When a national organization of genetic specialists took a stab at clarifying one of the biggest issues facing the integration of DNA sequencing into medicine in March, the bold guidelines seemed destined to stir up a hornet’s nest of controversy.
The recommendations suggested that patients who have their genomes sequenced should be told of select incidental findings, genetic risk factors for conditions unrelated to the reason they got their DNA sequenced. In a major departure from current norms, the group said patients should not have a choice about which risks they wanted to know, and risks for diseases that do not strike until adulthood should be disclosed to children’s parents, instead of waiting until the patients are old enough to decide what they want to know.
Now, the response — call it a backlash, call it a healthy debate — has begun, even as the guidelines begin to have an impact on the kind of testing being offered to patients.
A critique was published earlier this month in the journal Trends in Biotechnology, and two differing perspectives on the guidelines were published in the journalScience. Meanwhile, two companies have announced they are adopting the guidelines, though with an opt-out provision.
Dr. Robert C. Green, a medical geneticist at Brigham and Women’s Hospital who co-led the working group that drafted the recommendations adopted by the American College of Medical Genetics and Genomics, said he expected a vigorous public discussion about the guidelines and thinks the debate will benefit the field.
Questions of disclosure
But he added that he is surprised at how quickly things are moving forward.
“Some of the recommendations from professional organizations have taken 10 years to actually start being practiced,” Green said.
In this case, within weeks, two commercial labs announced they would integrate the new panel of genetic risk factors into their sequencing tests, which include mutations that cause rare heart problems or cancers. Although they allow patients to opt out of receiving the information, Green said it was a fantastic start.