Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing

J Genet Couns. 2016 Aug;25(4):691-7. doi: 10.1007/s10897-015-9868-y. Epub 2015 Aug 5.


Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor's experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved from a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing.

Keywords: Consenting; Genetic counseling; Genomic testing; Research; Whole exome sequencing.

MeSH terms

  • Counselors / psychology*
  • Exome
  • Female
  • Genetic Counseling*
  • Genetic Testing*
  • Humans
  • Professional-Patient Relations*
  • Sequence Analysis, DNA*