Consider the incidentaloma that I have discussed in previous notes (see: How to Avoid the Risks of a CT Incidentaloma; More (and Interesting) Discussion about Incidentalomas; CT Scans May Be Too Efficient in Detecting Pulmonary Emboli). It's a benign lesion often discovered on an incidental basis during an imaging study while looking for some other more serious problem. Such lesions should often remain undiscovered because, once reported, physicians feel a compulsion to "work them up" and treat them as in surgical resection. Such actions may have unforeseen consequences for the patient because "the more you do, the more you do." In other words, there can be complications associated with the treatment of benign lesions.
Next, consider the genome defined as the haploid set of chromosomes in a gamete or microorganism, or in each cell of a multicellular organism. We now have the capability with Next Generation Sequencing (NGS) and, soon, whole genome scanning, to read and record an individual's entire genome. This may be prompted by physicians seeking genetic clues to a patient's current disease. However, such an analysis may also turn up incidentally other current or future health problems in the genetic code. What portion of all of this new genetic information should be shared with the patient/consumer by physicians?
According to Dr. Robert Green, now is the time for the medical community to start figuring out its own standards for what to genetic information to share with patients. To help launch the discussion, he published a paper in the journal Genetics in Medicine (see: Exploring concordance and discordance for return of incidental findings from clinical sequencing) that he describes as a “quick and dirty poll” of how medical specialists feel about incidental findings and what results to share with patients (see: Incidentalome: Accidental Gene Findings You May Not Want To Know). In his paper, he combines the words incidentaloma and genome to create a new word, incidentalome, to capture the idea of the discovery of incidental finding when genes are scanned.
There is one major difference between, say, the disclosure of a benign hamartoma of the lung discovered in a CT scan and the "disclosure" of data discovered by a whole genome scan. In this first instance, the discovery of the lung lesion is pretty close to the whole story. The knowledge of one's DNA sequence only reveals the base pairs in the DNA. A critical next step is the interpretation of what this information means in terms of normality and abnormalities of the body. This is subject to interpretation and knowledge about the interpretation of what a genome scan means for the health of the patient changes on a daily basis. In other words, today's interpretation is not necessarily the same as tomorrow's interpretation.