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Equity implications of patient-initiated recontact and follow-up in clinical genetics

European Journal of Human Genetics volume 31, pages 495–496 (2023)Cite this article

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The practice of recontact in clinical genetics has both the ability to rectify longstanding inequities in genetic testing, and the potential to perpetuate these same inequities. Recently, there has been a robust conversation about equity issues in clinical genetics, such as those resulting from the lack of diversity in genomic datasets, with corresponding efforts being made to identify and advance solutions [1]. While the broader conversation around equity in clinical genetics has progressed rapidly, the same is not true for equity in recontacting practices.

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References

  1. Jooma S, Hahn MJ, Hindorff LA, Bonham VL. Defining and achieving health equity in genomic medicine. Ethn Dis. 2019;29(Suppl 1):173–8.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Otten E, Plantinga M, Birnie E, Verkerk MA, Lucassen AM, Ranchor AV, et al. Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature. Genet Med: Off J Am Coll Med Genet. 2015;17:668–78.

    Article  CAS  Google Scholar 

  3. Giesbertz NAA, van Harten WH, Bredenoord AL. A duty to recontact in genetics: context matters. Nat Rev Genet. 2019;20:371–2.

    Article  CAS  PubMed  Google Scholar 

  4. Appelbaum PS, Parens E, Berger SM, Chung WK, Burke W. Is there a duty to reinterpret genetic data? The ethical dimensions. Genet Med: Off J Am Coll Med Genet. 2020;22:633–9.

    Article  Google Scholar 

  5. Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, et al. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. Eur J Hum Genet: EJHG. 2019;27:169–82.

    Article  PubMed  Google Scholar 

  6. David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, et al. Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med: Off J Am Coll Med Genet. 2019;21:769–71.

    Article  Google Scholar 

  7. Bombard Y, Mighton C. Recontacting clinical genetics patients with reclassified results: equity and policy challenges. Eur J Hum Genet: EJHG. 2019;27:505–6.

    Article  PubMed  Google Scholar 

  8. Carrieri D, Lucassen AM, Clarke AJ, Dheensa S, Doheny S, Turnpenny PD, et al. Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom. Genet Med: Off J Am Coll Med Genet. 2016;18:876–81.

    Article  Google Scholar 

  9. Chisholm C, Daoud H, Ghani M, Mettler G, McGowan-Jordan J, Sinclair-Bourque L, et al. Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines. Genet Med: Off J Am Coll Med Genet. 2018;20:365–8.

    Article  Google Scholar 

  10. Vora BB, Mountain H, Nichols C, Schofield L. Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals. J Community Genet. 2022;13:193–9.

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

The authors would like to thank Hanna Faghfoury for comments on the manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

    Michael P. Mackley & Lauren Chad

  2. Department Bioethics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

    Lauren Chad

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  1. Michael P. Mackley
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Correspondence to Michael P. Mackley.

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Mackley, M.P., Chad, L. Equity implications of patient-initiated recontact and follow-up in clinical genetics. Eur J Hum Genet 31, 495–496 (2023). https://doi.org/10.1038/s41431-023-01341-9

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  • DOI: https://doi.org/10.1038/s41431-023-01341-9

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