The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Yvonne Bombard, Kyle B. Brothers, Sara Fitzgerald-Butt, Nanibaa’ A. Garrison, Leila Jamal, Cynthia A. James, Gail P. Jarvik, Jennifer B. McCormick, Tanya N. Nelson, Kelly E. Ormond, Heidi L. Rehm, Julie Richer, Emmanuelle Souzeau, Jason L. Vassy, Jennifer K. Wagner, Howard P. Levy

Research output: Contribution to journalReview article

10 Citations (Scopus)

Abstract

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.

Original languageEnglish (US)
Pages (from-to)578-595
Number of pages18
JournalAmerican Journal of Human Genetics
Volume104
Issue number4
DOIs
StatePublished - Apr 4 2019

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Duty to Recontact
Genetic Research
Medical Genetics
Research
Virulence
Research Personnel
Organizations
Counselors

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Bombard, Y., Brothers, K. B., Fitzgerald-Butt, S., Garrison, N. A., Jamal, L., James, C. A., ... Levy, H. P. (2019). The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. American Journal of Human Genetics, 104(4), 578-595. https://doi.org/10.1016/j.ajhg.2019.02.025
Bombard, Yvonne ; Brothers, Kyle B. ; Fitzgerald-Butt, Sara ; Garrison, Nanibaa’ A. ; Jamal, Leila ; James, Cynthia A. ; Jarvik, Gail P. ; McCormick, Jennifer B. ; Nelson, Tanya N. ; Ormond, Kelly E. ; Rehm, Heidi L. ; Richer, Julie ; Souzeau, Emmanuelle ; Vassy, Jason L. ; Wagner, Jennifer K. ; Levy, Howard P. / The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. In: American Journal of Human Genetics. 2019 ; Vol. 104, No. 4. pp. 578-595.
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abstract = "The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.",
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Bombard, Y, Brothers, KB, Fitzgerald-Butt, S, Garrison, NA, Jamal, L, James, CA, Jarvik, GP, McCormick, JB, Nelson, TN, Ormond, KE, Rehm, HL, Richer, J, Souzeau, E, Vassy, JL, Wagner, JK & Levy, HP 2019, 'The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results', American Journal of Human Genetics, vol. 104, no. 4, pp. 578-595. https://doi.org/10.1016/j.ajhg.2019.02.025

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. / Bombard, Yvonne; Brothers, Kyle B.; Fitzgerald-Butt, Sara; Garrison, Nanibaa’ A.; Jamal, Leila; James, Cynthia A.; Jarvik, Gail P.; McCormick, Jennifer B.; Nelson, Tanya N.; Ormond, Kelly E.; Rehm, Heidi L.; Richer, Julie; Souzeau, Emmanuelle; Vassy, Jason L.; Wagner, Jennifer K.; Levy, Howard P.

In: American Journal of Human Genetics, Vol. 104, No. 4, 04.04.2019, p. 578-595.

Research output: Contribution to journalReview article

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T1 - The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

AU - Bombard, Yvonne

AU - Brothers, Kyle B.

AU - Fitzgerald-Butt, Sara

AU - Garrison, Nanibaa’ A.

AU - Jamal, Leila

AU - James, Cynthia A.

AU - Jarvik, Gail P.

AU - McCormick, Jennifer B.

AU - Nelson, Tanya N.

AU - Ormond, Kelly E.

AU - Rehm, Heidi L.

AU - Richer, Julie

AU - Souzeau, Emmanuelle

AU - Vassy, Jason L.

AU - Wagner, Jennifer K.

AU - Levy, Howard P.

PY - 2019/4/4

Y1 - 2019/4/4

N2 - The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.

AB - The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.

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