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Struewing Article on BRCA1 in Nature Geneticssc

Michael R. Knapp pp002271 at interramp.com
Sat Oct 14 18:56:19 EST 1995

In article <45aa2c$lf2 at cronkite.ocis.temple.edu>,
gold at astro.ocis.temple.edu (Bert Gold) wrote:

> Having just finished reading the new Nature Genetics paper by
> Struewing et al. on the high (1%) frequency of the BRCA1 mutation
> among Ashkenazi Jews, I would be interested in hearing opinions
> about the perceived necessity for population screening at this
> threshold.

There would surely be a cost-benefit analysis that could, at a given point
in technology time, come up with an answer that takes into account
diagnostic testing costs, therapeutic alternatives, life-style adaptation,
etc.  However, for a while, testing decisions should probably remain
personal ones given the emotional implications, inadequate prognostic
data, and lack of a broad therapeutic arsenal for most genetic variants
that cause disease.  If I was at risk for a particular mutation, I would
want to know and would inform myself systematically of research progress. 
However, for most people, having access to an informed health care
community that can intelligently present options to patients in a rapidly
changing knowledge environment will be the only way to ensure a productive
use of genetic data during the historical period where information about
DNA sequence differences is available but efficacious treatments for the
diseases they cause are not.

Mike Knapp

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