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Advancing Genomics Education: Resources, Collaboration, and Awareness for Healthcare Providers


As a genetic counselor and associate director of Medical Affairs at Illumina, Holly Snyder regularly engages with healthcare professionals and medical organizations to gain insights into areas where knowledge is lacking and educational requirements exist. Together with her team, she dedicates efforts to creating precise and pertinent resources aimed at facilitating ongoing learning in the field of 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,” said Snyder.
In a comprehensive review of evidence conducted in 2020, it was discovered that nurses and physicians, despite generally holding positive views about genomic medicine, expressed limited knowledge in genetics and lacked confidence in managing and interpreting relevant results within their respective areas of practice.

A retrospective study conducted at a medical school program in the United States surveyed physicians from various specialties, revealing that respondents generally felt uncomfortable applying medical genomics in their clinical practice. They also expressed support for expanding genomics training with a particular focus on its clinical utility.
Dr. Donald L. Gilbert, a pediatric neurologist at Cincinnati Children's Hospital Medical Center, acknowledges the need for increased genetics training in his subspecialty. He points to multiple published surveys indicating that both practicing doctors and those in residency desire more comprehensive education in genetics. Implementing genomics in fields like pediatric neurology presents significant complexity.

When faced with undiagnosed patients suspected of having a monogenic disease, the neurology team recognizes the necessity for improved tools and guidance. Questions arise regarding the appropriate approach, such as starting with a panel and determining the best choice, or opting for early whole-exome or whole-genome sequencing. Challenges also arise when one or both biological parents are unavailable for testing.
However, receiving test results doesn't always provide definitive answers and can actually introduce further uncertainty and ambiguity to the situation.
“What’s the next step with variants of unknown significance?” said Gilbert. “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?”
Internationally, there is an increasing recognition that medical schools have not adequately elevated genomics education to match the rapid advancements in next-generation sequencing technology. This disparity has the potential to impede our progress in achieving precision and personalized medicine.
In March 2022, Holly Snyder and her colleague Maria Martinez-Fresno from Illumina's Medical Affairs division initiated discussions with Xpeer, a Spanish company known for developing an educational app likened to "the Netflix of medical education." This collaboration aimed to bring forth an innovative solution. The Xpeer app offers healthcare providers access to microlearning courses encompassing various subjects, with some courses being accredited by the European Accreditation Council for Continuing Medical Education.
Simultaneously, Illumina's Medical Affairs team had been actively engaged with neonatal intensive care unit (NICU) providers to facilitate the integration of whole-genome sequencing (WGS) for newborns suspected of genetic disorders. Notably, this included supporting Israel's National Program to Accelerate Diagnoses of Critically Ill Newborns, involving 18 hospitals across the country. Through direct conversations with pediatricians and neonatologists, the team identified a lack of knowledge and confidence among NICU healthcare providers regarding the implementation of WGS in patient care.

Snyder emphasizes that while healthcare providers may gain fragmented genetic insights from conferences, they often lack access to comprehensive and relevant genetics training that enables them to make informed decisions about testing and interpret test reports. Thus, there is a need for diverse training resources, including point-of-care tools.
Although Illumina regularly conducts informative webinars featuring key opinion leaders discussing genetic disease testing, there was no centralized repository for these valuable resources. To address this gap, Snyder and Martinez-Fresno took the initiative to develop a curriculum, catalogue existing content, and create original material by collaborating with medical experts both within and outside the organization.
Illumina's dedicated channel on the Xpeer app, called "Genomics in Medicine," offers a module specifically focused on "Tools to support genomic sequencing in pediatric care." This module provides concise videos and supplementary resources to assist professionals in effectively incorporating genomic sequencing into their practice.
Importantly, the material featured on the app is not biased towards Illumina technology. It covers a range of relevant topics, such as the importance of WGS, evidence-based insights, key considerations when reading test reports, available resources for support, and global guidelines pertaining to WGS. Users have the flexibility to navigate through the content and select what is most interesting and applicable to their needs.
The faculty contributing to the module includes experts from Illumina, as well as renowned genomics leaders such as Dr. Anna Lindstrand, the head of the Clinical Genetics diagnostic laboratory at Stockholm's Karolinska University Hospital; Dr. David Bick, the principal clinician for the Newborn Genomes Programme at Genomics England; Dr. Daphna Marom, the deputy director and head of the Pediatric Genetics Clinic at the Genetics Institute and Genomic Center at Tel Aviv Sourasky Medical Center; and Dr. Monica Wojcik, an attending physician in the divisions of Newborn Medicine and Genetics and Genomics at Boston Children's Hospital.
The app was launched in the spring, featuring subtitles and voiceovers in Portuguese, Spanish, German, and French. While Illumina's channel on the app is not accredited, it specifically covers genomics in pediatric care. Future topics may include genomics in cardiology and oncology.
Illumina, as a prominent figure in the field of genomics, actively promotes impartial and accurate genomics education to keep pace with the rapidly evolving landscape.
In addition to their collaboration with Xpeer, Illumina's Medical Affairs team has developed genomics resources tailored for various clinical domains. The ObGProject offers a range of valuable resources accessible via mobile devices for women's health and primary care professionals. Its sister company, ObGConnect, recently introduced a "Curbside Consult" guide specifically focusing on routine noninvasive prenatal testing.

In the realm of cardiology, the Cardio Nerds podcast, featuring specialists from different institutions, delves into episodes dedicated to cardiovascular genomics. Furthermore, a podcast series available on YouTube provides educational content on somatic testing in oncology.
Notably, efforts across the United States are also underway to enhance genomics education for healthcare providers. The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG), established a decade ago, strives to enhance healthcare providers' genomic literacy and promote the effective practice of clinical genomic medicine. Collaborating with ISCC-PEG, the National Human Genome Research Institute has planned an education week in June 2023, aiming to raise awareness about available resources for healthcare providers.