Wednesday, June 20, 2007

Extra! Extra! Mendel was Right!

I couldn't help but be amused by the headline in today's Boston Glob: "Breast cancer genes can come from father". Wow! That pesky Austrian monk was on to something with his crazy ideas! The paper upgraded itself back to the Globe with a decently written story describing a new JAMA article which looked for BRCA mutations in patients with very few female relatives. In a nutshell, the BRCA- phenotype (early predisposition to breast cancer) was hidden in these families due to family structure.

The consequences of this are certainly something to take very seriously: some doctors are not thinking carefully about the paternal side of a woman's family tree when scoping out a rationale for BRCA testing, and insurance companies apparently have been over-emphasizing the maternal side of the tree as well, and in some cases a woman may simply have no (or no known) close female relatives. Clearly the medical world has a Sherpa shortage.

Within a decade or so complete genome sequencing or comprehensive mutational scans will be pretty routine. That won't discount the need for taking a good family history, especially since our ability to interpret those scans may lag the technology for obtaining them

1 comment:

Steve Murphy MD said...

Thanks for the props :)
I am saddened that fathers passing BRCA genes has made news. It just lets me know once again how silly misconceptions of "genetics" has led to poor insurance decisions and even poorer medical outcomes.