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Union of genealogy and genetics saving lives
Mar 28, 2009 (The Salt Lake Tribune - McClatchy-Tribune Information Services via COMTEX) --
The marriage of genealogy and genetics may be saving lives in two families -- one in Utah and the other in New York -- descended from the same colonial ancestor. And future research may help many more.
Last year, scientists at the Huntsman Cancer Institute announced they had discovered that the families carried the same genetic mutation, responsible for a 1,600 percent increased risk of colon cancer. They said they hoped that with education and screening, those with the mutation could stop the cancer before it starts.
On Tuesday, study leader Deborah Neklason said that's just what has happened.
"We can prevent a majority of colon cancers in the family," Neklason said at a meeting of the American Chemical Society in Salt Lake City. "Prevention is the key."
Neklason said many of those in the families -- separated by as many as 14 generations from English colonist George Fry -- had no idea that they were at such a significant increased risk of cancer.
"Some people were clued in and a lot of people were not," she said.
Having been informed, family members were able to undergo screening much earlier than typical -- starting in their late teens or early twenties. When screening shows signs of pre-cancerous polyps -- those with the mutated gene often have hundreds -- the growths can be removed "before they can become cancer," Neklason said.
That's good news for the two families, who researchers are ethically barred from
publicly naming. But the study's results may pay dividends for those who are at increased genetic risk of other diseases, too.
Neklason said the data -- gleaned from the Utah Population Database, a research cache of more than 6.5 million individual health records -- would not have been so valuable if researchers hadn't been able to tie it to family history records at www.familysearch.org. The genealogical Web site run by the Church of Jesus Christ of Latter-day Saints, which encourages its members to explore their family trees, helped Neklason locate specific at-risk individuals.
"That's why I love doing genetics here in Utah," she said.
mlaplante@sltrib.com
Watch Deborah Neklason describe her research at ustream.tv/channel/acslive.
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