Journal of Genetic Counseling

, Volume 23, Issue 4, pp 496–505 | Cite as

Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing

  • Kalotina MachiniEmail author
  • Jessica Douglas
  • Alicia Braxton
  • Judith Tsipis
  • Kate Kramer
Next Generation Genetic Counseling


In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g., genetic counselors, geneticists and nurse practitioners). Two hundred twenty-one genetic counselors— one third of whom currently offer WES/WGS—participated in an anonymous online survey. The aims of the survey were first, to identify barriers to the implementation of WES/WGS, as perceived by survey participants; second, to provide the first systematic report of current practices regarding the integration of WES/WGS in clinic and/or research across the US and Canada and to illuminate the roles and challenges of genetic counselors participating in this process; and third to evaluate the impact of WES/WGS on patient care. 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 (to assist them when explaining aspects of these tests to patients) and webinars focused on WES/WGS (for genetic counselors and other health care professionals) would be useful educational tools. Future research should permit us to further enhance our knowledge of pitfalls and benefits associated with the introduction of these powerful technologies in patient care and to further explore the roles and opportunities for genetic counselors in this rapidly evolving field.


Genetic counseling Whole exome sequencing Whole genome sequencing Clinical Research 



We would like to thank survey participants for completing our on-line questionnaire. We are thankful to Ted Cross for providing advice on statistical methodology for the analysis of data and for reviewing statistical analysis presented in this paper. We would also like to thank Rimma Shakhbatyan for assistance with statistical analysis, Gretchen Schneider and Beth Sheidley of the Brandeis Genetic Counseling Program for their helpful discussions and valuable insight as well as Melissa Goldberg for administrative assistance. This project has received support from the Brandeis University Graduate School of Arts and Sciences Master’s Research Fund.

Disclosure of conflict of interest

Kalotina Machini, Jessica Douglas, Judith Tsipis and Kate Kramer declare that they have no conflict of interest. Alicia Braxton works for the Baylor College of Medicine Medical Genetics Laboratory, which derives revenue from clinical whole exome sequencing.

Informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants for being included in the study.

Supplementary material

10897_2014_9709_MOESM1_ESM.docx (336 kb)
ESM 1 (DOCX 336 kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Kalotina Machini
    • 1
    Email author
  • Jessica Douglas
    • 2
  • Alicia Braxton
    • 3
  • Judith Tsipis
    • 1
  • Kate Kramer
    • 1
  1. 1.Genetic Counseling ProgramBrandeis UniversityWalthamUSA
  2. 2.The Feingold Center for ChildrenBoston Children’s HospitalWalthamUSA
  3. 3.Medical Genetics LaboratoriesBaylor College of MedicineHoustonUSA

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