洞見 - Medical Informatics - # Familial Cancer Risk Identification and Genetic Testing Gaps

Electronic Health Records Reveal Significant Familial Cancer Risk, but Genetic Testing Remains Underutilized

Q: What strategies could be implemented to increase the uptake of genetic testing among individuals identified as high-risk through EHR-based family history screening?

To enhance the uptake of genetic testing among individuals identified as high-risk through EHR-based family history screening, several strategies can be employed: Patient Education and Awareness: Develop targeted educational campaigns that inform patients about the importance of genetic testing, particularly for those identified as FHS7-positive. This could include informational brochures, webinars, and one-on-one consultations with genetic counselors to explain the implications of genetic testing for hereditary breast and ovarian cancer. Streamlined Referral Processes: Establish clear and efficient referral pathways from primary care providers to genetic counseling services. This could involve integrating genetic counseling into routine care for patients flagged by EHR-derived family history screening, ensuring that they receive timely access to testing. Incentives for Testing: Consider implementing financial incentives or reduced costs for genetic testing for high-risk individuals. Insurance companies could be encouraged to cover the costs of testing for those identified through EHR screening, thereby reducing financial barriers. Direct Outreach: Utilize direct outreach methods, such as phone calls or personalized letters, to contact patients identified as high-risk. This proactive approach can help engage patients who may not respond to standard communication methods. Follow-Up Mechanisms: Implement follow-up systems to remind patients about the importance of genetic testing and to address any concerns or questions they may have. This could include automated reminders through patient portals or follow-up calls from healthcare providers. Integration of Genetic Testing into Routine Care: Encourage healthcare providers to incorporate discussions about genetic testing into routine health assessments, particularly for patients with a family history of cancer. This normalization of genetic testing can help reduce stigma and increase acceptance.

Q: How can the limitations of EHR-derived family history screening, such as potential self-selection biases and incomplete data, be addressed to improve the accuracy and completeness of risk identification?

To address the limitations of EHR-derived family history screening, including potential self-selection biases and incomplete data, the following approaches can be implemented: Comprehensive Data Collection: Enhance the data collection process within EHR systems to ensure that family history information is as complete and accurate as possible. This could involve standardized questionnaires that prompt healthcare providers to gather detailed family history during patient visits. Direct Patient Engagement: Utilize direct patient questionnaires or surveys to supplement EHR data. Engaging patients in providing their family history can help capture information that may be missing or inaccurately recorded in EHRs. Regular Updates and Maintenance: Establish protocols for regularly updating family history information in EHRs. This could involve periodic reviews of patient records and outreach to patients to confirm or update their family history. Training for Healthcare Providers: Provide training for healthcare providers on the importance of accurately documenting family history and the implications for genetic testing. This can help reduce biases in data entry and ensure that all relevant information is captured. Utilization of Advanced Analytics: Implement advanced analytics and machine learning algorithms to identify patterns and gaps in family history data. These tools can help flag patients who may be at risk but have incomplete records, prompting further investigation. Collaboration with Genetic Counselors: Foster collaboration between primary care providers and genetic counselors to ensure that patients with incomplete family history data are appropriately assessed and referred for genetic testing.

核心概念

Electronic health record (EHR) data can effectively identify patients with familial risk for hereditary breast and ovarian cancer, but a substantial proportion of these high-risk individuals have not undergone genetic testing.

摘要

The study used electronic health record (EHR) data from Renown Health in Northern Nevada to identify patients with familial risk for hereditary breast and ovarian cancer. The researchers employed a seven-question family history screening (FHS7) tool to flag individuals meeting the criteria for genetic testing.

The key findings include:

EHR-derived FHS7 identified 29,913 patients with familial risk, but 82% of them had no evidence of genetic testing.
FHS7-positive status was associated with a 3.34-fold increase in BRCA1/2 positivity among female participants and a 3.35-fold increase among male participants.
Female FHS7-positive participants also showed a 1.62-fold increase in CHEK2 positivity and a 2.84-fold increase in PALB2 positivity.
Age-adjusted cancer incidence rates were higher for FHS7-positive patients, with 367.2 cases per 100,000 per year for women and 309.9 cases per 100,000 per year for men.
The number needed to test to detect one BRCA1/2-positive patient decreased from 128 to 53 for women and from 119 to 42 for men when prescreening with FHS7.

The study highlights the potential of EHR-derived family history screening to identify high-risk individuals, but also reveals a significant gap in the utilization of genetic testing among these patients. Addressing this gap could lead to improved cancer prevention and early detection strategies.

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www.medscape.com

統計資料

EHR-derived FHS7 identified 29,913 patients with familial risk for hereditary breast and ovarian cancer.
82% of the patients identified as having familial risk had no evidence of genetic testing.
FHS7-positive status was associated with a 3.34-fold increase in BRCA1/2 positivity among female participants and a 3.35-fold increase among male participants.
Female FHS7-positive participants had a 1.62-fold increase in CHEK2 positivity and a 2.84-fold increase in PALB2 positivity.
Age-adjusted cancer incidence rates were 367.2 cases per 100,000 per year for women and 309.9 cases per 100,000 per year for FHS7-positive patients.
The number needed to test to detect one BRCA1/2-positive patient decreased from 128 to 53 for women and from 119 to 42 for men when prescreening with FHS7.

引述

"EHR-derived FHS7 identified thousands of patients with familial risk for breast cancer, indicating a substantial gap in genetic testing."
"Survey results suggest that most patients who are FHS7–positive in their EHR truly meet family history criteria, but that EHR-derived FHS7 may miss many patients who would be FHS7–positive if approached with a direct questionnaire."

從以下內容提煉的關鍵洞見

EHR Screening Reveals Familial Cancer Risk

by Edited Katie... 於 www.medscape.com 09-25-2024

https://www.medscape.com/viewarticle/screening-identifies-familial-risk-hereditary-breast-and-2024a1000hex

EHR Screening Reveals Familial Cancer Risk

深入探究

What strategies could be implemented to increase the uptake of genetic testing among individuals identified as high-risk through EHR-based family history screening?

To enhance the uptake of genetic testing among individuals identified as high-risk through EHR-based family history screening, several strategies can be employed:

Patient Education and Awareness: Develop targeted educational campaigns that inform patients about the importance of genetic testing, particularly for those identified as FHS7-positive. This could include informational brochures, webinars, and one-on-one consultations with genetic counselors to explain the implications of genetic testing for hereditary breast and ovarian cancer.

Streamlined Referral Processes: Establish clear and efficient referral pathways from primary care providers to genetic counseling services. This could involve integrating genetic counseling into routine care for patients flagged by EHR-derived family history screening, ensuring that they receive timely access to testing.

Incentives for Testing: Consider implementing financial incentives or reduced costs for genetic testing for high-risk individuals. Insurance companies could be encouraged to cover the costs of testing for those identified through EHR screening, thereby reducing financial barriers.

Direct Outreach: Utilize direct outreach methods, such as phone calls or personalized letters, to contact patients identified as high-risk. This proactive approach can help engage patients who may not respond to standard communication methods.

Follow-Up Mechanisms: Implement follow-up systems to remind patients about the importance of genetic testing and to address any concerns or questions they may have. This could include automated reminders through patient portals or follow-up calls from healthcare providers.

Integration of Genetic Testing into Routine Care: Encourage healthcare providers to incorporate discussions about genetic testing into routine health assessments, particularly for patients with a family history of cancer. This normalization of genetic testing can help reduce stigma and increase acceptance.

How can the limitations of EHR-derived family history screening, such as potential self-selection biases and incomplete data, be addressed to improve the accuracy and completeness of risk identification?

To address the limitations of EHR-derived family history screening, including potential self-selection biases and incomplete data, the following approaches can be implemented:

Comprehensive Data Collection: Enhance the data collection process within EHR systems to ensure that family history information is as complete and accurate as possible. This could involve standardized questionnaires that prompt healthcare providers to gather detailed family history during patient visits.

Direct Patient Engagement: Utilize direct patient questionnaires or surveys to supplement EHR data. Engaging patients in providing their family history can help capture information that may be missing or inaccurately recorded in EHRs.

Regular Updates and Maintenance: Establish protocols for regularly updating family history information in EHRs. This could involve periodic reviews of patient records and outreach to patients to confirm or update their family history.

Training for Healthcare Providers: Provide training for healthcare providers on the importance of accurately documenting family history and the implications for genetic testing. This can help reduce biases in data entry and ensure that all relevant information is captured.

Utilization of Advanced Analytics: Implement advanced analytics and machine learning algorithms to identify patterns and gaps in family history data. These tools can help flag patients who may be at risk but have incomplete records, prompting further investigation.

Collaboration with Genetic Counselors: Foster collaboration between primary care providers and genetic counselors to ensure that patients with incomplete family history data are appropriately assessed and referred for genetic testing.

What are the broader implications of this study for the integration of genomic data and family history information into clinical decision-making and personalized cancer prevention and management approaches?

The findings of this study have significant implications for the integration of genomic data and family history information into clinical decision-making and personalized cancer prevention and management:

Enhanced Risk Stratification: The study highlights the potential of EHR-derived family history screening to identify individuals at high risk for hereditary cancers. This can lead to more effective risk stratification, allowing healthcare providers to tailor screening and prevention strategies based on individual risk profiles.

Personalized Treatment Plans: By integrating genomic data, such as BRCA1/2 positivity, into clinical practice, healthcare providers can develop personalized treatment plans that consider a patient’s genetic predisposition. This could include targeted therapies and preventive measures that are more effective for high-risk individuals.

Improved Patient Outcomes: Early identification of individuals at high risk for hereditary cancers can lead to timely interventions, potentially improving patient outcomes. Personalized cancer prevention strategies, such as increased surveillance or prophylactic surgeries, can significantly reduce cancer incidence in high-risk populations.

Informed Clinical Guidelines: The study's findings can inform clinical guidelines and recommendations for genetic testing and cancer screening. As more data becomes available, guidelines can be updated to reflect the importance of family history and genomic information in cancer risk assessment.

Integration of Multidisciplinary Care: The study underscores the need for a multidisciplinary approach to cancer care, involving genetic counselors, oncologists, and primary care providers. This collaborative model can enhance the management of patients with hereditary cancer risks and ensure comprehensive care.

Policy Implications: The results may influence healthcare policies regarding genetic testing and cancer prevention programs. Policymakers could advocate for the inclusion of genetic testing as a standard part of cancer risk assessment in clinical practice, ultimately leading to broader access and utilization of these services.