Incidentalome: Accidental Gene Findings You May Not Want To Know

[xchrom]

http://commonhealth.wbur.org/2012/03/incidental-genome

You’ve heard of the genome — a full collection of DNA — and perhaps the proteome, a full complement of proteins. Now, I’d like to introduce a delicious new word that may soon be relevant in many a doctor’s office: The incidentalome.

What is it? Dr. Robert Green , a medical geneticist at Brigham and Women’s Hospital and Harvard Medical School, offers this helpful analogy: Say you get an X-ray because you think you might have cracked a rib and the radiologist notices a shadow on your lung that appears to be a tumor. That finding is “incidental,” because it turned up even though you weren’t looking for it.

Translate that to the dawning era of genomics in medicine. As DNA analysis gets exponentially cheaper and eventually becomes routine in our care, the labs that sequence our full genomes will be turning up all sorts of extraneous information. A scan ordered for, say, a heart problem could turn up a genetic variant that means you’re predisposed to cancer. Or that you’re at heightened risk for diabetes or Alzheimer’s disease.

What to do? The gene finding only suggests an increased or decreased risk, mind you, not a certainty. Should the lab that finds it tell the doctor who’s treating you? And should your doctor tell you?

[liberal N proud]

1. If the doctor has the patients best interest at hand, they should disclose the condition

Insurance companies will probably argue against that because it might lead to higher cost.

[hedgehog]

2. I suspect that very few of the findings will be very useful

because I suspect that it will turn out that many conditions have multiple sets of causes. We may find, for example, that ingrown toe nails tend to occur when you have gene A+ but not Q- and only will express if you are low in selenium. Or, you could get ingrown toe nails if you have A+, Q- and ZZ12.

I say this because my family carried a genetic variation that is associated with a number of conditions, but can't be shown to actually cause any one of them. Many of these conditions have several different causes.