Controversial guidelines suggest patients should be informed what risks lurk in their DNA

Posted: May 27, 2013 at 8:51 pm

Doctors who sequence a patients full set of genes for any medical reason should look for two dozen unrelated genetic conditions and tell the individual if they find any of them lurking in the DNA, according to a long-awaited report led by a medical geneticist from Boston.

Released Thursday morning, the recommendation by an organization of genetics specialists is the first real effort to delineate how broadly testing laboratories should look for additional potential genetic problems, and the specific information that doctors should tell patients.

Should patients whose genome is sequenced to help diagnose a cardiac condition be tested for a gene that predisposes them to later develop breast cancer, or one that will cause them to have a life-threatening reaction to anesthesia?

Yes, the new guidelines suggest, even if that person is a child.

The guidelines were issued as rapid technology advances have made whole-genome sequencing cheaper and fasterenough so that genetics specialists predict that within a few years, it will be a routine part of patient care.

Im pretty proud of this, as the first response by an organized medical body to the completely revolutionary aspects of using whole genome sequencing in the practice of medicine, said Dr. Robert C. Green, a medical geneticist at Brigham and Womens Hospital and Harvard Medical School. He co-led the group that winnowed the list from 90 genetic risk factors to a minimum of 24 that should be searched for in routine testing. You simply cant do business as usual, once this [technology] is scaled up and is affordable, and is part of everyones medical care.

All of the genetic conditions on the list, approved in a vote late Tuesday afternoon by the board of the American College of Medical Genetics and Genomics, are rare. They are a diverse set of conditions, causing predisposition to heart conditions or cancer, and the group focused only on conditions where the knowledge of having a particular gene could be used to prevent or treat a condition.

Physicians and bioethicists had mixed reactions to the recommendations, which were hammered out over weekly 90-minute conference calls over the course of a year and reviewed by 15 outside experts. Most commended the bold effort to establish some ground rules and principles for how to deal with the vast amount of information in the genome, even as they raised concernsespecially about whether patients should have a choice in what they want to be told about their genes.

Were in a transitional time, where a lot of the knowledge of the genome is not yet available, in the sense we have the sequence, but we dont know what its meaning is for large swaths of the genome, said Dr. Isaac Kohane, chair of the informatics program at Boston Childrens Hospital. He anticipated the problem of sequencing turning up unexpected findings in the genome, and in 2006 coined the term Incidentalome to describe the problem.

For example, he said, the list includes mutations in two genesBRCA1 and BRCA2that dramatically increase risk of breast and ovarian cancer in women with a family history of the disease. The problem, he said, is that the risks such mutations confer are far less well understood in the general population. Since the preventive action women could choose to take is extremesurgery to remove their breasts or ovariesproviding the information could be fraught, especially because many physicians do not have enough grounding in genetics and there will not be enough genetic counselors.

Read more here:
Controversial guidelines suggest patients should be informed what risks lurk in their DNA

Related Posts

Comments are closed.

Archives