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Laboratory Stewardship Rescues Misordered Familial Targeted Cytogenetic Testing Following Proband Genomic Testing:

Amanda S Openshaw1, Rachel M Lasher1, Michelle Q Bosworth2

  • 1Cytogenetics Department, ARUP Laboratories, Salt Lake City, UT.

Journal of the Association of Genetic Technologists
|June 6, 2026
PubMed
Summary

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This summary is machine-generated.

Laboratory genetic counselors (GCs) use stewardship programs to ensure appropriate familial cytogenetic testing after proband genomic testing. This process prevents errors and speeds up accurate results for at-risk relatives.

Area of Science:

  • Medical Genetics
  • Clinical Laboratory Science
  • Genomic Medicine

Background:

  • Familial cytogenetic testing requires careful consideration of prior proband genomic testing results.
  • Inappropriate test orders can lead to delays, resource waste, and potentially inaccurate diagnoses for relatives.
  • Structural variants (SVs) can be challenging to detect using standard cytogenetic methods.

Purpose of the Study:

  • To describe the role of laboratory stewardship programs in optimizing familial cytogenetic testing.
  • To highlight instances of inappropriate familial testing orders identified and corrected through laboratory stewardship.
  • To emphasize the importance of genetic counseling and proband test results for appropriate familial testing.

Main Methods:

  • Review of incoming familial cytogenetic testing orders by laboratory genetic counselors.

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  • Implementation of a laboratory stewardship (LS) program to assess test appropriateness.
  • Analysis of cases where LS identified and corrected inappropriate familial testing orders.

    • Main Results:

    • Three cases of inappropriate familial cytogenetic testing orders were identified and corrected by the LS program.
    • The LS process prevented potential false-negative results in at-risk relatives.
    • Correction of orders expedited accurate results, facilitating informed clinical decisions.

    Conclusions:

    • Laboratory stewardship programs are crucial for ensuring the appropriateness of familial cytogenetic testing.
    • Proper utilization of proband genomic testing information and genetic counseling is vital for accurate familial testing.
    • LS programs improve diagnostic yield and resource utilization in cytogenetics, especially for complex structural variants.