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Hi all! I’m back from vacation & I’m ready to talk about GCs & genetic test ordering. A few things: this is not an official NSGC communication & I am no longer on the BOD. However, as NSGC's 2018 President, I’ve spent a lot of time on this issue & learned a lot. #GCchat
This is not solely directed at ACMG, though I wholly disagree with their stance & urge those who feel the same to contact their BOD & voice their concerns. This is a critical issue & I would like to enable educated, data-driven, respectful conversations between all involved.
This will be a long one. I'll thread all tweets & so as to not blow up inboxes, will tag everyone I mention at the end so you can find them. I'll also do my best to continue & facilitate the discussion here. But to contact NSGC, I suggest emailing them - nsgc at nsgc dot org.
That's not to keep them out of the conversation - trust me, our leadership is paying very close attention & you'll likely hear from some of them. 🙂 It is to ensure that you get a thoughtful direct response & email is better for that than Twitter.
Let's do this! First - from ACMG “The ACMG believes that optimal patient care requires that genetic counselors work with or under the direction of a medical geneticist or other physician knowledgeable about the application of genetics and genomics information within their field.”
From NSGC's 2019 Professional Status Survey (PSS), at least 86% of GCs in direct care roles see cancer (50%) or prenatal (36%) patients. The majority of these work primarily with non-geneticist MDs & other clinicians.

More PSS info: nsgc.org/page/whoaregen…
This IS NOT to say that other docs/clinicians aren't knowledgeable about genetics & can't/shouldn't order genetic testing. HR3235 DOESN'T in any way preclude any clinician from ordering. But ACMG is stating that all of these GCs should be supervised by geneticists.
That's neither necessary nor feasible given the distribution of GCs and the medical geneticist workforce, which doesn't have the numbers or the growth rate of the GC workforce. GCs have doubled in size in the past 10 yrs & are expected to double in size again in the next 10.
Data from ACMG states that in 2015, there were 1,505 board-certified medical geneticists, but many of these were no longer seeing patients. One year ago, ACMG estimated there are only ~2 clinical geneticists per 1 million citizens AT MOST.

From the same paper: "a quarter of the consumers ... reported lack of providers with expertise in their particular genetic condition" was a barrier to accessing genetics services. ~1/2 of adults with genetic disorders & >1 in ten children waited >5 yrs from symptoms to diagnosis.
Patient access to knowledgeable & qualified genetics experts should be paramount. The 2018 PSS shows that patient wait times for appointments increase substantially when an MD is present. Pediatrics & general genetics - where MD geneticists predominate - have the worst delays.
If you look at the data for general genetics, 42% of GCs say they can see their 3rd next patient within 29 days (29% can within 2 weeks). When an MD is involved, only 19% can meet 29 days. 24% wait longer than 6 months. This suggests MD geneticists don't have bandwidth to spare.
Cardiology is striking. 42% of GCs can see their 3rd next patient within 1 week (65% within 2 wks). None can see their 3rd next patient within 1 wk if seen with an MD. So this can't necessarily be passed on to other MDs either - who may or may not have genetic testing expertise.
However, this is not to say that GCs never need MD collaboration. But when GCs can care for a patient independently, that patient should not need to wait for an MD to see them just to order the test. Or for an MD who has never met the patient just to sign off on the order.
Look at cancer. 58% of GCs report they never see patients with an MD for an initial consult or results appt. Recall that hereditary cancer counseling is the largest specialty area for GCs. Begs the question - are they doing it well?

There is NO evidence to suggest they aren't.
I'm certainly open to being corrected here, but I'm not aware of any published research or other evidence that demonstrates that GCs are systematically ordering genetic tests poorly. Certainly not that adversely impacts patient safety or care.
An Aetna study found that women undergoing BRCA testing, patients who met with a genetics clinician were more likely to meet criteria for testing. They also reported greater understanding of the info received & higher satisfaction.

In fact, GCs are often used in testing utilization management roles to identify & correct inappropriate test orders. ARUP, Seattle Children's PLUGS & many others have GCs review & correct test orders from non-genetics experts who are mostly MDs.
The next fair question is how are non-genetics-expert clinicians doing when they order?

From ARUP - "26% of all requests for complex molecular genetic tests assessing germline mutations were changed following GC review".

ARUP gives some examples of clinical impact. There have also been many published case studies regarding mismanagement. Ellen Matloff can speak in much more detail than I – here are some of her papers:
The potential financial impact is also huge. Two NSGC-commissioned, independent analyses found enormous cost savings when GCs optimize appropriate test selection & use of only those genetic tests having adequate supportive evidence.
How huge? These independent experts estimate the potential Medicare savings from better identification of correct genetic tests could be as much as $4.0 billion to >6.5 billion over 10 years.

Sound crazy? A recent genetic testing fraud cost Medicare >$2B npr.org/2019/09/27/765…
Medicare will also recognize additional savings as GCs will be reimbursed at 85% of physician fees *if* an MD does not also bill for the visit.

How much? ~$50-135 million over 10 years.
GC autonomy, including the ability to order tests, can save billions of dollars while maintaining high-quality care and dramatically improve patient access. GCs work frequently & successfully with diverse teams of medical professionals across specialties.
And yes - GCs must absolutely be trained to know their limits and *like all clinicians* must know when to consult and/or refer for challenging cases or those where our expertise can't fully serve the patient.
I hope this drives discussion, but most importantly, I hope it adds facts to a discussion that desperately needs them. Thank you all for following along & please RT the first tweet to your audiences to ensure all stakeholders are part of the conversation.
And most importantly – GCs and non-GCs alike - contact your member of Congress to express your support for HR 3235. All of the information you need can be found here: nsgc.org/p/cm/ld/fid=612
Mentioned above: @TheACMG @GeneticCouns @schplugs @EllenMatloff. NSGC President @gillianhoo is also a phenomenal resource!
Addendum 1: Thanks for catching this omission Shanna. ACMG calls state licenses that allow for test ordering problematic. But consider that it opens an avenue for consumer complaints & loss of license if poor care were to occur.

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