The American College of Medical Genetics and Genomics (ACMG) sets the national benchmarks for ethical use of genetic information in healthcare. In their newest guidelines, released April 1, they recommend patients be allowed to opt-out of having their genome screened for 24 genetic risk factors for specific medical conditions.
The 24 conditions were picked because the college determined the information was actionable: if you test positive for one of these mutations, there are treatments or lifestyle changes that can cure of prevent the disease.
Originally, the college thought all patients who get their genomes screened, presumably for a cancer diagnosis or other condition, should be told their risk status for these 24 if they wanted to or not.
The ACMG decided to change their position for a variety of reasons, the most important of which is the incidental finding of a risk. Dina Fine Maron at Scientific American explains:
Sequencing has vast power to uncover a wide range of underlying genetic mutations, but in many cases we are still not sure exactly what these mutations mean… Sometimes those genetic clues provide an early warning that will save a life, but they can also be wrong, leading to unnecessary stress and risky treatments.
But some geneticists within the community disagree because patients who opt-out of this testing will be deprived of information that could possibly save their lives. As Harvard Medical School professor Robert Greene told Maron:
“I worry that allowing this opt out will disproportionately impact the disenfranchised. It will become too easy for a lazy doctor just to say ‘ok, we’ll skip [this important testing]… Frightened patients, those less well-educated patients or perhaps those distracted by a child’s disease will be the ones that opt out.”
But shouldn’t patients have more choice than all or nothing? What about a selection of variants? If tests for these 24 conditions are truly as important as the college thinks, and patient consent is equally so, surely a ‘menu’ option is the next step. Could the problem be increasing provider workload? GenomeWeb explains the current set up:
Within this framework, the onus will fall on the clinician who requested clinical sequencing to explain the opt-out option and its potential drawbacks or benefits while obtaining informed consent for clinical sequencing.
It remains totally unclear if insurance companies would pay for the additional counseling. And, when the list of recommended gene variants grows, as the ACMG expects it to, that side of patient education will only become more burdensome to providers’ resources.
At any rate, it seems rather plausible that a patient might want to know her status for colon or thyroid cancer risk, but not for neurodegernerative diseases. Let’s hope the next round of ACMG recommendations go further.
Additional Resources:
- What should be done with unsettling ‘incidental findings’ in gene screens?, Genetic Literacy Project
- New York Times recycles old news on ethics of genetic screening, Knight Science Journalism Tracker
- Talking about genetic disorders: How much information do we need—or want?, Genetic Literacy Project
