2023년 6월 7일
In her role as a genetic counselor and associate director of Medical Affairs at Illumina, Holly Snyder routinely meets with health care providers and medical societies to better understand knowledge gaps and needs for education. Her team is focused on developing accurate and relevant tools to support continued education in genomics.
“We do know that the general medical school programs have well-established course requirements and that adding in intensive genomics training isn’t currently feasible,” says Snyder. A systematic evidence review in 2020 found that, despite overall positive views of genomic medicine, nurses and physicians report overall low knowledge of genetics and limited confidence in managing and interpreting results relevant to their area of practice. A retrospective study from one medical school program in the US surveyed physicians in multiple specialties. Overall, respondents reported relatively low comfort with applying medical genomics in their clinical practice and they support the expansion of genomics training to include an emphasis on clinical utility.
Dr. Donald L. Gilbert works in pediatric neurology at Cincinnati Children’s Hospital Medical Center. “In my subspecialty, several published surveys show doctors in practice as well as doctors in residency specifically desire more training in genetics,” he says, explaining that implementing genomics in practices like his is incredibly complex. When the neurology team sees an undiagnosed patient with a probable monogenic disease, they know they need better tools and guidance. “Should I start with a panel? Which one? Is it better to go early to whole-exome or whole-genome sequencing? What if one or both biological parents are not available?”
Receiving test results doesn’t always answer their questions—it can actually produce more ambiguity. “What’s the next step with variants of unknown significance?” Gilbert says. “How accurate are the predictions of pathogenicity in the reports by the commercial labs? Ultimately, how can we shorten the diagnostic process for our patients and get to answers sooner? And, as busy doctors, how can work be streamlined for us as well?”
Across the globe, there is a growing awareness that medical schools haven’t increased genomics education in proportion with the advances in next-generation sequencing technology, and this gap may delay our potential to realize precision and personalized medicine.
"Doctors in practice and in residency specifically desire more training in genetics."
There’s an app for that
In March 2022, Snyder and her Medical Affairs colleague Maria Martinez-Fresno began talking to Xpeer, a Spanish company that developed an educational app they describe as “the Netflix of medical education.” The Xpeer app gives health care providers access to microlearning courses on a variety of topics, some of which are accredited by the European Accreditation Council for Continuing Medical Education, while others are not.
At the same time, the Illumina Medical Affairs team had been working with neonatal intensive care unit (NICU) providers to support the implementation of whole-genome sequencing (WGS) for newborns with suspected genetic disorders—particularly Israel’s National Program to Accelerate Diagnoses of Critically Ill Newborns, which included 18 hospitals across the country. In speaking with various pediatricians and neonatologists, the team heard firsthand that health care providers in the NICU may have limited knowledge and comfort with implementing WGS into patient care. “Health care providers go to conferences and pick up a little bit of genetics here and there, but they may not have access to relevant genetics training to understand when testing is appropriate or how to navigate a test report,” says Snyder. They need training and resources in multiple forms, including point-of-care tools.
An entire canon of informative videos already existed—Illumina regularly hosts webinars with key opinion leaders on salient topics in genetic disease testing—but they weren’t collected in a single place. So Snyder and Martinez-Fresno set about writing a curriculum, cataloging existing content, and developing and recording original material, either in-house or alongside medical experts.
Illumina’s channel on the Xpeer app is called Genomics in Medicine. In the module “Tools to support genomic sequencing in pediatric care,” a variety of brief videos and supporting resources are available to help professionals effectively implement genomic sequencing into their practice.
The material is completely agnostic of Illumina technology, Snyder explains. It addresses many questions—for example, why is WGS important? What does the evidence tell us? What do you need to focus on when reading a report? What resources are available to support providers? What are the key guidelines that discuss WGS across the globe? Users can skip around and choose the content that is most interesting and relevant to them.
The module faculty includes Illumina experts as well as genomics leaders such as Anna Lindstrand, MD, PhD, head of the Clinical Genetics diagnostic laboratory at Stockholm’s Karolinska University Hospital; David Bick, MD, principal clinician for the Newborn Genomes Programme at Genomics England; Daphna Marom, MD, deputy director and head of the Pediatric Genetics Clinic at the Genetics Institute and Genomic Center at Tel Aviv Sourasky Medical Center; and Monica Wojcik, MD, attending physician in both the divisions of Newborn Medicine and Genetics and Genomics at Boston Children’s Hospital.
The app launched this spring, featuring subtitles and voiceovers in Portuguese, Spanish, German, and French. Illumina’s channel, while not accredited, covers genomics in pediatric care. Future topics may include genomics in cardiology and oncology.
Other resources in a rapidly evolving field
As a leader in genomics, Illumina supports unbiased and accurate genomics education in the rapidly evolving field.
Beyond Xpeer, the Medical Affairs team has developed genomics resources for other clinical areas. The ObGProject provides helpful resources that women’s health and primary care professionals can check from their phone. Its sister company, ObGConnect, just launched a “Curbside Consult” guide to routine noninvasive prenatal testing. In cardiology, the Cardio Nerds podcast was created by specialists from several different institutions and features a series of episodes on cardiovascular genomics. A podcast series available on YouTube provides education around somatic testing in oncology.
Finally, other efforts across the US are focused on developing genomics education for health care providers: The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) was formed 10 years ago with the aim to improve health care providers’ genomic literacy and enhance the effective practice of clinical genomic medicine. Along with ISCC-PEG, the National Human Genome Research Institute will host an education week in June 2023 to bring awareness to available resources for health care providers.
