Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Abstract

Purpose

Clinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of Medical Genetics and Genomics (ACMG). Misattributed parentage is another type of unanticipated finding a laboratory may encounter during family-based ES/GS; however, there are currently no professional recommendations related to the proper consenting for and reporting of misattributed parentage encountered during ES/GS.

Methods

We surveyed 10 clinical laboratories offering family-based ES/GS regarding their consent language, discovery, and reporting of misattributed parentage.

Results

Many laboratories have already developed their own practices/policies for these issues, which do not necessarily agree with those from other labs.

Conclusion

There are several other possibilities besides true misattributed parentage that could result in similar laboratory findings, and laboratories often feel they lack sufficient information to make formal conclusions on a report regarding the true genetic relatedness of the submitted samples. However, understanding the genetic relatedness (or lack thereof) of the samples submitted for family-based ES/GS has medical relevance. Therefore, professional recommendations for the appropriate handling of suspected misattributed parentage encountered during ES/GS are needed to help standardize current clinical laboratory practices.

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Author information

Correspondence to Joshua L. Deignan PhD, FACMG.

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Disclosure

All authors are clinical service providers and are employed by laboratories that offer fee-based clinical sequencing. This employment is noted in the author affiliations. The authors declare no additional conflicts of interest beyond their employment affiliation.

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Keywords

  • exome
  • genome
  • sequencing
  • parentage
  • ethics

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