GENOMICS IN
PRACTICE
Broad
Genomic Profiling in Metastatic Cancer: Why Are So Many Eligible Patients Still
Missing It?
A
new JAMA Oncology cohort study puts a number on a gap NPs see every day in
oncology and primary care follow-up.
|
CLINICAL BOTTOM LINE Only about 1 in 5 privately
insured patients with newly diagnosed metastatic cancer received broad
genomic profiling (BGP) up front, and even in cancers where testing is
unequivocally guideline-recommended, uptake topped out under 50%. Older age,
frailty, female gender identity, and living outside the Northeast were all
independently associated with lower odds of testing. For NPs managing
oncology patients, or fielding "has this been done yet?" questions
in primary care, this is a call to build genomic testing checks into your own
workflow rather than assuming it's been handled. |
The Study, in Brief
Researchers from Yale and
colleagues used a novel claims-based algorithm to identify BGP use in the Blue
Cross Blue Shield Axis database, a nationwide administrative claims dataset.
They followed 51,908 privately insured adults aged 30 and older who were newly
diagnosed with one of the 10 most common metastatic solid tumors between
January 2020 and June 2022.
Because BGP does not have one
single, universal billing code, the team built an algorithm around BGP-specific
codes, "stacked" panels of 10 or more single-gene test codes billed
together, and unspecified molecular testing codes billed at $2,000 or more,
then checked results against the contemporaneous NCCN testing guidance for each
cancer type.
What They Found
•
Overall
BGP use was 20.3% across the full cohort of newly diagnosed metastatic cancers.
•
Use
rose over the study period, from 15.1% of patients in 2020 to 24.3% in 2022 —
real progress, but still leaving roughly three-quarters of patients untested by
2022.
•
Pancreatic
cancer saw the largest jump in testing, gaining 21.7 percentage points, though
pancreatic adenocarcinoma still carries a guideline recommendation for BGP.
•
Among
cancers where BGP is explicitly guideline-recommended, use ranged from 49.0% in
metastatic lung cancer down to just 8.8% in metastatic breast cancer — meaning
even the best-performing guideline-recommended group left roughly half of
eligible patients untested.
•
Among
cancers with equivocal recommendations, use ranged from 36.1% in colorectal
cancer to 3.7% in thyroid cancer.
•
On
multivariable analysis, patients were significantly less likely to receive BGP
if they were older, met claims-based frailty criteria, self-reported female
gender identity, or lived outside the Northeast census region.
Why This Matters at the Bedside
BGP (sometimes called
comprehensive genomic profiling or broad-panel next-generation sequencing, NGS)
looks across dozens to hundreds of genes in a tumor sample at once, rather than
testing one gene at a time. For cancers like non-small cell lung cancer,
identifying an actionable alteration (EGFR, ALK, ROS1, and others) up front can
change first-line therapy entirely, sparing a patient a round of chemotherapy
that was never going to be the best fit. When testing is delayed, skipped, or
done piecemeal, patients can end up starting broad chemotherapy before a
targeted option is ever identified — or never having that option surfaced at
all.
NPs are often the clinician who
orders the actual test in oncology and hematology-oncology practices, and just
as often the one who notices a gap when a patient with metastatic disease shows
up for a wellness visit, symptom management, or supportive care and there is no
genomic testing anywhere in the chart. Either way, this study is a reminder
that guideline-recommended does not mean reliably done, and that a routine
check of whether BGP has occurred is a meaningful, low-cost intervention.
|
CASE FROM PRACTICE A 68-year-old woman with newly
diagnosed metastatic pancreatic adenocarcinoma is referred to your primary
care NP practice for symptom management while she awaits her first oncology
appointment. Reviewing the chart, you notice imaging and staging are complete,
but there is no mention of molecular or genomic testing anywhere in the
records. Consistent with the
disparities this study identified — older age and, often, delays tied to
frailty and comorbidity burden — this is exactly the patient profile least
likely to have BGP ordered promptly. A brief note to the oncology team
flagging that BGP/NGS status should be confirmed before treatment planning
finalizes can close a gap before it costs the patient a targeted-therapy
option. |
Reading the Data With
Appropriate Caution
|
A NOTE ON THE NUANCE This was a retrospective,
claims-based study of privately insured patients only — it does not capture
Medicaid, uninsured, or (apart from a Medicare Advantage subgroup)
traditional Medicare populations, all groups that may face different or
greater testing barriers. Race and ethnicity data were
excluded due to high rates of missingness in the claims dataset, so this
analysis cannot speak to racial or ethnic disparities in BGP access, which
prior literature suggests are also significant. The algorithm identifies
billed testing, not confirmed receipt of results or their use in treatment
decisions, and the study did not assess downstream outcomes such as whether
identified alterations changed therapy or improved survival. Findings reflect histologic
subtypes with the most established guidance (e.g., nonsquamous NSCLC,
cutaneous melanoma, pancreatic adenocarcinoma) and may not generalize evenly
across all subtypes within a cancer type. |
Board & Practice Prep
A few concepts worth locking in,
whether you're prepping for certification or just tightening up
oncology-adjacent practice:
•
Broad
genomic profiling (BGP) / comprehensive genomic profiling: multi-gene,
panel-based tumor testing (often 50–500+ genes), distinct from single-gene
testing or narrow hotspot panels.
•
NCCN
guidance tiers testing recommendations by cancer type as recommended, useful in
certain contexts, or not routinely indicated — know that
"guideline-recommended" varies by histologic subtype, not just cancer
type.
•
Actionable
alterations in metastatic NSCLC (EGFR, ALK, ROS1, BRAF, MET, RET, NTRK, KRAS
G12C) are the classic board-exam example of why upfront BGP changes first-line
treatment selection.
•
Claims-based
frailty indices (e.g., the Kim Frailty Index used in this study) are
increasingly used in health services research to identify vulnerable subgroups
even without a formal geriatric assessment on the chart.
•
Disparities
in cancer biomarker testing are a recurring theme across the literature: age,
frailty, gender, geography, insurance type, and (where measurable)
race/ethnicity have all been independently associated with lower testing rates.
The Takeaway
Guideline recommendations for
genomic testing in metastatic cancer are only as good as their real-world
uptake — and right now, that uptake is well under half even for the strongest
recommendations. NPs sit at multiple points in this pathway: ordering the test,
coordinating with oncology, or simply being the clinician who asks the
question. A quick chart check for BGP/NGS status in any patient with newly
diagnosed metastatic disease costs little and may be the difference between a
patient receiving a targeted therapy and never being offered the chance.
Reference
Wang X, Rothen J, Huang S, et al. Adoption of broad genomic
profiling in patients with cancer. JAMA Oncol. 2025;11(6):666-668.
doi:10.1001/jamaoncol.2025.0499
