RARE Daily

Group Calls for Use of Genome Sequencing as First Line Test for Patients Suspected of Genetic Disease

April 17, 2024

Rare Daily Staff

The Medical Genome Initiative, a group made up of sequencing giant Illumina and leading clinical genomics laboratories, has called for the use of genome sequencing as a first line test for patients suspected of having a genetic disease.

The call came in a comment published in the journal NPJ Genomic Medicine.

The group noted that there is increasing evidence that genome sequencing can end the diagnostic odyssey for approximately 20 percent to 60 percent of neonates and approximately 17 percent to 40 percent of pediatric patients suspected of having a genetic disease. The authors noted that studies suggest up to 77 percent of patients receive a change in care as a result of findings from genome sequencing.

They also said health economic studies have found that genomic sequencing as a first-line test can be cost-effective compared to other genetic tests.

Nevertheless, the authors note that despite advancement, only a small fraction of the population is covered for genome sequencing and sequencing remains inaccessible to the vast majority of people living in low- and middle-income countries. Even in wealthier countries where coverage for testing exists, they said it is underutilized and there is limited physician awareness, long wait times, and challenges navigating health insurance.

The authors outlined several recommendations to improve access and expand the use of genome sequencing. They included:

  • Prioritize policy and funding support for genome sequencing coverage and provide resources to support universal coverage of genome sequencing as a first-line test for appropriately indicated patients.
  • Incorporate health technology assessment processes and cost-effectiveness assessments to provide ongoing assessment of both the clinical utility and cost-effectiveness of genome sequencing and genome-informed care within the local healthcare system.
  • Reduce administrative barriers by streamlining pre-authorization, eliminating co-pays and other out-of-pocket expenses.
  • Prioritize equitable access to genome sequencing to ensure all patients, regardless of background or socioeconomic status, can benefit from genome sequencing.
  • And continue development of evidence-based guidelines for genome sequencing to inform its use.

The group also called for comprehensive care coordination, clinician education and training, and efforts to increase public awareness.

“These actions call upon a wide range of stakeholders, including governments, healthcare systems, professional societies, educational institutions, NGOs, and industry, to collaborate to address the challenges and disparities in genetic testing access and utilization,” the authors said.

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