26 April 2011

NGS in the clinic

Not quite there yet, but it's a step in the right direction: Whole-Genome Sequencing Reaches Clinic. With a flurry of recent papers on tumor sequencing, it's not surprising that the clinicians predict cancer to be the first major application for NGS in a clinical setting.

As we move forward with the technology, I find it interesting to see how people handle the information that is generated. In the case reported here, researchers did not seem prepared to follow up on this issue:
"Genotyping of the patient's mother and absence of a cancer history in the father suggested that the TP53 mutation had arisen spontaneously rather than being inherited. However, the patient could have passed it on to her children. Studies by Wilson and colleagues along with previous research indicated that defects in TP53can cause or promote cancer.
The researchers reported that they communicated the potential risk to next of kin, encouraging them to seek genetic testing and counseling. However, a confidentiality "firewall" included in the research protocol prevented the research team from learning whether the children acted on the recommendations."

As was seen with direct-to-consumer genomics, it's not always clear how patients, physicians, and family members will use the data, and it is important for researchers to consider the implications of releasing such information prior to actually doing so.

No comments:

Post a Comment