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Pan-Ethnic Carrier Screening:

Information for Health Professionals

Carrier screening for recessive disorders has typically targeted disorders prevalent in specific ethnic groups:  for example, Tay-Sachs disease in Ashkenazi Jews, cystic fibrosis in Caucasians, sickle cell anemia in African-Americans, and beta-thalassemia in persons of Mediterranean ancestry.  New techniques make it feasible to offer carrier screening for a large number of recessive conditions that affect persons of many different ethnicities .
How does enhanced carrier screening work?

DNA from a blood or saliva sample is analyzed for hundreds of different mutations, each of which is associated with a particular disease.  For some conditions, a single mutation is assessed, whereas for others, more than a dozen mutations are analyzed.  Carriers of a particular disorder are identified when one copy of a mutation for that disease is detected.

What are the benefits of enhanced carrier screening?

But, isn't there a downside to expanded screening?

Quite frankly, there is.  When screening for such a large number of rare diseases, many people will be identified as carriers for one, and sometimes two or three diseases.  Usually, their reproductive partner will screen negative for the same disease(s).  However, in some cases, there will still be a significant "residual risk" for having an affected child, because carrier screening may be considerably less than 100% sensitive.  More sensitive methods of carrier screening for individual diseases are available, but they are often quite expensive.

Important points to keep in mind:

Recommendations for pan-ethnic carrier screening?
Enhanced screening is a convenient and economical option, particularly for patients who have not had prior carrier screening, since it includes screening recommended for Caucasian couples (cystic fibrosis) and carrier screening that some professional societies have recommended (fragile X and spinal muscular atrophy), as well as the extended disease panel.  Each laboratory performing pan-ethnic screening has slightly different disease and mutation panels.  Genetic consultation is helpful when one or both members of a couple have abnormal screening results.

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