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. 2015;12(3):283-295.
doi: 10.2217/pme.14.89.

Illustrative case studies in the return of exome and genome sequencing results

Laura M Amendola  1 , Denise Lautenbach  2 , Sarah Scollon  3 , Barbara Bernhardt  4 , Sawona Biswas  5 , Kelly East  6 , Jessica Everett  7 , Marian J Gilmore  8 , Patricia Himes  8 , Victoria M Raymond  7 , Julia Wynn  9 , Ragan Hart  1 ; CSER Genetic Counseling Working Group; Gail P Jarvik  1
Affiliations

Illustrative case studies in the return of exome and genome sequencing results

Laura M Amendola et al. Per Med. 2015.

Abstract

Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop best practice recommendations for offering exome and genome testing and returning results. Genetic counselors in the CSER consortium have an integral role in the return of results from these genomic sequencing tests and have gained valuable insight. We present seven emerging themes related to return of exome and genome sequencing results accompanied by case descriptions illustrating important lessons learned, counseling challenges specific to these tests and considerations for future research and practice.

Keywords: case studies; clinical genomics; exome sequencing counseling; genetic; genome sequencing; genomic medicine; incidental ersonalized findings; medicine; return of results.

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Conflict of interest statement

Financial & competing interests disclosure

This work was funded by: UO1HG0006546, R21HG006596, R01HG006600, U01HG006485, U01HG006500, U01HG006492, UM1HG007301, UM1HG007292, UM1 HG006508, U01HG006487, U01HG006507, U01HG007307, R01HG006615, R21HG006613, R21HG006594, R01HG004500, R01HG006618, R01CA154517, R21HG006612. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Figures

Figure 1
Figure 1
Collective experience with return of results from germline genome sequencing, germline exome sequencing and tumor exome sequencing in various clinical contexts .
Figure 2
Figure 2
Framework for identifying and refining themes and illustrative cases.
See this image and copyright information in PMC

References

    1. National Human Genome Research Institute. Clinical Sequencing Exploratory Research (CSER) www.genome.gov.
    1. Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2014 doi: 10.1038/gim.2014.122. (Epub ahead of print) - DOI - PubMed
    1. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565–574. Provides recommendations for reporting incidental findings from clinical genomic sequencing and describes a minimum list of actionable conditions/genes/variants that are recommended to be returned. - PMC - PubMed
    1. American College of Medical Genetics. ACMG Updates Recommendation on “Opt Out” for Genome Sequencing Return of Results. www.acmg.net.
    1. Jarvik GP, Amendola LM, Berg JS, et al. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014;94(6):818–826. An important distinction between clinical research and medical care. They recommend that research results that meet an actionability threshold be offered for return to consenting participants; however, participants have a right to decline potentially medically actionable results. - PMC - PubMed