2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Uptake of Cascade Testing in Families With Ovarian Cancer: Genetic Risk Analysis in Ovarian Cancer (GRACE) Study

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The Genetic Risk Analysis in Ovarian Cancer (GRACE) study aimed to identify families with a genetic risk for ovarian cancer using a traceback testing approach. Cascade testing was offered to 72 family members from 15 probands, with a 32% uptake rate. It was found that there was no difference in uptake based on sex assigned at birth, despite most genes being linked to ovarian and breast cancers. Interestingly, no probands wanted the study to contact their relatives directly at the time of the results disclosure visit.<br /><br />The overall acceptance rate for cascade testing was 32%. First-degree relatives were more likely to accept testing (39%) compared to second-degree relatives (21%). However, probands had low uptake of having the study genetic counselor reach out directly to at-risk relatives to encourage cascade testing. Additionally, the cascade testing uptake rate did not differ based on the sex assigned at birth of the relative.<br /><br />Specifically looking at genes related to ovarian cancer, 63% of families with genes associated with ovarian cancer accepted testing. In contrast, only 29% of families with genes not related to ovarian cancer accepted testing.<br /><br />The study tested probands diagnosed with ovarian cancer between 1998 and 2020 using a 60 gene panel. Only pathogenic and likely pathogenic variants were reported. Negative results were communicated through a letter, while positive results were given through a telephone call with the study genetic counselor. Cascade testing was offered to first and second-degree relatives, and probands were given the option of having the study genetic counselor contact their relatives directly.<br /><br />In terms of specific genes, males accepted testing for BRCA2, PMS2, BARD1, DICER1, and HOXB13, while females accepted testing for BRCA2, PMS2, DICER1, RAD51D, HOXB13, and CHEK2.

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Presenting Author - Jamilyn M. Zepp, MS, CGC; Co-Author - Alan F. Rope, MD; Co-Author - Yolanda K. Prado, BS, CCRP; Co-Author - Tia L. Kauffman, MPH; Co-Author - Mahesh Maiyani, MBA; Co-Author - Ana A. Reyes, BA; Co-Author - Jennifer Sawyer, BA; Co-Author - Larissa L. White, PhD, MPH; Co-Author - Sarah Vertrees, BS; Co-Author - Sheila Weinmann, PhD, MPH; Co-Author - Sandra S. Lee, PhD; Co-Author - Heather S. Feigelson, PhD, MPH; Co-Author - Jessica E. Hunter, PhD; Co-Author - Nora B. Henrikson, PhD, MPH;

Meta Tag

Counseling

Genetic Testing

Risk Assessment

Co-Author Alan F. Rope, MD

Co-Author Yolanda K. Prado, BS, CCRP

Co-Author Tia L. Kauffman, MPH

Co-Author Mahesh Maiyani, MBA

Co-Author Ana A. Reyes, BA

Co-Author Jennifer Sawyer, BA

Co-Author Larissa L. White, PhD, MPH

Co-Author Sarah Vertrees, BS

Co-Author Sheila Weinmann, PhD, MPH

Co-Author Sandra S. Lee, PhD

Co-Author Heather S. Feigelson, PhD, MPH

Co-Author Jessica E. Hunter, PhD

Co-Author Nora B. Henrikson, PhD, MPH

Presenting Author Jamilyn M. Zepp, MS, CGC

Keywords

GRACE study

Cascade testing

Uptake rate

Sex assigned at birth

Ovarian cancer

Genes related to ovarian cancer

Gene panel

Pathogenic variants

Study genetic counselor

BRCA2