2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Initial Experience from a Single Laboratory on Custom Hereditary Cancer Panel Orders

Pdf Summary

Multi-gene panel testing (MGPT) for hereditary cancer predisposition is becoming more common among healthcare providers. This study evaluated the outcomes of a customizable hereditary cancer test offered by a commercial laboratory. The study included 192 cases with custom panel orders from different healthcare providers. The results showed that adding genes to a base panel was more common than removing genes. Only 17.2% of custom orders consisted of gene sets smaller than the 19-gene panel, and a pathogenic or likely pathogenic variant was reported in 54.5% of these orders. The custom panel orders had a higher rate of variants of uncertain significance compared to non-custom orders. Additionally, almost 24% of the custom panel orders had pathogenic or likely pathogenic variants. The inclusion of additional genes outside of the base panels enabled the detection of 30.4% of these variants. However, many of these variants were associated with autosomal recessive conditions or had limited actionability. Approximately 14.6% of custom orders resulted in pathogenic or likely pathogenic variants that conferred an increased cancer risk to the patient. The majority of these actionable variants were in genes outside of the 81-gene panel. Custom panel ordering resulted in a higher rate of pathogenic or likely pathogenic variant detection and variant of uncertain significance detection. It is important to note that customization may be complex and should be managed by healthcare providers with adequate resources. Further exploration of personalized panels based on patient history may enhance decision-making and yield more actionable information.

Asset Subtitle

Submitter Only - Urmi Sengupta, PhD; Presenting Author - Kate Loranger, MS, CGC; Co-Author - Katherine L. Howard, LGC, CGC, MSGC; Co-Author - Madison LaFleur, MS, CGC; Co-Author - Youbao Sha, PhD, FACMG; Co-Author - Jeffrey N. Weitzel, MD;

Meta Tag

Cancer Syndromes

Counseling

Genetic Testing

Genome sequencing

Identification of Disease Genes

Variant Detection

Co-Author Katherine L. Howard, LGC, CGC, MSGC

Co-Author Madison LaFleur, MS, CGC

Co-Author Youbao Sha, PhD, FACMG

Co-Author Jeffrey N. Weitzel, MD

Presenting Author Kate Loranger, MS, CGC

Submitter Only Urmi Sengupta, PhD

Keywords

Multi-gene panel testing

hereditary cancer predisposition

healthcare providers

customizable hereditary cancer test

commercial laboratory

gene panel

variants of uncertain significance

pathogenic or likely pathogenic variants

custom panel orders

actionable information