Expect Questions From Patients

Get Permission

Conscientious doctors are unlikely to say yes to a patient’s request for full genome sequencing,” Theodora Ross, MD, PhD, wrote in The New York Times.1 Dr. Ross, Director of the Cancer Genetics Program at the University of Texas Southwestern Medical Center in Dallas, was writing about the current limitations of genetic testing and the futility of germline sequencing as a means of assessing breast cancer risk.

The issue of genetic testing was in the news following publication of a study in The New England Journal of Medicine demonstrating that mutations in the PALB2 gene increased the risk of breast cancer and that risk might overlap with the risk for those with BRCA2 mutations.2

‘Luxury Purchase’

So how can physicians discourage patients from seeking whole-genome sequencing? “They can say, ‘If you have the money, you can pay for it, but it is going to cost you $23,000.’” That would include the roughly $2,000 to get the data and many thousands more to have it interpreted, and may in fact be a low-ball estimate.

“Insurance companies don’t and shouldn’t pay for this,” Dr. Ross said, “because it’s currently a luxury purchase,” with results raising more questions than can be answered. She advised physicians to make sure patients understand that they might find out they have conditions like Huntington’s disease.

Stored Data

“There is so much more research to do, but I would predict that ultimately people will undergo genome sequencing and the data will be stored, and then when new genes come up and we discover their link to cancer or some neurodegenerative syndrome, you can just go to the stored data and see if the ‘new’ gene is mutated,” Dr. Ross said.

For now, there are multigene panels that can screen for mutations in BRCA1, BRCA2, and several other genes like PALB2 and help provide women with estimates of their breast cancer risk. Also contributing greatly to those estimates, Dr. Ross stressed, is the “low-tech” family history. ■

Disclosure: Dr. Ross reported no potential conflicts of interest.


1. Ross T: Cancer and the secret of your genes. New York Times, August 16, 2014.

2. Antoniou AC, Casadei S, Heikkinen D, et al: Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371:497-506, 2014.

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