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A longstanding advocate for and pioneer in open science and data sharing, Rehm emphasized that genomic medicine requires global collaboration, active data sharing, and jointly curated knowledgebases. A key example is the Matchmaker Exchange, a federated platform that enables the sharing of candidate genes for rare diseases.
Despite advances in sequencing technologies, many patients with rare diseases still lack a genetic diagnosis. The Exchange facilitates connections between patients with shared pathogenic variants and similar clinical phenotypes, enabling new gene-disease discoveries. With participation from more than 200,000 researchers and clinical labs, the platform helped identify numerous novel gene-disease relationships.
Additionally, the use of automated algorithms like Talos, a Python variant prioritization tool that aids in the identification of relevant variants, has allowed for reanalysis of previously negative cases. Together, patients with undiagnosed rare diseases can finally receive long-awaited answers.
However, Rehm also addressed ongoing barriers to progress. For more common indications, such as cancer risk assessment and carrier screening, the challenges are often logistical and structural in nature rather than scientific. For example, many primary care physicians simply lack the time, training, or confidence to order and manage genetic tests effectively. She proposed shifting carrier screening to the preconception period and increasing the role of primary care providers in managing basic genetic testing as possible solutions. However, overcoming these hurdles may require additional infrastructure and access to genetic educational training at the institutional level.
By contrast, rare disease testing faces a different challenge ─ namely, the lack of reimbursement for genome-wide analyses such as whole exome or genome sequencing. This financial barrier often results in delayed or missed diagnoses, hindering the potential of genomics to transform care for symptomatic individuals.
Throughout her session, Rehm conveyed a strong message: Genomics is rapidly becoming a routine part of clinical practice and central to precision medicine. This shift will require a broader understanding of genetics across the healthcare system. She also underscored the immense potential for future discoveries, particularly in the non-coding regions of the genome and the thousands of genes yet to be implicated in diseases. “The opportunities are boundless,” she noted, encouraging healthcare professionals at all levels to become fluent in the language of genomics. Whether it comes to selecting the right test, communicating results with patients, or choosing the appropriate downstream care management, it will require coordination on all fronts from physicians, genetic counselors, and clinical laboratorians alike. “It’s an exciting time in clinical genomics,” Rehm concluded.
This engaging session set a powerful tone for the conference, emphasizing the global imperative to integrate genomics into healthcare and describing a future in which genomic insights are seamlessly embedded into everyday clinical decision-making.
