By Justin Farris

Phosphorus Research: CDC Tier 1 Genomic Applications: Awareness Among GCs and Potential for Impact on GC Practices

At last week’s National Society of Genetic Counselors (NSGC) Annual Conference in Columbus, Ohio, discussion centered on the way the genetic counseling industry continues to evolve, with speakers addressing developments in the industry and presenting novel insights. Phosphorus was proud to present its scientific poster, “CDC Tier 1 Genomic Applications: Awareness Among GCs and Potential for Impact on GC Practices” Saturday. The poster detailed findings from a survey disseminated by Phosphorus to gather insight into how GCs understand and employ the CDC recommendations on genetic testing. Select text from the study is below:

Methods:
A 10-question survey designed in Survey Monkey was distributed to genetic counselors through various NSGC forums. Membership of these various groups at the time of sending totaled 2,973. GCs may be a member of more than one special interest group (SIG) and may or may not be subscribed to receive emails posted to the forums. Respondents were asked several questions with answer categories modeled after those of the most recent NSGC Professional Status Survey: specialty area(s); graduation date with M.S. in Human Genetics or the equivalent; and whether or not they were currently working in a clinical role.

Results:
Q.
Are you familiar with the CDC’s Tier 1 genomic applications?
A.
46.88% (n=105) responded that they had never heard of the CDC’s Tier 1 genomic applications.
26.34% (n=59) responded that the CDC’s Tier 1 genomic applications sounded vaguely familiar.
18.30% (n=41) responded that they were somewhat familiar with the applications but couldn’t say what they are.
8.48% (n=19) responded that they understood the concept behind the Tier 1 genomic applications.

Discussion
The results indicate that most GCs are not very familiar with the CDC’s Tier 1 Genomic Applications, but when provided with a short explanation as to what they were, nearly half (48%) indicated that they thought they should try to identify patients who meet testing guidelines for these conditions and facilitate ordering of testing.

Of this subgroup (n=107), 49% indicated that their approach to family history intake was targeted, dependent on reason for referral, suggesting that they are not currently capturing patients who may be appropriate for testing related to one or more of the CDC’s current Tier 1 Genomic Applications.

In the 79 comments left (25 by GCs who answered “Yes” and 54 by GCs who answered “No”), the overwhelming viewpoint expressed by genetic counselors was that they should identify appropriate patients but refer on for testing if the indications were not within the scope of their practice. Most of the genetic counselors responding “No” emphasized that they would make an appropriate referral, suggesting that support among genetic counselors for helping to identify patients appropriate for testing related to the CDC Tier 1 Genomic Applications may be much higher if their role were more specifically defined as facilitating referrals.

Several GCs commented that they already do this for BRCA and Lynch syndrome but not for familial hypercholesterolemia (FH) and would consider doing so. Many genetic counselors also commented that they would need to learn more about FH.

Conclusion:
Survey results suggest that greater awareness of CDC Tier 1 Genomic Applications among genetic counselors could impact their family history intake and identification of patients appropriate for related testing. Given that addressing additional indications within genetic counseling sessions may not be practical or ideal, systems for flagging and communicating back the indication for testing to the referring or primary care provider are likely needed and could potentially be integral part of an EHR.

Recommendations from the Cancer and Cardiovascular SIGs and the FH working group in particular may be helpful regarding which supplemental family history questions could be asked to help identify these patients.

View the poster below:
Poster #C-9 v.2

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