Carrier screening panels for Ashkenazi Jews: is more better?
OBJECTIVE
To describe the characteristics of Ashkenazi Jewish carrier testing panels offered by US Laboratories, including what diseases are included, the labels used to describe the panels, and the prices of individual tests compared to the prices of panels for each laboratory.


METHODS
GeneTests (http://www.genetests.org) was searched for laboratories that offered Tay-Sachs disease testing. Information was obtained from laboratory web sites, printed brochures, and telephone calls about tests/panels.


RESULTS
Twenty-seven laboratories offered up to 10 tests. The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 sensorineural hearing loss). Twenty laboratories offered a total of 27 panels of tests for three to nine diseases, ranging in price from $200 to $2082. Of these, 15 panels cost less than tests ordered individually. The panels were described by 24 different labels; eight included the phrase Ashkenazi Jewish Disease or disorder and six included the phrase Ashkenazi Jewish Carrier.


CONCLUSIONS
There is considerable variability in the diseases, prices, and labels of panels. Policy guidance for establishing appropriate criteria for inclusion in panels may be useful to the Ashkenazi Jewish community, clinicians, and payers. Pricing strategies that offer financial incentives for the use of "more tests" should be reexamined.
Leib
Jennifer R
JR
Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1156, USA.
Gollust
Sarah E
SE
Hull
Sara Chandros
SC
Wilfond
Benjamin S
BS
D000072259:Connexin 26; D017630:Connexins; D006580:Genetic Carrier Screening / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000208:ethnology* / Q000235:genetics*; D005820:Genetic Testing; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000208:ethnology* / Q000235:genetics*
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26