Expanding Eligibility for Genetic Testing Reveals Clinically Actionable Variants

The following article features coverage from the NCCN 2022 Annual Conference. Click here to read more of Cancer Therapy Advisor’s conference coverage.

Expanding eligibility criteria for genetic testing among patients with a personal or family history of cancer reveals clinically actionable genetic variants, according to research presented in a poster at the NCCN 2022 Annual Conference.¹

Researchers discovered actionable germline genetic variants in 20% of patients who did not meet genetic testing criteria according to prior versions of NCCN’s Genetic/Familial High-Risk Assessment guidelines for breast, ovarian, and pancreatic cancer.²

These guidelines were developed to help identify patients with a higher risk of harboring pathogenic germline variants who would therefore be eligible for genetic testing.

To evaluate whether expanded eligibility criteria would increase the detection of actionable variants, researchers sourced data for this study from the iGAP Registry. Enrolled patients (n=1439) had been evaluated using prior versions of the guidelines (2.2019, 2.2020, and 2.2021) and were reevaluated using version 1.2022.

There were 704 patients who met the 2019-2021 criteria for genetic testing and 735 who did not. Most patients had a personal diagnosis of cancer (81.53% of those who met criteria and 84.90% who did not) and a family history of cancer (85.94% and 58.78%, respectively).

Using the 1.2022 guideline update, an additional 71 patients met the inclusion criteria for genetic testing. In this group, 19.71% of patients had at least 1 pathogenic or likely pathogenic germline variant. Variants were observed in ATM, BAP1, BRCA2, CHEK2, MSH3, MUTYH, NBN, PALB2, and 2 other genes.

“Expanding NCCN qualifying criteria allows for the identification of patients with clinically actionable genetic variants,” the researchers concluded.

Disclosures: This research was supported by Invitae. Some study authors declared affiliations with Medneon.

Read more of Cancer Therapy Advisor’s coverage of NCCN 2022 by visiting the conference page.

Reference

1. Bontempo K, Wernecke C, Bentley B, et al. How long will they wait? Applying updated NCCN criteria to previously unqualified patients reveals missed opportunities for personalized cancer risk management. Presented at NCCN 2022 Annual Conference; March 31 – April 2, 2022. Abstract BPI22-012.
2. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2022. Updated March 9, 2022. Accessed March 31, 2022.