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Regulatory changes raise troubling questions for genomic testing.

Barbara J Evans1, Michael O Dorschner2, Wylie Burke3

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New US regulations grant patients expanded access to genomic data from next-generation sequencing tests. Laboratories face significant operational and compliance challenges adapting to these new individual data access rights.

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Area of Science:

  • Genomic Medicine
  • Bioethics
  • Health Law

Background:

  • Federal privacy and laboratory regulations have been updated, creating new individual data access rights.
  • These expanded rights, effective October 6, 2014, present complex challenges for genomic testing laboratories in the United States.
  • The scope of these new access rights has been widely misunderstood.

Purpose of the Study:

  • To analyze regulatory texts and guidances to identify affected laboratories.
  • To determine which data generated during next-generation sequencing (NGS) will be accessible to patients and research subjects.
  • To highlight operational, business, compliance, and bioethical issues for laboratories.

Main Methods:

  • Analysis of federal regulatory texts and guidances.
  • Examination of data types generated by next-generation sequencing (NGS).
  • Review of implications for CLIA-regulated and non-CLIA-regulated research laboratories.

Main Results:

  • Patients tested at affected laboratories may access uninterpreted gene variant data (e.g., VCF, BAM, FASTQ files).
  • A regulatory defect may unintentionally subject non-CLIA-regulated research laboratories to these access requirements.
  • Laboratories face numerous operational, business, compliance, and bioethical challenges.

Conclusions:

  • Genomic testing laboratories must prepare for significant changes in patient data access.
  • Urgent action may be needed to address unintended consequences for non-CLIA-regulated research laboratories.
  • Adaptation to new regulations and FDA oversight frameworks for lab-developed tests is critical.