2012 ends with a new paper illustrating the power of genomics to find a likely cause of diseases such as cancer. In short, researchers were able to find and focus on a small number of families with strong histories of bowel cancer. The researchers then collected DNA and sequenced genes from the family members (the same process that helped researchers find BRACA 1 and 2).
Outcome? The researchers found two mutations strongly associated with developing malignant or non-malignant bowel tumors in the highly-effected families, and a few members of another cohort of persons with bowel cancer. They also found precancerous growths in the bowels of persons in the families with predominance of the mututations. On the other hand, the two mutations were not found in thousands of persons in the cohort of persons with bowel cancer.
Conclusion? Gene sequencing can work well when researchers obtain access to cohorts of persons with similar diseases. Sequencing also can work for screening and finding growths before they become malignant. Cohort testing also may tend to suggest that some tumors are not caused by genetic variations, and instead arise from other causes. Mass tort defendants and insurers should be thinking about the consequences of gene sequencing of cohorts of persons with similar diseases.
The press release from Oxford is set out below in full:
"Rare DNA faults in two genes have been strongly linked to bowel cancer by Oxford University researchers, who sequenced the genomes of people from families with a strong history of developing the disease.
The researchers sequenced the entire DNA genomes of 20 people from families with a strong history of bowel cancer. Eight of the 20 people had developed bowel cancer, while the rest had a first-degree relative who had developed the disease. The findings are published in the journal Nature Genetics.
They found that everyone who had a faulty POLE or POLD1 gene developed bowel cancer or had a precancerous growth in the bowel.
To confirm their findings they then looked for faults in these two genes in almost 4,000 people with bowel cancer, and 6,700 people without the disease.