Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer.

摘要: While debate has focused on whether testing of minors for late onset genetic disorders should be carried out if there is no medical benefit, less known about the impact young people (<25 years) who have had predictive often many years before likely symptoms. We looked at experiences a range conditions with variable ages and options screening treatment. A consecutive series 61 test aged 15–25 Clinical Genetic Service, Manchester, HD, HBOC (BrCa 1 or 2) FCM (Hypertrophic Cardiomyopathy Dilated Cardiomyopathy), were invited to participate. Thirty-six (36/61; 59%) agreed participate (10 16 10 FCM) telephone interviews audiotaped, transcribed analysed using Interpretative Phenomenological Analysis. None participants expressed regret having age. Participants saw value pretest counselling not in facilitating decision, but rather as source information support. Differences emerged among three groups parent/family involvement decision tested. Parents families strong influence favour testing, was autonomous usually congruent views parents, whereas HD sometimes went against opinions parents/grandparents. from all proposed more tailoring needs people.