Developing standards for chromosomal microarray testing counselling in paediatrics

Area of Science:

• Medical Genetics
• Pediatric Diagnostics

Background:

• Chromosomal microarray testing (CMA) is a key tool in pediatric genetic diagnosis.
• Effective pre-CMA counseling is crucial due to potential result ambiguity, uncertainty, and ethical considerations.

Purpose of the Study:

• To establish standards for pre-CMA counseling and result delivery.
• To evaluate current counseling practices within a pediatric developmental team.

Main Methods:

• Development of counseling and result-giving standards.
• Retrospective audit of 28 pediatric cases seen by the Auckland Developmental Paediatric team in 2011.
• Analysis of documentation for pretest discussions, information provision, consent, and result communication.

Main Results:

• Pretest discussion documented in 50% of cases; potential outcomes discussed in only 14%.
• Information leaflets provided to 29% of families; signed consent obtained from only one.
• Referrals to clinical genetics offered for all abnormal results and 80% of variants of unknown significance (VOUS).
• Result communication varied, with most VOUS communicated informally (phone, letter).

Conclusions:

• Clear patient information and thorough pretest discussions are essential for informed consent in CMA.
• Timely feedback and appropriate genetics referral are critical components of CMA services.
• Authoritative guidelines and training are necessary to improve CMA counseling standards.