Secondary findings from genetic testing
- Kurt Christensen, MPH, PhD
Kurt Christensen, MPH, PhD
- Brigham and Women's Hospital and Harvard Medical School
- Sarah S Kalia, ScM, CGC
Sarah S Kalia, ScM, CGC
- Genetic Counselor and PhD student
- Harvard T.H. Chan School of Public Health
- Robert C Green, MD, MPH
Robert C Green, MD, MPH
- Associate Professor of Medicine
- Brigham and Women's Hospital and Harvard Medical School
The increasing use and capabilities of genomic tools such as whole genome sequencing and exome sequencing raise important questions about how to handle health-related information that may inform prevention or treatment strategies, but are unrelated to the reasons testing was ordered. The questions of whether – and how – to disclose these secondary findings (also called incidental findings) from genetic testing have generated much debate, and the importance of how these questions are answered is expected to grow as laboratories and physicians transition to whole genome and whole exome sequencing rather than targeted gene panels.
This topic review discusses an approach to the disclosure of secondary findings from genetic testing.
Overviews of related subjects are presented separately:
●Genomic disorders – (See "Genomic disorders: An overview".)
●Next generation DNA sequencing – (See "Principles and clinical applications of next-generation DNA sequencing".)
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- DEFINITIONS AND CLASSIFICATION OF VARIANTS
- LIKELIHOOD OF DETECTING A SECONDARY FINDING
- INFORMED CONSENT
- DISCLOSURE OF SECONDARY FINDINGS TO PATIENTS
- Decisions made by the laboratory
- Review patient report
- Disclose secondary findings to the patient
- Interpretation of "negative" results
- FOLLOW-UP CARE AND RECORD KEEPING
- Additional evaluation
- Electronic data storage
- Postmortem disclosure
- Liability concerns
- SPECIAL POPULATIONS
- Underrepresented ethnicities
- Research subjects
- ONLINE INFORMATION AND RESOURCES
- SUMMARY AND RECOMMENDATIONS