Elective genomic testing: Practice resource of the National Society of Genetic Counselors

Carrie L. Blout Zawatsky, David Bick, Louise Bier, Birgit Funke, Matthew Lebo, Katie L. Lewis, Ekaterina Orlova, Emily Qian, Lauren Ryan, Marci L.B. Schwartz, Emily R. Soper

Research output: Contribution to journalReview articlepeer-review


Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic conditions before there is a significant health impact permitting earlier management and/or treatment. Pre- and post-test counseling for EGT is similar to indication-based genetic testing. Both require a complete family and medical history when ordering a test or interpreting a result. However, EGT counseling has some special considerations including greater uncertainties around penetrance and clinical utility and a lack of published guidelines. While certain considerations in the selection of a high-quality genetic testing laboratory are universal, there are some considerations that are unique to the selection of a laboratory performing EGT. This practice resource intends to provide guidance for genetic counselors and other healthcare providers caring for adults seeking pre- or post-test counseling for EGT. Genetic counselors and other genetics trained healthcare providers are the ideal medical professionals to supply accurate information to individuals seeking counseling about EGT enabling them to make informed decisions about testing and follow-up.

Original languageEnglish
Pages (from-to)281-299
Number of pages19
JournalJournal of Genetic Counseling
Issue number2
StatePublished - Apr 2023


  • direct-to-consumer genetic testing (DTC)
  • genetic counseling
  • genetic testing
  • population screening
  • predictive genetic testing


Dive into the research topics of 'Elective genomic testing: Practice resource of the National Society of Genetic Counselors'. Together they form a unique fingerprint.

Cite this