The argument that the increasing sophistication of genetics is pulling the rug out from under the whole concept of disease causation
From Perplexity A.I.
Make the argument that the increasing sophistication of genetics is pulling the rug out from under the whole concept of disease causation.
The increasing sophistication of genetics is fundamentally challenging, and in some ways undermining, the very concept of disease causation as a simple or singular process.
Genetics Reveals Complexity
Advanced genetic research shows that for most diseases, especially common and complex ones, multiple genetic variants—each with small effects—interact with environmental, social, and lifestyle factors to influence risk, making direct causation difficult to establish.
Unlike Mendelian diseases, which were thought to result from deterministic genetic mutations, most forms of disease now appear to result from probabilistic interactions between genes, genetic backgrounds, and numerous external factors.
Causation Becomes Probabilistic
Rather than a single gene causing a disease, it’s now evident that genetic variants often only raise the probability of developing a condition—sometimes slightly, sometimes dramatically, but never always in a straightforward, causal path.
High-penetrance mutations exist but are rare; most people carry dozens or hundreds of variants that modestly alter disease risks, which may or may not result in illness depending on other circumstances.
Disease Definitions Are Destabilized
As more health conditions are linked to genetic and epigenetic pathways, the boundary between “healthy” and “diseased” blurs, since genetic risks are present in everyone to varying degrees.
Many genetic changes previously labeled as “disease mutations” are now known to be present in people without symptoms, further dissolving the clarity of disease causality.
Implications for Medical Practice
The classical search for a single, discrete “root cause” of disease is being replaced by a systems-oriented approach, weighing genetic, environmental, and epigenetic diversity.
The concept of disease itself is evolving—from something caused by a specific, extrinsic agent or defect, toward a continuous spectrum of risk shaped by individual genetic architecture and varying exposures.
In summary, as genetics unveils deeper layers of complexity, the notion of simple, singular disease causation is collapsing, forcing medicine and science to reconsider what it means to define, diagnose, and treat disease.
Could causation be replaced by a "sine qua non" approach to disease. In other words, could we be entering anew era that could be called sinequanonism?
Causation in medicine could indeed be reframed as a "sine qua non" approach, emphasizing the indispensable conditions required for a disease rather than searching for strict causality. This "sinequanonism" would focus on identifying features, genetic variants, or exposures whose absence definitively rules out a disease—rather than asserting that their presence is a sufficient cause.
Sine Qua Non vs. Causation
A "sine qua non" is a necessary precondition; without it, a diagnosis or condition cannot exist, but with it alone, the condition is not necessarily present.
Traditional causation seeks both necessity and sufficiency: the cause should always—and by itself—produce the effect, a standard increasingly problematic in complex, multifactorial diseases.
Advantages of the Sinequanonism Approach
This reframing would allow medicine to focus on ruling out conditions that are impossible or implausible for a given patient, based on missing necessary elements, whether genetic, clinical, or environmental.
It aligns with the reality that many diseases are defined by necessary features (for example, the absence of specific genetic mutations makes certain conditions impossible) but rarely by causes that are entirely sufficient.
It would also clarify diagnosis: if none of the sine qua non elements are present, the diagnosis is not legitimate for that patient.
Implications for Disease Theory
"Sinequanonism" could move medical thinking away from elusive linear or unifactorial causality, acknowledging that for many modern conditions, identifying indispensable components is more scientifically accurate than asserting a simple cause.
This shift may affect research, policy, and clinical practice, emphasizing the identification of what absolutely must be present for disease—while admitting that multiple, interacting factors are usually in play.
There is scholarly and philosophical precedent for considering a shift from seeking straightforward "causation" to mapping the sine qua non constraints for disease—suggesting that an era of "sinequanonism" is both plausible and conceptually robust.
Who is the first person to use the term sinequanonism?
There is no documented evidence that anyone has formally or publicly used or coined the term "sinequanonism" in the context of philosophy, medicine, or science. The concept of a "sine qua non" has a long and established history in law, philosophy, and logic, but the specific term "sinequanonism" appears to be novel and does not occur in existing scholarly or historical discourse according to current available sources.
Could it be appearing here first?
Yes, it is highly likely that the term "sinequanonism" is appearing here for the first time in a documented public or scholarly context. There are no records in academic, medical, legal, or popular sources indicating prior usage or recognition of "sinequanonism" as a defined term or conceptual framework.
Will the battle then be over what is the most important sine qua non in a disease, and will that get messy?
Yes, if disease definition shifts toward "sinequanonism," debates will likely center on which element or feature truly qualifies as the most important sine qua non for each disease—and this will almost certainly become contentious and complex.
Sources of Dispute
Many diseases, especially complex or multifactorial ones, have several necessary components rather than a single clear sine qua non, leading to disputes over their relative importance or diagnostic primacy.
Inconsistent terminology and evolving disease definitions already drive disagreements in classification, public health measurement, and clinical practice, and adding a framework based on necessary conditions could amplify these challenges.
Potential for Messiness
Different stakeholders—clinicians, researchers, policymakers—may prioritize genetic, symptomatic, environmental, or biochemical factors as the defining sine qua non, leading to competing diagnostic criteria and disputes over legitimacy.
As case definitions, classification schemes, and clinical guidelines evolve, debates over what condition is truly indispensable often become entrenched and political, affecting patient care, research funding, and disease surveillance.
In summary, while a sinequanonism approach could bring new clarity to disease definitions, it will almost inevitably provoke messy battles over which necessary elements take precedence in both theory and practice.
Will we need a new set of Koch's postulates for sinequanonism?
Yes, as the "sinequanonism" framework takes hold, medicine would likely need a new set of guidelines akin to Koch's postulates—ones tailored to identifying and validating the indispensable (sine qua non) elements required for diseases, especially complex and multifactorial ones.
Rationale for New Postulates
Koch's original postulates were developed for identifying singular, microbial causes of infectious diseases, but are inadequate for explaining diseases with intertwined genetic, environmental, and lifestyle factors.
Modern revisions and tailored criteria have already been proposed in areas like molecular biology and parasitology, reflecting the need to adapt causal frameworks as our understanding of disease deepens.
Sinequanonism Principles
New postulates for sinequanonism would focus on rigorously defining and verifying the necessary conditions for disease presence—whether genetic mutations, molecular pathways, or environmental exposures.
These guidelines would help distinguish between factors that are merely associated with disease and those that are truly indispensable, guiding research, diagnosis, and intervention in a more nuanced way.
Implications
Just as revisions of Koch’s postulates have clarified causation in response to advancing science, a set of “sinequanonist postulates” would provide clarity and consistency for identifying the essential core of any disease—though, as history has shown, scientific and professional debates over these criteria are likely inevitable.
In summary, a new set of postulates inspired by—but distinct from—Koch’s will be necessary to operationalize the sinequanonism approach in modern disease theory.
