A patient’s genomic sequence information is an invaluable resource for medicine both in diagnosing disease and developing personalized therapies. However, there are technical and practical limitations to using and interpreting sequence data for clinical purposes.

In a recent issue of Genetic Testing and Molecular Markers, accomplished researchers review current practices for genomic sequencing and existing ethical and technical barriers to using genomic sequencing data. The article is part of a special issue on biobanking.

Ingrid Holm, MD, MPH, and Timothy Yu, MD, PhD, of Boston Children’s Hospital, Harvard Medical School, Boston, and Broad Institute of MIT/Harvard, Cambridge, Massachusetts, together with Steven Joffe, MD, MPH, from the University of Pennsylvania Perelman School of Medicine, Philadelphia, discuss how genomic data is collected and interpreted. They address ethical concerns including when to inform a patient of incidental findings. They also offer their perspective on clinical limitations that may make genomic data interpretation difficult, such as identifying a real result and deciding which results are reported to patients.

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“The researchers point out that most variants are novel or imperfectly annotated making it difficult for even clinically experienced teams to determine what results should and should not be returned to the participant,” explained Garth D. Ehrlich, PhD, FAAS, Center for Genomic Sciences and Center for Advanced Microbial Processing, Institute for Molecular Medicine and Infectious Disease, Drexel College of Medicine (Philadelphia) and editor-in-chief of Genetic Testing and Molecular Biomarkers.

“Some of the multiple compounding complexities articulated by the authors that must be considered prior to returning research results to study participants include: the participants indicated preferences; the risk of technical error (false findings); and ascertainment bias of variant risk in predicate studies. They might have also added the lack of knowledge of potential compensating variants elsewhere in the genome.”


1. Holm IA, Yu TW, Joffe S. From sequence data to returnable results: ethical issues in variant calling and interpretation [published March 1, 2017]. Genet Test Mol Biomarkers. doi:10.1089/gtmb.2016.0413