2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Improving identification of patients at an increased risk of cancer within a large healthcare system

Pdf Summary

The document discusses the need to integrate genetic information into electronic health records (EHR) in order to identify patients at risk for hereditary cancer syndromes (HCS). Implementing solutions to identify these patients and track those with known HCS would enable the delivery of precision medicine and guide cancer screening and risk reduction. The Fred Hutchinson Cancer Center received a subaward from the Centers for Disease Control and Prevention (CDC) to develop a best practice guideline for the systematic identification of patients meeting National Comprehensive Cancer Network (NCCN) guidelines for genetic testing. A Hereditary Cancer Working Group (HCWG) was established, consisting of various stakeholders, to identify gaps and barriers in the EHR system. A pilot study was conducted to review medical records of breast and colorectal cancer patients who met NCCN criteria for a genetics referral. The study found that a significant portion of patients already underwent genetic testing without a referral to genetics in the EHR. The document concludes that improving the identification of patients at increased risk of cancer requires multiple approaches, including establishing a governance group, integrating genetic ordering and reporting in the EHR, implementing alerts or decision support tools, and providing training to healthcare providers. The document also provides data on the referral rates for genetic counseling and possible reasons for the lack of referrals in breast and colorectal cancer patients. It concludes by mentioning the merger between the Seattle Cancer Care Alliance and the Fred Hutchinson Cancer Research Center, which is now known as the Fred Hutchinson Cancer Center, and invites contact with Dr. Dubard regarding the best practice guideline.

Asset Subtitle

Submitter Only - Marianne E. Dubard-Gault, MD, MS; Presenting Author - Marianne E. Dubard-Gault, MD, MS; Co-Author - Mercy Laurino, MS CGC, PhD; Co-Author - Nicole-Ann Rodis, Lead PDC; Co-Author - Hannah Hill, MD;

Meta Tag

Bioinformatics

Cancer Syndromes

Genetic Testing

Methodology

Risk Assessment

Co-Author Mercy Laurino, MS CGC, PhD

Co-Author Nicole-Ann Rodis, Lead PDC

Co-Author Hannah Hill, MD

Presenting Author Marianne E. Dubard-Gault, MD, MS

Submitter Only Marianne E. Dubard-Gault, MD, MS

Keywords

genetic information

electronic health records

hereditary cancer syndromes

precision medicine

cancer screening

National Comprehensive Cancer Network

genetic testing

EHR system

breast cancer

colorectal cancer