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Tuesday, May 21, 2013

A lot of us (not just people with cancer genes) are going to be facing hard decisions about medical prevention

I had a story in The Sunday Telegraph about breast cancer, talking to local women who have the BRCA gene. (I'm a pretty experienced reporter, but I admit I fumbled a bit when asking them about their breasts.) This is the sidebar, which I thought would be of interest to GG readers:

  • A website established by the federal government helps people create a family health history and keep it updated as a way to help focus knowledge of their genetics. The free system can be seen at familyhistory.hhs.gov/ fhh-web/home.action.


The decision made by Angelina Jolie to have a double mastectomy before to help prevent contracting breast cancer drew attention for its novelty, but it’s the sort of choice that’s going to get a lot less novel down the road.

“This is the human genome project. It has taken awhile for us to use it, but now it is here,” said Mary Schmitt, APRN, who counsels patients regarding genetic testing at St. Joseph Hospital in Nashua.

The global genome project is “mapping” the roughly 25,000 genes found inside all human cells, partly so we can tackle disease better by connecting molecular patterns in our genome with ailments and syndromes.

It was launched a quarter century ago, and the initial sequencing was finished in 2003. Work has continued on understanding the molecular double helix and how, with changes that occur during our lifetimes because of environmental and other factors, it creates the proteins and other chemicals that control much of our makeup, including our medical past and future.

The connection between breast cancer and the genes called BRCA-1 and BRCA-2 was one of the early discoveries made via the project, reshaping the approach of many women to cancer by allowing informed decisions before the disease arrives.

A similar reshaping is coming for a lot more diseases as more connections are found between genes and the likelihood of disease. Notably, the Cancer Genome Atlas is seeking to identify all genetic abnormalities that can be found in 50 cancer types.

Combined with the falling cost of gene sequencing, this means many more people are going to be faced with choices like those that faced Jolie.

If your genetic blueprint says you have a higher risk of some disease, do you want to start treatment before it arrives even if that treatment carries its own drawbacks? What if there’s no effective treatment – do you still want to know you have a genetic time bomb?

A less complicated advance, Schmitt said, involves the use of treatment. Genetic profiles of individuals can indicate which of various medicines will work best on a given disease, allowing a targeted approach that can be more effective and have fewer side effects.

“This is just the beginning,” Schmitt said. “It’s very exciting.”