a more holistic approach within rare disease communities.


Need for a Standardized Approach

In the intricate realm of rare diseases, the focus often narrows down to single gene mutations, particularly within our SYNGAP1 community. This myopic approach has far-reaching consequences, shaping the trajectory of research and leading to the formation of splinter groups with personal agendas, ultimately risking the unity of collective efforts.

Addressing concerns about genetic changes and mutations is paramount for progress in rare diseases. Clinical trial failures, with potential life-or-death implications, underscore the risks associated with an insufficient understanding of gene mechanisms. The imperative to reclassify mutations demands caution, urging increased clinical research within the community to avoid hasty decisions that could lead to devastating consequences.

In the rapidly evolving realm of genomic testing, a critical concern emerges—the lack of standardized classification for genetic variants, particularly for rare disease patients. The recent overview from the Clinical Laboratory Improvement Advisory Committee (CLIAC) Next Generation Sequencing (NGS) Workgroup sheds light on the myriad challenges facing the industry, advocating for a comprehensive overhaul in the approach and regulation of genomic testing. As the Workgroup provides input to CLIAC for recommendations to esteemed organizations like the CDC, CMS, and FDA, it underscores the urgency of addressing these issues to ensure the quality and reliability of next-generation sequencing-based testing in clinical laboratory settings. The call for standardized practices and robust regulatory frameworks resonates, envisioning a future where genomic testing not only advances but is uniformly beneficial for those with rare diseases.

The report highlights the ambiguity surrounding the classification of variants in databases like ClinVar, emphasizing the urgent need for standardized practices. The consequences of misclassification not only hinder physicians’ ability to order appropriate tests but also subject patients to unnecessary and conflicting procedures. Moreover, the report underscores the profound impact that a change in a gene variant can have on the entire scientific perspective, posing a significant hurdle in the design and success of clinical trials, with an elevated risk of failure.

The call for outcomes data from studies becomes imperative in addressing these challenges. Defining outcomes not only in terms of medical results but also considering the holistic impact on patients and their families is crucial. The genomic space must prioritize the inclusion of minimal outcome measures in all research studies, with physicians incentivized to report outcomes to a central database. However, this necessitates reimbursement to ensure consistent reporting, emphasizing the need for systemic support.

Organizations like the Center for Genomic Interpretation (CGI) support the views of the CLIAC NGS Workgroup, recognizing the urgency of proactive measures to rectify these issues. Guidelines and education for both providers and patients are identified as critical components to enhance understanding of available tests. Additionally, there is a pressing need for a better understanding of clinical utility through long-term outcome studies, meta-analyses, and institution-based test utilization reviews. The suggested one-on-one discussions between laboratory directors and ordering physicians would foster a collaborative approach to address these challenges.


Individualized Medicine’s Catch 22

The urgency to spotlight these issues is evident, as desperate families navigate a landscape fraught with challenges. Patience becomes a vital virtue, emphasizing the need to prioritize collective well-being over immediate individual gains. The heartbreaking reality within the SYNGAP1 community reflects the nightmare of a myopic focus on individualized solutions.

The pursuit of individualized medicine within the rare disease community raises ethical concerns and threatens to disrupt the delicate fabric of these communities. Biotech companies fixated on individual cases risk dismantling the cohesion of rare disease communities, diverting resources away from the majority in need.

The distinction between individualized medicine and precision medicine becomes crucial in the context of rare diseases. While the promise of tailoring treatments is alluring, it has inadvertently become a double-edged sword. The article “Precision and Personalized Medicine: What their current definition says and silences about the model of health they promote Implication for the development of personalized health?” questions the definition of precision medicine provided by the US National Human Genome Research Institute, emphasizing the risks associated with its current practice and development. It criticizes the prevalent use of large volumes of biological data for individual purposes, aligning closely with the biomedical model of health and potentially reducing individuals to biological components. The authors advocate for a more comprehensive, precise, and personalized approach to health, integrating environmental, socio-economic, psychological, and biological determinants in line with the biopsychosocial model.

The pursuit of individualized medicine, in its current trajectory, threatens to disrupt the delicate fabric of these communities. It is paradoxical—accelerating treatments at the potential cost of community well-being. Destructive consequences on research networks and collaborative efforts emerge due to self-interests, diverting community funds for personal gain.

The catch-22 inherent in the pursuit of individualized medicine warrants acknowledgment. A reconsideration of the balance between personalized treatments and the greater good becomes imperative. Ethical and community-driven practices must take precedence to avoid further fractures and divisions within these vulnerable communities.

An opportune moment for reflection within the medical community beckons us to confront the unintended repercussions of medical pursuits. Striving for a more inclusive, community-centric approach to healthcare innovation is paramount.


High Costs, Limited Benefits

The drawbacks of individualized medicine extend beyond the patient communities, impacting both the pharmaceutical industry and investors. The high-risk nature of individualized medicine dissuades seasoned finance investors, yet desperate families may inadvertently bleed their communities dry. The deceptive nature of individualized medicine, catering primarily to wealthy families, adds strain to companies working toward community treatments.

The benefits of individualized medicine fail to outweigh the costs for anyone involved. Biotech companies and academic partners may profit, leaving minimal chances for families who invested or started organizations for their own hidden agendas to successfully obtain a treatment. This trajectory signals a worrisome direction for healthcare, demanding a shift towards a more holistic and community-driven approach.

In questioning the definition and practice of precision medicine, we advocate for a more comprehensive and precise approach. Precision medicine should extend beyond biological data, considering environmental, socio-economic, psychological, and biological determinants. By anchoring precision medicine in a broader model, we can envision a personalized and more precise healthcare that integrates individual skills and life contexts.

The journey toward precision medicine must be guided by a commitment to a comprehensive understanding of health, fostering a healthcare system that addresses the multifaceted needs of individuals. In navigating the crossroads, the collective responsibility of the medical community becomes paramount, ensuring that advancements benefit not only individual cases but the broader rare disease communities in their entirety.