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Advice on who should consider genetic testing

Wed Feb 17, 2010 12:00 AM EST
health, us, glance, med, testing, gene
The Associated Press, HOPD
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— Inherited diseases such as cystic fibrosis often occur in families with no known risk for them. Gene mutations can pass silently for generations until two carriers mate; then children have a one-in-four chance of getting the disease.

Some insurers cover genetic testing to see if parents carry a gene, and prenatal testing to see if a baby has a disease or a condition like Down syndrome. The risk of certain genes varies by racial and ethnic groups.

The American College of Medical Genetics says that women who are pregnant or considering pregnancy should be offered testing for cystic fibrosis, a lung disease, and spinal muscular atrophy, a relatively common and devastating neurological disorder.

If you're an Ashkenazi, or Eastern European Jew, testing for nine diseases is recommended, including the neurological disorders Tay-Sachs, familial dysautonomia and Gaucher disease.

Blacks should consider testing for sickle cell disease. Blacks, Hispanics, Asians and Mediterranean people are more likely than other groups to carry genes that cause thalassemia, a serious blood disorder.

All pregnant women should be offered testing for Down syndrome, which is caused by an extra chromosome, not hereditary genes.

___

On the Net:

March of Dimes: http://www.marchofdimes.com/pnhec/4439.asp

National Human Genome Research Institute: http://www.genome.gov/19516567

American College of Medical Genetics: http://www.acmg.net

© 2010 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.
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