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
Research testing: Paediatricians should inform parents, and children with adequate capacity to understand the information, that the reliability and validity of individual research results may vary with the understanding of the gene disorder and its testing. Recipients of this genetic information should be cautioned about acting on research results that may have inadequate clinical accuracy or confidence.
Acknowledgements
The committee wishes to thank Tim Caufield of the University of Alberta (Edmonton, Alberta) who provided helpful comments during the development of the full statement published in 2003. The Board of Directors of the Canadian College of Medical Geneticists reviewed and approved the original position statement, including the present addendum.
Footnotes
For more information, please refer to the full text position statement available on-line at <www.cps.ca/english/statements/B/b03-01.htm>
CANADIAN PAEDIATRIC SOCIETY, BIOETHICS COMMITTEE
Members: Drs Susan Albersheim, BC Children’s Hospital, Vancouver, British Columbia; Conrad Fernandez, IWK Health Centre, Halifax, Nova Scotia; Robert Hilliard, The Hospital for Sick Children, Toronto, Ontario; Saleem Razack, The Montreal Children’s Hospital, Montreal, Quebec (2004–2007); Christina Templeton, Janeway Children’s Health & Rehabilitation Centre, St John’s, Newfoundland (board representative); Ellen Tsai, Kingston General Hospital, Kingston, Ontario (chair)
CANADIAN COLLEGE OF MEDICAL GENETICISTS, ETHICS AND PUBLIC POLICY COMMITTEE
Approved by the Ethics and Public Policy Committee Chair, Dr Linlea Armstrong, and the Board of Directors
Principal authors: Drs Laura Arbour, Victoria General Hospital, Victoria, British Columbia; Conrad Fernandez, IWK Health Centre, Halifax, Nova Scotia
The recommendations in this statement do not indicate an exclusive course of treatment or procedure to be followed. Variations, taking into account individual circumstances, may be appropriate. Internet addresses are current at time of publication
REFERENCE
- 1.Shalowitz DI, Miller FG. Disclosing individual results of clinical research: Implications of respect for participants. JAMA. 2005;294:737–40. doi: 10.1001/jama.294.6.737. [DOI] [PubMed] [Google Scholar]