Abstract
In recent years, next generation sequencing technologies (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the emerging approaches, known as whole exome (WES) and whole genome (WGS) sequencing, are starting to be integrated in the clinical arena, we sought to identify barriers to the implementation of WES/WGS, to enhance our knowledge of current practices regarding their integration in clinic/research, and to evaluate the impact of WES/WGS on patient care. To this end, we recruited a total of 221 genetic counselors who participated in an anonymous online survey. Of these, 76 reported that they currently offer WES/WGS to their patients. Our results showed that genetic counseling practices with respect to WES/WGS are consistent with the criteria set forth in the ACMG 2012 policy statement, which highlights indications for testing, reporting, and pre/post test considerations. Our respondents described challenges related to offering WES/WGS, which included billing issues, the duration and content of the consent process, result interpretation and disclosure of incidental findings and variants of unknown significance. In addition, respondents indicated that specialty area (i.e., prenatal and cancer), lack of clinical utility of WES/WGS and concerns about interpretation of test results were factors that prevented them from offering this technology to patients. Finally, study participants identified the aspects of their professional training which have been most beneficial in aiding with the integration of WES/WGS into the clinical setting (molecular/clinical genetics, counseling and bioethics) and suggested that counseling aids and webinars focused on WES/WGS would be useful educational tools. Future research should be focused on assessing the impact of WES/WGS on patients and families and on evaluating the involvement of genetic counselors in the informed consent process for these technologies.