CDC Study Assesses Genetic Testing's Impact on Health Outcomes

Some genomic tests developed to personalize medical decisions about cancer care are beneficial, while for others the evidence is uncertain and reliance on the test might even lead to poorer medical management of cancer in some cases, according new recommendation statements from an expert panel.

The statements appear in the January issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics and published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

Genetic tests for tumor gene expression in women with early-stage breast cancer to detect those at risk for cancer recurrence, the panel wrote, are based on insufficient evidence to determine whether they offer any improvement in health outcomes. The panel also found insufficient evidence to recommend testing for variants of the gene UGT1A1 in patients undergoing chemotherapy for metastatic colorectal cancer to inform use of the chemotherapy drug irinotecan.

While the test might be useful in identifying patients at risk of side effects from the drug, reducing irinotecan dosage may be more harmful than the side effects, so the clinical utility of the UGT1A1 test is questionable, at best, it said.

On the other hand, genetic testing for Lynch syndrome, a hereditary condition that increases the risk of colorectal cancer, is useful to recommend screening relatives for the mutations that cause the syndrome and encouraging them to have regular colorectal cancer exams, the panel found.

"Our reviews of the evidence found that in some situations genetic testing may be helpful, but that in others, including for some genetic tests currently used in cancer care, there is not enough evidence available to determine the balance of benefits and harms," said Alfred Berg, M.D., M.P.H., chair of the working group that produced the recommendations. These recommendation statements are the most recent analyses from the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.

As the number of available genetic tests continues to increase, so do questions regarding their appropriate use. The EGAPP initiative was developed by the National Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC), with the goal of supporting evaluation of genetic tests and other genomic applications that are in transition from research to clinical and public health practice. The independent EGAPP Working Group based its recommendations on commissioned, systematic reviews of available studies addressing the validity and utility of specific types of genetic tests.

For more information, go to www.egappreviews.org.

Download Center

  • OSHA Recordkeeping Guide

    In case you missed it, OSHA recently initiated an enforcement program to identify employers who fail to electronically submit Form 300A recordkeeping data to the agency. When it comes to OSHA recordkeeping, there are always questions regarding the requirements and ins and outs. This guide is here to help! We’ll explain reporting, recording, and online reporting requirements in detail.

  • Incident Investigations Guide

    If your organization has experienced an incident resulting in a fatality, injury, illness, environmental exposure, property damage, or even a quality issue, it’s important to perform an incident investigation to determine how this happened and learn what you can do to prevent similar incidents from happening in the future. In this guide, we’ll walk you through the steps of performing an incident investigation.

  • Lone Worker Guide

    Lone workers exist in every industry and include individuals such as contractors, self-employed people, and those who work off-site or outside normal hours. These employees are at increased risk for unaddressed workplace accidents or emergencies, inadequate rest and breaks, physical violence, and more. To learn more about lone worker risks and solutions, download this informative guide.

  • Job Hazard Analysis Guide

    This guide includes details on how to conduct a thorough Job Hazard Analysis, and it's based directly on an OSHA publication for conducting JHAs. Download the guide to learn how to identify potential hazards associated with each task of a job and set controls to mitigate hazard risks.

  • The Basics of Incident Investigations Webinar

    Without a proper incident investigation, it becomes difficult to take preventative measures and implement corrective actions. Watch this on-demand webinar for a step-by-step process of a basic incident investigation, how to document your incident investigation findings and analyze incident data, and more. 

  • Vector Solutions

Featured Whitepaper

OH&S Digital Edition

  • OHS Magazine Digital Edition - November December 2022

    November December 2022

    Featuring:

    • IH: GAS DETECTION
      The Evolution of Gas Detection
    • OSHA TOP 10
      OSHA's Top 10 Most Frequently Cited Standards for FY 2022
    • FALL PROTECTION
      Enhance Your Fall Protection Program with Technology
    • 90TH ANNIVERSARY
      The Future: How Safety WIll Continue to Evolve
    View This Issue