Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report
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CASE PRESENTATION
Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report Saskia van den Berg & Yaoqing Shen & Steven J. M. Jones & William T. Gibson
Received: 9 December 2013 / Accepted: 3 June 2014 / Published online: 24 June 2014 # The Author(s) 2014. This article is published with open access at Springerlink.com
Introduction 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 testing market (Kalf et al. 2014). Other companies are looking to expand their services to more comprehensive genetic testing, such as whole exome sequencing (WES). Although high-throughput genetic testing such as whole exome sequencing and whole genome sequencing (WGS) are typically offered only upon the request of a physician who is S. van den Berg : W. T. Gibson Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada S. van den Berg (*) : W. T. Gibson Child and Family Research Institute, A4-151, Bay 17, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada e-mail: [email protected] Y. Shen : S. J. M. Jones Canada’s Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada
caring for the patient (Yang et al. 2013), we were recently consulted by a woman who had had WES performed by 23andMe on a private-pay, direct-to-consumer basis as part of the company’s own in-house research protocol (the Exome 80X Pilot Program). Results of physician-ordered WES and WGS are returned to the requesting physician with an interpretation from the lab, though the physician must use his or her own professional judgment in making the final decision on whether to act on any variants flagged as “actionable” by the testing laboratory (Sturm and Manickam 2012). This woman first consulted us at a time when she had access to her raw data, but had not yet received the research report from 23andMe. Subsequent to our analysis, she did receive a report that flagged some (but not all) of the variants that we had identified, and listed several rare variants in other genes of medical interest. Thus, we had the opportunity to interpret what we considered medically actionable in
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