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Genetic Counseling for Personal Genomic Testing: Optimizing Client Uptake of Post-Test Telephonic Counseling Services

  • Original Research
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Journal of Genetic Counseling


The field of genetic counseling faces a broad challenge: many potential clients may not be aware of the value and benefit of genetic counseling services, and therefore may not utilize those services. Navigenics is a personal genomic testing company that provides telephonic genetic counseling services for multifactorial diseases and pharmacogenetics. When first offered in 2008, utilization of the Navigenics genetic counseling service was less than expected. To explore the basis for under-utilization and potential mechanisms for increasing uptake, Navigenics initiated a quality improvement study, in which three different methods of engaging clients in the uptake of genetic counseling services were assessed over the course of 1 year. Outcomes showed significant differences in uptake rates between methodologies (7.5%, 24.6%, and 60.1%), yielding an 8-fold increase in service utilization when post-test telephonic outreach to all clients was performed. Further, utilization spanned all risk levels based on client results, evidence that not only clients with high-risk results were motivated to engage in the genetic counseling service. This research indicates that implementing strategies to educate clients about genetic counseling can positively impact client engagement and utilization of available services.

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Disclosure of Interest

All contributing authors have consented to the publication of this material, they have full control of all primary data and they agree to allow the journal to review the data if requested. All of the authors were employed by Navigenics, Inc. either as full-time employees or part-time contractors at the time of manuscript submission.

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Corresponding author

Correspondence to Elissa Levin.


Appendix 1: Out-of-range results criteria

The criteria below represent potential range of results released through the Navigenics testing service that the clinical staff deemed high-risk. The assessment that these results were considered significant resulted from a review by the Navigenics clinical and science staff, as well as external subject matter advisors. Considerations included the potential statistical significance of a specific result (for example, a result indicating a client’s genetic risk was in a top centile in comparison with the reference population), the potential risk for psychosocial impact based on professional clinical experience (for example, conditions with broad patient awareness or those that may not have proven prevention measures), as well as the potential impact of the combined set of results (for example, multiple elevated genetic risks for conditions). Clients identified for GC outreach during Phase 2 needed to meet at least one of these criteria.

  • Homozygosity for APOE e4/e4

  • Elevated risk for multiple sclerosis (>90th percentile)

  • Any individual result yielding greater than 60% estimated lifetime risk

  • Above population average risk for more than two types of cancer

  • Greater than eight above average results

  • Any genotyping no-calls (one of the assayed markers in the polygenic risk model did not meet quality metrics, requiring repeat testing in the CLIA lab)

Appendix 2: Conditions included in the testing service during the trial

Abdominal aortic aneurysm

Alzheimer’s disease, late onset

Atrial fibrillation

Breast cancer (females)

Celiac disease

Cerebral aneurysm

Colorectal cancer

Crohn’s disease

Deep vein thrombosis*

Diabetes, type 2

Gastric cancer

Glaucoma, exfoliating type

Graves disease


Lactose intolerance*

Lung cancer

Macular degeneration


Myocardial infarction

Multiple sclerosis



Prostate cancer (males)


Restless leg syndrome

Rheumatoid arthritis


Systemic lupus erythematosus

* Condition added to the testing panel in November 2009

Appendix 3: Sample outreach phone and email scripts

Phone script:

Hello, my name is [name of GC] and I am one of the genetic counselors at Navigenics. Recently you received your genetic results report, and I am calling to arrange your complimentary genetic counseling phone consultation. As genetic experts, we can help answer any questions you may have about understanding your results, and put your results in context with your family history. To arrange a convenient time to speak with us, please call our Member Services at 1-866-522-1585, M-F, 9 am-5 pm PT.

Email script:

Subject line: Schedule your complimentary genetic counseling session with Navigenics!

Dear [Client name],

Now that you have received your Navigenics results report, I wanted to remind you that Navigenics has board-certified genetic counselors who are available to help answer any questions you may have about your results.

As healthcare professionals who specialize in genetics, we can help make sure that you understand your results and how to best make use of the information. Some questions we commonly hear are:

  • I seem to have many conditions with an increased risk—where do I focus?

  • I am concerned about a specific condition for which I seem to have a high risk—what does this mean?

  • What do I do next now that I have my results?

  • How do my personal and family history fit into this?

To arrange a convenient time to speak with us, please call our Member Services at 1-866-522-1585, M-F, 9 am-5 pm PT.

Be assured that all of our conversations are strictly confidential. Learn more about our genetic counselors [link to GC information on Navigenics website].

Best wishes,

[Genetic counselor signature]

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Levin, E., Riordan, S., Klein, J. et al. Genetic Counseling for Personal Genomic Testing: Optimizing Client Uptake of Post-Test Telephonic Counseling Services. J Genet Counsel 21, 462–468 (2012).

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