Leib Jennifer R, Gollust Sarah E, Hull Sara Chandros, Wilfond Benjamin S
Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1156, USA.
Genet Med. 2005 Mar;7(3):185-90. doi: 10.1097/01.gim.0000156527.87525.8f.
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.
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.
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.
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.
描述美国实验室提供的阿什肯纳兹犹太人群携带者检测套餐的特点，包括所涵盖的疾病、用于描述套餐的标签，以及各实验室单项检测价格与套餐价格的比较。
在基因检测网站（http://www.genetests.org）搜索提供泰-萨克斯病检测的实验室。通过实验室网站、印刷手册及电话获取有关检测/套餐的信息。
27家实验室提供多达10项检测。这些检测包括两种与儿童期死亡相关的疾病（A型尼曼-匹克病和泰-萨克斯病）、五种导致中度残疾且寿命不同程度缩短的疾病（布卢姆综合征、卡纳万病、囊性纤维化、家族性自主神经功能障碍、范可尼贫血和IV型黏脂贮积症），以及两种不一定导致残疾或常规缩短寿命的疾病（I型戈谢病和DFNB1感音神经性听力损失）。20家实验室提供了总共27种针对三至九种疾病的检测套餐，价格从200美元到2082美元不等。其中，15种套餐的费用低于单独订购检测项目的费用。这些套餐有24种不同的标签描述；其中8种包含“阿什肯纳兹犹太疾病或病症”短语，6种包含“阿什肯纳兹犹太携带者”短语。
套餐在疾病、价格和标签方面存在很大差异。为阿什肯纳兹犹太人群体、临床医生和付款方制定纳入套餐的适当标准的政策指导可能会有所帮助。应重新审视为使用“更多检测项目”提供经济激励的定价策略。
