A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DNA (mtDNA) variants from whole-genome sequencing (WGS) data. However, mtDNA mutations may cause unanticipated, extended phenotypes and have reproductive implications. We recommend that these be considered by patients and clinicians before embarking on WGS.
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R.D.S.P. is supported by a Medical Research Council (UK) Clinician Scientist Fellowship (MR/S002065/1). W.L.M., M.G.H. and R.D.S.P. receive funding from a Medical Research Council (UK) strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) (MR/S005021/1). A.M.L. is supported by funding from a Wellcome Trust collaborative award 208053/Z/17/Z.
A.M.L. is a member of the Ethics Advisory Committee for Genomics England. The other authors declare no competing interests.
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Macken, W.L., Lucassen, A.M., Hanna, M.G. et al. Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications. Nat Rev Genet 22, 547–548 (2021). https://doi.org/10.1038/s41576-021-00381-5