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 hornets nest of controversy.

The recommendations suggested that patients who have their genomes sequenced should be told of select incidental findingsgenetic risk factors for conditions unrelated to the reason they got their DNA sequenced in the first place. In a major departure from current norms in the nascent field of genome sequencing, 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 were also to be disclosed to childrens parents, counter to the longstanding idea that it is important to preserve an open futuremeaning doctors should wait until the patients are old enough to decide for themselves whether they would like to know their risk of breast cancer, for example.

Now, the responsecall it a backlash, call it a healthy debatehas begun, even as the guidelines begin to have an impact on the kind of testing being offered to patients. A critique was published last week in the journal Trends in Biotechnology. 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 Womens Hospital who co-led the working group that drafted the recommendations adopted by the American College of Medical Genetics and Genomics, said that he expected a vigorous public discussion about the guidelines and thinks the debate will benefit the field. But he added that he is surprised at how quickly things are already 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. All of the conditions on the list are for serious illnesses that are clinically useful, meaning that patients can take measures to prevent disease, detect it early, or decrease their risk.

Even though the companies have decided to allow patients to decline to learn the information, Green said it was a fantastic start.

I think as clinicians order this, they may see that its not troubling the patients who opt inand they maybe discover some lifesaving information, Green said. I think it will reassure the field.

As of May 1, GeneDx announced that it will integrate the panel of gene mutations into some of its tests, although it would allow patients to decline receiving the information. A second company, Ambry Genetics, is also integrating the panel of genes associated with the two dozen conditions into its sequencing results, and will allow patients to opt out.

The opt-out provision reflects a main component of the critique published last week by two ethicists from Stanford University School of Medicine, which asserts that saying patient wishes not to learn certain genetic information should be over-ridden by physicians for the patients own good is weakly supported in modern clinical ethics.

The Stanford ethicists also question the reasoning of Greens working group, which suggested that it would be expensive and logistically onerous for laboratories and genetic counselors to implement the extra testing only conditionally, depending on the patients desire.

See the rest here:
Should patients be told of unexpected risk factors lurking in their DNA?

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