Guidelines for genetic testing of healthy children – addendum

311 RESEARCH TESTING The understanding of the complex role that gene abnormalities play in individual disorders is quickly evolving and is frequently undefined. The parent or the child, when there is adequate capacity, should be informed of the potential difficulties in interpreting the results of gene testing within research protocols. It should be recognized that some laboratories that provide results have a primary research focus and thus, may not have the same standards of quality assessment and controls expected in clinical laboratories. In addition, the reliability and validity of the interpretation of the consequences of documented gene abnormalities should be discussed with recipients of this information, underscoring the importance of involvement of a qualified geneticist or genetic counsellor who can help differentiate between the uncertainty of research results and accepted clinical practice testing (1). Parents, and children who are capable of making decisions, should be cautioned about acting on results that may have inadequate clinical accuracy or confidence (ie, where there may be an inability to interpret data with respect to established norms). Finally, it should be clear before testing, how research results may be distributed and to whom. RECOMMENDATION