Hi everyone, it’s Deepti. I’m always looking for ways to shine light on hidden gems that bring value to NSGC. There are many… and even with the privileged platform that I hold, I can only mention a few. This time, I’m featuring NSGC’s Practice Guidelines Committee (PGC). The PGC supports the creation of our organization’s practice guidelines and practice resources. Did you know that these are some of the most highly cited documents in the genetic counseling literature?

During my time in the PGC chair rotation (2014-2016), NSGC’s Board made the decision to shift to an evidence-based guideline process. Integrating systematic evidence reviews was a big change and heavy lift. The goal was to elevate the process, outcomes – and impact – of our clinical guidance documents. It’s a goal that still applies, fitting squarely within the “Fostering Professional Excellence” pillar of NSGC’s Strategic Plan.

Since then, PGC members have carried this robust process forward, shaping it along the way. NSGC’s process yields documents that are highly referenced, and not only to guide the clinical practice of genetic counseling. Practice guidelines and practice resources impact reimbursement for genetic counseling and genetic testing, foster thought leadership for genetic counselors, are key resources for other healthcare providers and more. To learn more about these and related NSGC documents, see this Perspectives article.

I recently caught up with Holly Mueller (PGC Chair) and Ashley Svenson (PGC Vice-Chair) to learn more about how the committee is these days.

DB: Big picture, who is the Practice Guidelines Committee and what does your committee do?

HM: The PGC supports author groups through the development of various practice documents. We have three subcommittees: the conflict of interest (COI) subcommittee, the endorsement subcommittee, and the resources subcommittee. Together, the PGC ensures that we are facilitating rigorous, unbiased and impactful documents for the genetic counseling community.

AS: I want to stress the role of the PGC is to shepherd the various documents. PGC members do not write the documents, although they are involved in selecting author slates and can apply to be authors.

DB: Thank you for bringing clarity and for helping us see the big picture. I was wanting to have this conversation because I kept thinking about how powerful our guidelines are. What is the power of a practice guideline?

AS: I love practice guidelines because they have the ability to standardize how care is delivered across different communities. In any field of medicine, when a professional society issues a guideline, there is a defined standard of care that patients should receive regardless of all other variables, like ZIP code and insurance. Practice guidelines can also be very influential when it comes to developing policies and procedures for clinics, hospital systems, health plans and even state governments.

HM:  I agree. NSGC strives to amplify the voice of genetic counselors. These guidelines are a way to do that in a very systematic and evidence-based way.

DB: What you have described sounds like a triple threat, honestly. The guidelines are guiding practice, guiding policy and enabling genetic counselors to be thought leaders. That's a lot!

Each year, the PGC looks a little different. What is unique about this year?

HM: Out of 15 in-flight documents, 9 were published in 2022. It was a really exciting and crazy time! In 2023, we're in the process of selecting new topics. We also hired a methodologist this year, which we'll comment on a little bit further.

DB: Congratulations on those 9 documents. I know some of them were years in the making. So they just sort of all unleashed!

I hope that hiring a new methodologist results in another period of unlocking opportunity. That is not expertise that we as genetic counselors hold, generally speaking. Anything to add on the role of the methodologist?

AS: We have learned that hiring a contracted methodologist is critical, as they are responsible for training and supporting author groups through the GRADE process. I can’t overstate how important this help is! We had a lot of great applicants and we're thrilled to be in this place.

DB: How do you as a committee incorporate justice, equity, diversity and inclusion (J.E.D.I.) into your process and the documents?

AS: The first way is to ensure that we have diverse voices represented on the committee, as well as within the author groups. We also strive to use inclusive language within the documents. For example, we recently reviewed a practice resource on X-linked dystrophinopathies, and you can imagine how it could be tricky to use exclusively gender-neutral language when presenting that topic. We did research and worked closely with the author group and landed on language everyone agreed on. Lastly, when we're looking at topic proposals, we're always looking at them through a J.E.D.I. lens. The pedigree nomenclature practice resource is a great example of a document that advances inclusivity in patient care [and that NIH recognized in 2022 as an “Accomplishment in Genomic Medicine”].

HM: I will add another way we incorporate J.E.D.I. is that we have tried to put forward the voices of patient representatives or patient advocacy groups, by including them as authors or through collaboration.

DB: A distant bell pinged in my brain from when I was in your role. At that time, there was debate about whether a practice resource would be cited, since it’s not a practice guideline. But topics become practice resources because they are in an emerging, nascent space. It just goes to show there are different paths to accomplish these goals.

HM: If you ask a genetic counselor to compare, they’d probably say that a practice resource is more beneficial to their practice on a day-to-day basis. Practice resources allow experts to provide fairly concrete recommendations based on their expertise, without the [evidence] burden of a practice guideline. Recommendations in practice guidelines need to be supported by evidence as determined by GRADE. However, we often don't have sufficient evidence to support a recommendation. [Practice guidelines and practice resources] have different overall benefits, but both are incredibly important.

DB: That is such an interesting insight. I just wrote down “secret weapon” because that's what I'm hearing about practice resources.

So, what have you learned or been most surprised by during your time on the practice guidelines committee?

AS: During my first stint on the PGC, I was the liaison to the telegenetics practice guideline and I witnessed the development, and I was struck by how structured the GRADE process is.

HM: I agree! I was naive to how much is required to select a topic, create the author group, facilitate the writing and manage the project. Each document goes through a comprehensive review process that involves legal review, ethics review, member comment, NSGC Board approval and review by the Journal of Genetic Counseling.

DB: I'm hoping readers will be inspired to join the PGC – I’m certainly feeling it! Since the NSGC Call for Volunteers is in September, who should consider applying to the PGC and who might make an ideal candidate?

AS: I hope people will consider applying to join! We consider multiple variables when reviewing applications. We do ask about research experience but it is only one variable. We want members from various specialties and diverse backgrounds. You could be a GC working in clinic or industry, be a GC who has practiced for a while or a recent graduate.

HM: I would encourage anyone to apply. There is still so much opportunity and potential for this committee, but we depend on volunteers!

DB: It is a tremendous opportunity to learn and develop skills that can transfer to other parts of our life, like project management. I know many of us are working on that skill.

Thank you, Holly and Ashley, for sharing your insights.

And a big thanks to the entire Practice Guidelines Committee team: Ana Morales, Andrea Murad (Past Chair), Elizabeth (Beth) Leeth, Erin Carmany, Jennifer Trotter (NSGC Staff Liaison), Jessica Laprise, Jillian Huang, Juliann McConnell, Katherine Anderson, Katherine Hunt Brendish, Kimberly (Kim) Barr (ACMG Liaison), Marissa Younan, Patrick Wilson (Board Liaison), Rachel Palmquist, Rebecca Freeman, Samantha Freeze and Whitney Espinel.  

Are you inspired to apply to the PGC and want to learn more? Do you have a topic idea for a practice guideline or practice resource? Visit the PGC webpage for more details, or email Holly Mueller or Ashley Svenson with your questions.

Note: This article reflects the essence of the full conversation. It was edited for length and readability. Click here if you’d like to listen to the entire 34-minute conversation (with bonus questions!).

---