Incidentalome
Encyclopedia
The incidentalome is the phenomenon of all possible incidental findings.The term was coined as an extension of incidentaloma
which refers to the incidental, often radiographic findings of masses or tumors whose significance and prognosis is therefore poorly understood. In the genomic era, the lack of prior probabilities regarding the clinical import of each genetic variant creates the likelihood of a large proportion of false positives, if genetic testing is not placed on a systematic quantitative basis.
"If practitioners pursue unexpected genomic findings without thought, there may be untoward consequences. Specifically, physicians will be overwhelmed by the complexity of pursuing unexpected genomic measurements, patients will be subject to unnecessary follow-up tests, causing additional morbidity, and the cost of genomic medicine will increase substantially with little benefit to patients or physicians, thus casting into question the benefit of genomic-based medicine."
http://aspe.hhs.gov/PHC/RFI/comments/53-1.pdf
The incidentalome raises a challenge for both the FDA approval of panels (e.g. SNP chips) of genetic tests as well as the substance of medical education in the genomic era. At this time, whether for screening a hundred genetic variants or even a full genomic, there are no clinical standards or regulatory requirements to post the overall risk of false positives on such testing (see, for example, Familywise Error Rate
).
Incidentaloma
In medicine, an incidentaloma is a tumor found by coincidence without clinical symptoms or suspicion. It is a common problem: up to 7% of all patients over 60 may harbor a benign growth, often of the adrenal gland, which is detected when diagnostic imaging is used for the analysis of unrelated...
which refers to the incidental, often radiographic findings of masses or tumors whose significance and prognosis is therefore poorly understood. In the genomic era, the lack of prior probabilities regarding the clinical import of each genetic variant creates the likelihood of a large proportion of false positives, if genetic testing is not placed on a systematic quantitative basis.
"If practitioners pursue unexpected genomic findings without thought, there may be untoward consequences. Specifically, physicians will be overwhelmed by the complexity of pursuing unexpected genomic measurements, patients will be subject to unnecessary follow-up tests, causing additional morbidity, and the cost of genomic medicine will increase substantially with little benefit to patients or physicians, thus casting into question the benefit of genomic-based medicine."
http://aspe.hhs.gov/PHC/RFI/comments/53-1.pdf
The incidentalome raises a challenge for both the FDA approval of panels (e.g. SNP chips) of genetic tests as well as the substance of medical education in the genomic era. At this time, whether for screening a hundred genetic variants or even a full genomic, there are no clinical standards or regulatory requirements to post the overall risk of false positives on such testing (see, for example, Familywise Error Rate
Familywise error rate
In statistics, familywise error rate is the probability of making one or more false discoveries, or type I errors among all the hypotheses when performing multiple pairwise tests.-Classification of m hypothesis tests:...
).