Background Based on guidelines and international documents, predictive tests of unpreventable and untreatable late onset disorders, such as Huntington Disease (HD) on minors are highly discouraged. Although very few mature adolescent cases can access a predictive test, institutional genetic service organisations usually abide by the “non-testing” of minors recommendation.
Aims On behalf of AICH Rome (Associazione Italiana della Corea di Hungtinton), we conducted a study with commercial laboratories in Rome, Italy, to assess their compliance with the above recommendation on predictive test for HD in minors.
Methods The study entailed contacting two hundred and fifty commercial laboratories in Rome via phone. We asked to conduct an HD predictive test on a minor. cost of the test, time frames, and modalities for sharing the results. Answers were gathered from receptionists, medical doctors, and lab technicians.
Results From two hundred fifty sample set, only fifteen performed predictive HD tests. All fifteen laboratories perform HD predictive tests on minors by simply securing a signed parental consent form. The only concern expressed by few of the fifteen was the difficulty of collecting blood samples from children younger than five years old because of their small veins. None of the laboratories offered genetic counselling.
Conclusions Based on the sample group, we concluded that in the city of Rome, Italy, best practice protocols for HD predictive testing of either adults or minors are not followed. Efforts to initiate a dialogue at the institutional and local level that can bring about awareness and compliance of commercial laboratories with international HD predictive test guidelines have started.
- Predictive test