Acta Paediatr. 2014 Feb 17. doi: 10.1111/apa.12601. [Epub ahead of print]

Developing standards for chromosomal microarray testing counselling in paediatrics.

Godfrey E, Clark P.

Author information

• School of Medicine and Surgery, University of Birmingham, UK.

Abstract

AIM:

Chromosomal microarray testing (CMA) generally aids paediatric genetic diagnosis. However, pre-CMA counselling is important as results can be ambiguous, generate uncertainty and raise ethical issues. We developed standards for counselling and giving families results; using these we evaluated practice for children seen by the Auckland Developmental Paediatric team in 2011. Pre-test discussion was documented in 14/28 subjects and potential outcomes in 4/28. 8/28 received information leaflets, 1/28 gave signed consent. 3/3 with abnormal results and 4/5 with variants of unknown significance (VOUS) were offered clinical genetics referral. 8/20 families with normal results were written to; two with abnormal results were informed face-to-face and one in writing; most VOUS were communicated by phone, voicemail or letter.

CONCLUSION:

CMA testing requires clear patient information sheets and in-depth pre-test discussion for informed consent, timely feedback of results, and genetics referral as appropriate. Authoritative guidelines and training are needed to strengthen CMA counselling.