Journal of Genetic Counseling

, Volume 23, Issue 5, pp 742–753 | Cite as

Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report

  • Saskia van den BergEmail author
  • Yaoqing Shen
  • Steven J. M. Jones
  • William T. Gibson
Case Presentation


As the health care system moves further toward enhanced patient empowerment, many members of the general population are seeking medical answers for themselves in their genome. Direct-to-consumer (DTC) companies offer genetic testing that promises to establish ancestry and predisposition to traits, diseases and conditions (Harris et al. 2013). DTC companies predominately offer panel-based testing, which interrogates single nucleotide polymorphisms (SNPs) in or near specific genes. Some panels target ancestry; others target SNPs that have been associated statistically with disease. The true predictive value of panels that incorporate numerous SNPS into mathematical risk modeling is unknown, particularly when considering the small proportion of the overall heritability of a trait that is accounted for by these genetic variants (McCarthy et al. 2008). Perhaps in response to this and to concerns articulated by regulatory authorities, some companies have left the DTC medical...


Genetic Counseling Rare Variant Polycystic Ovarian Syndrome Exome Sequencing Familial Hypercholesterolemia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The authors gratefully acknowledge the generosity of the family in providing samples and clinical details for this study, particularly the consultand. Funding was provided in part by the Canadian Institutes of Health Research Operating Grant FAS# F11-03592 to Dr. Gibson for the investigation of the role of rare DNA variants in common disease.

Conflict of Interest

Author van den Berg, Author Shen, Author Jones and Author Gibson declare that they have no conflict of interest. Primary data are held by the private company 23andMe. Sequence data (.bam files) provided back to the consultand by 23andMe have been provided to the Michael Smith Genome Sciences Centre under the joint control of the authors and the consultand, and are available to be reviewed by the journal upon request.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (UBC CREB, Canada) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study. Additional informed consent was obtained from all research subjects for whom identifying information is included in this article. Prior to first submission, the consultand was shown the manuscript to be published.

Human and Animal Rights

No animal studies were carried out by the authors for this article.


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Copyright information

© The Author(s) 2014

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 2.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • Saskia van den Berg
    • 1
    • 2
    Email author
  • Yaoqing Shen
    • 3
  • Steven J. M. Jones
    • 3
  • William T. Gibson
    • 1
    • 2
  1. 1.Department of Medical GeneticsUniversity of British ColumbiaVancouverCanada
  2. 2.Child and Family Research InstituteVancouverCanada
  3. 3.Canada’s Michael Smith Genome Sciences CentreBritish Columbia Cancer AgencyVancouverCanada

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