2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Laboratory Utilization Management System Assists with Familial Cytogenetic Testing: 3 Case Examples

Pdf Summary

The article discusses the benefits of a laboratory utilization management (UM) system for familial cytogenetic testing. The UM system is overseen by genetic counselors and helps ensure that test orders are appropriate for each individual case. The article presents three case examples where inappropriate test orders were identified and corrected through the UM process.<br /><br />In Case 1, a blood chromosome analysis was initially ordered for an adult female with an exceptionally large newborn baby. However, after review by the UM team, it was determined that the appropriate test should be a family history of a balanced translocation. This correction was made to provide accurate recurrence risk counseling.<br /><br />In Case 2, a blood chromosome analysis was ordered for reproductive partners to rule out a balanced rearrangement in parents of a child with 1p36 deletion. The UM team flagged this order due to family history, and genetic counselors requested the proband report. It was discovered that neither the karyotype nor the standard 1p36 FISH probe could detect the 1.4 Mb deletion. The testing was changed to custom FISH, which confirmed the de novo deletion in the proband.<br /><br />In Case 3, a blood chromosome analysis was initially ordered for an adult male with fatigue. However, the UM team flagged this as an inappropriate indication and requested the proband report. The corrected indication was a child with Cri-du-Chat syndrome, and it was determined that a familial translocation was present. Both the karyotype and the standard Cri-du-Chat FISH probe were not appropriate for identifying the translocation. The final recommendation was for subtelomere FISH for 5p and 12p for the patient and family members.<br /><br />Overall, the article emphasizes the importance of having a UM system in place for familial cytogenetic testing to ensure appropriate testing and accurate recurrence risk counseling. Healthcare providers without genetics expertise are encouraged to seek advice prior to submitting samples for testing, and it is crucial to include a copy of the proband test result(s) with the family member's test order.

Asset Subtitle

Presenting Author - Amanda S. Openshaw, MS, CGC; Co-Author - Rachel M. Lasher, MS, CGC; Co-Author - Michelle Q. Bosworth, MS; Co-Author - Danielle LaGrave, MS; Co-Author - Hiba Risheg; Co-Author - Bo Hong, MD, FACMG;

Meta Tag

Chromosomal Abnormalities

Clinical Cytogenetics

Counseling

Cytogenetics

FISH

Genetic Testing

Co-Author Rachel M. Lasher, MS, CGC

Co-Author Michelle Q. Bosworth, MS

Co-Author Danielle LaGrave, MS

Co-Author Hiba Risheg

Co-Author Bo Hong, MD, FACMG

Presenting Author Amanda S. Openshaw, MS, CGC

Keywords

laboratory utilization management system

familial cytogenetic testing

genetic counselors

test orders

balanced translocation

recurrence risk counseling

1p36 deletion

custom FISH

Cri-du-Chat syndrome

subtelomere FISH