Sometimes patients are genuinely unsure whether a symptom is medically relevant or simply part of who they are.
Examples:
Sometimes a symptom is deliberately left unspoken because of embarrassment, fear, family dynamics or cultural beliefs.
Examples:
Sometimes the symptom has already been dismissed so many times that the patient no longer believes it matters.
“Every doctor said it wasn’t related.”
“Every doctor just ignored it.”
“So eventually… I stopped mentioning it.”
An apparently insignificant symptom may become relevant — or even crucial —
for variant prioritisation during genomic analysis.
It may also acquire new meaning
after the primary diagnosis,
providing additional insight
for the patient
or the family.
An apparently insignificant symptom
may become relevant — or even crucial —
for variant prioritisation
during genomic analysis.
It may also acquire new meaning
after the primary diagnosis,
providing additional insight
for the patient
or the family.
THE METHOD
Proactive listening
During every consultation, we pay close attention to every clinical detail reported by the patient.
We actively explore what may have been overlooked by asking questions such as:
“Are there any symptoms or clinical signs that you may never have mentioned,
or that previous doctors considered unrelated?”
Variant on hold
A potentially relevant variant that does not yet fully match the phenotype is not necessarily discarded.
Instead, we keep it on hold, continue asking targeted clinical questions, and reassess it as new information emerges.
Sometimes after the first report has been delivered.
Sometimes during a follow-up consultation.
Sometimes even later.
About this Clinical Insight
A seemingly minor clinical detail can sometimes reshape the interpretation of an entire diagnostic journey. This Clinical Insight explores how clinical context influences genetic diagnosis, particularly in patients with rare diseases or unresolved conditions. While technologies such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) generate genomic data, the clinical significance of that data depends on careful phenotypic interpretation and medical reasoning. Learn more about our Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS) and explore our complete Genetic Testing Portfolio to understand how different genomic approaches can support complex diagnostic pathways.