adult and pediatric onset), reproductive health (including carrier screening, pre-implantation genetics, and non-invasive prenatal testing), cardiovascular and complex disease, and pharmacogenomics. Separate teams handle oncology and infectious disease.

The many paths to this career
While earning a Bachelor of Science in Biobehavioral Health at Pennsylvania State University, Snyder attended a guest lecture in an ethics class, given by a genetic counselor. That one lecture inspired Snyder to apply to graduate school and become a genetic counselor. She worked in high-risk obstetrics for eight years before starting at Illumina—a move that offered some professional flexibility during her husband’s military career.

Genetic counseling is not a prerequisite for a career in medical affairs; many of her teammates come from academic clinical labs and work more often with laboratory customers, helping them implement Illumina technology. “They’ve been in the trenches. They were lab directors and they know the pain points in standing up and validating tests,” says Snyder. “They can speak the language that our customers in labs speak.”

Illumina Medical Affairs Senior Director Dee McKnight, PhD, FACMG leads this group of colleagues, all with impressive pedigrees. Many of them are boarded geneticists with multiple certifications; they have enjoyed stints at prominent institutions such as Baylor College of Medicine, the Mayo Clinic, NIH, and SickKids Hospital in Canada as well as companies like GeneDx and Exact Sciences. Director Magalie Leduc, PhD, FACMG was once an inspector for the College of American Pathologists, implementing management systems and operational frameworks in high-complexity laboratories. Associate Director Jaime Lyn Lopes, PhD, FACMG taught human genetics to university students and led clinical validation efforts for WGS at a children’s hospital. Senior Staff Medical Science Liaison Livia Loureiro, PhD, a former professor at the University of Toronto, serves all of Canada, working with customers, commercial labs, and societies.

“This is a small but highly skilled team of PhDs, FACMGs [Fellow of the American College of Medical Genetics and Genomics], and genetic counselors with extensive clinical lab experience at leading client labs, giving them strong familiarity with our clients and the operations of these labs,” says Dee McKnight. “Many of us have dedicated our careers to communicating genetic testing results to clinicians and possess a comprehensive understanding of the diverse questions, concerns, and motivations that clinicians often have regarding implementing genetic testing in their practices.”

Helping customers understand and implement genomics
When a researcher with a cohort is searching for a study partner or a hospital needs assistance in educating providers, they can call Medical Affairs. When a lab director is looking for help justifying bringing sequencing in-house or an existing customer wants a newer Illumina technology, they can call Medical Affairs. “We can make the clinical case and say, here’s the literature and evidence, here’s the value to the patient, and here’s the cost effectiveness to the healthcare provider.”

Some institutions understand the value of the investment but get overwhelmed by the thought of paperwork, the consent process, or reimbursement. That’s why, Snyder explains, it is becoming increasingly important for Medical Affairs to work alongside Illumina’s Market Access team, which advocates for coverage. “Because all things lead to reimbursement and coverage. And if there isn’t coverage, or a way for hospitals to be compensated without patients paying, it doesn’t matter if it’s the greatest test on the planet. The patient’s options may still be limited.”

Last year, the American Academy of Pediatrics (AAP) updated their guidelines to recommend whole-exome or whole-genome sequencing as a first-line test for children with suspected global developmental delay or intellectual disability. Despite the AAP’s guidance, pediatricians did not immediately start ordering tests. Snyder didn’t expect the changes to happen right away but was surprised that on the whole, pediatricians weren’t more open-minded, and still aren’t.

“There is an idea that when you do an exome or genome, you’re going to get all this information you don’t know how to interpret. You won’t know how to handle variants of unknown significance.” Snyder says many doctors will refer patients to a genetics specialist, even though the wait time for genetic testing can be as much as 12 to 24 months, depending on where in the world a family lives. “I’m looking forward to a day when neurologists and pediatricians have accepted how important it is to overcome those uncomfortable things and try to get answers for patients and their families. Because in the end, that’s why we’re all here, moving precision medicine forward. A diagnosis and personalized care would mean the world to patients.”

Adds McKnight, “We are committed to seeing genomics—and multiomics—become a part of mainstream medicine so that any individual can get the right information at the right time, to drive their precision management and live their fullest lives.”

To find the Illumina “Genomics in Medicine” channel on Xpeer, the first and only accredited medical education app by the European Union of Medical Specialists, follow this link.

To read about Illumina’s global Patient Advocacy team, follow this link.

To learn about career opportunities at Illumina, follow this link.