Praesymptomatisk genetisk testning af börn bör kun foretages ved mulighed for intervention
Sammanfattning
Presymptomatic genetic testing in minors is subject to debate. We reviewed guidelines on the subject from four large medical genetics
societies. A general consensus exists regarding presymptomatic testing with the main justification for such testing being the direct benefit to
the child through medical intervention or preventive measures. The child’s best interest is central, but there is disagreement as to whether
psychosocial and familial aspects should be included in this concept. Empirical evidence is lacking. We recommend increased awareness
regarding the complexity of this issue.