Genetic Testing and Targeted Therapies Are Being Overlooked for Cancer Patients

Despite strong, extensive evidence and recommendations from major scientific studies, people with cancer are still missing out on genetic testing and appropriate targeted therapies. Why?

The leading scientific journal New England Journal of Medicine (NEJM) published a comprehensive article on this issue on 8 December 2022. It described "the challenges of genetic testing in cancer as multifactorial and related to the absence of a coordinated decision-support system for precision cancer care" .

In the rapidly evolving field of cancer genetics, oncologists struggle to keep up with which genomic alterations are clinically relevant, which tests can detect them, turnaround times, the biological samples required and how to interpret often lengthy, complex results. Yet keeping up with all of this is essential.

Related topic: What Is Genetic Testing, How Is It Performed, and What Is Its Role in Cancer?

Problems and Challenges

Currently, the US Food and Drug Administration (FDA) has approved markers that indicate whether a patient with cancer is eligible for targeted drugs. There are 27 molecular biomarkers of this type.

The NEJM article examined patients diagnosed between 2010 and 2018 with stage 4 non-small cell lung cancer (NSCLC), drawing on data from 38 thousand patients, and found that, although testing for at least EFGR, ALK and ROS1 tumour alterations is recommended, only 22% had molecular test results in their medical records and only 3% received targeted treatment.

Research into the reasons identified many gaps in clinical practice. A US National Cancer Institute survey in 2017 had already highlighted these gaps.

Oncologists identified the following barriers to genetic testing:

• difficulty obtaining enough tissue for testing,
• insufficient time to order and review tests, or
• a lack of specialist staff to help interpret the results.

These factors were reported particularly by oncologists in rural communities or those working with limited staffing.

Precision cancer medicine requires several essential elements: comprehensive genomic analysis of tumours, expert interpretation of results, shared treatment decisions with patients based on those results, and administrative support to help patients access therapies.

Each step has multiple components that must be completed efficiently to provide treatment within an acceptable time frame.

Proposed Solutions

Potential solutions include embedding evidence-based decision-support tools directly in electronic health records so that, for example, entering a cancer diagnosis could prompt an alert showing the recommended biomarker testing for that tumour type.

Reports could also be sent to molecular tumour boards to help specialists interpret them and obtain an additional assessment.

Electronic health records for patients with cancer should include

• cancer status, including subtype and stage,
• general performance status,
• laboratory results and imaging, and
• genetic test results.

If genetic testing identifies treatment options for molecular targets, these can be entered into the electronic health record. When clinically appropriate for the patient, a treatment plan can be selected and started promptly.

Automated workflows supported by decision systems built around high-level evidence would be especially valuable for oncologists in smaller centres. However, they require sound computing infrastructure and, more importantly, close collaboration between information technology and oncology professionals to design and code the system. Examples of such systems are beginning to emerge.

Summary

Providing equitable, efficient access to precision oncology—treatment directed at molecular targets identified by genetic testing—is a global challenge. It requires coordinated efforts to ensure access to validated molecular tests, consistent healthcare and reimbursement systems that encourage test development, a multidisciplinary workforce to deliver precision care, and specialist information technology infrastructure.

Putting these elements in place could close the cancer genomic testing gap and change outcomes for many patients.