Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforce
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2025,
Номер
unknown
Опубликована: Май 2, 2025
Abstract
Purpose
Artificial
intelligence
(AI)
applications
for
clinical
genetics
hold
the
potential
to
improve
patient
care
through
supporting
diagnostics
and
management
as
well
automating
administrative
tasks,
thus
enhancing
potentially
enabling
clinician/patient
interactions.
While
introduction
of
AI
into
is
increasing,
there
remain
unclear
questions
about
risks
benefits,
readiness
workforce.
Methods
To
assess
current
workforce’s
use,
knowledge,
attitudes
toward
available
medical
applications,
we
conducted
a
survey
involving
215
US-based
clinicians
trainees.
Results
Over
half
(51.2%)
participants
report
little
no
knowledge
in
64.3%
reported
formal
training
applications.
Formal
directly
correlated
with
self-reported
genetics,
69.3%
respondents
reporting
intermediate
extensive
vs.
37.5%
without
training.
Most
that
they
lacked
sufficient
(83.4%)
agreed
should
be
more
education
this
area
(97.6%)
would
take
course
if
offered
(89.3%).
The
majority
(51.6%)
clinician
said
never
used
clinic.
However,
after
tutorial
describing
75.8%
some
use
When
asked
specifically
application
usage,
facial
diagnostic
(54.9%)
AI-generated
genomic
testing
results
(62.1%),
whereas
other
such
chatbots,
large
language
models
(LLMs),
pedigree
or
summary
generators,
risk
assessment
were
only
by
fraction
clinicians,
ranging
from
11.1
12.5%.
Nearly
all
(94.6%)
professionals
being
overburdened.
Conclusion
Further
both
desired
needed
optimally
utilize
enhance
alleviate
strain
on
clinics.
Язык: Английский
Breast Cancer Prevention Practices and Knowledge in Italian and Chinese Women in Italy: Clinical Checkups, Free NHS Screening Adherence, and Breast Self-Examination (BSE)
Journal of Cancer Education,
Год журнала:
2024,
Номер
unknown
Опубликована: Июнь 26, 2024
Abstract
Breast
cancer
remains
a
significant
global
concern,
underscoring
the
critical
need
for
early
detection
and
prevention
strategies.
Primary
secondary
preventive
measures,
such
as
routine
screenings
behaviors
like
breast
self-examination
(BSE),
play
crucial
role
in
facilitating
diagnosis.
While
National
Health
System
(NHS)
Italy
offers
free
regular
women
aged
50–69,
there
is
lack
of
clarity
regarding
participation
both
Italian
Chinese
residing
these
screening
programs.
This
study
aims
to
bridge
this
knowledge
gap
by
thoroughly
assessing
involvement
clinical
check-ups
types
employed,
adherence
offered
NHS,
practice
BSE
among
50–69
two
groups.
Furthermore,
it
investigates
their
perceptions
BSE.
Results
reveal
disparities
control
between
Italy:
former
demonstrates
higher
checkups
(53%
vs.
3%,
p
<
0.001),
while
groups
show
low
NHS
(70%
4%,
0.001).
Additionally,
reported
significantly
lower
frequency
mammography
(96%
33%,
0.001)
ultrasound
(69%
16%,
The
also
differed
substantially,
with
47%
never
performing
compared
12%
(
comprehensive
exploration
provides
valuable
insights,
attitudes,
into
potential
areas
improvement
prevention,
thus
contributing
overall
well-being
communities.
findings
highlight
necessity
educational
initiatives
aimed
at
improving
awareness
screenings,
particularly
population.
These
could
have
profound
implications
patient
education
equipping
skills
necessary
engage
proactive
health
behaviors.
Язык: Английский
The Role of Prophylactic Gastrectomy in Gastric Adenocarcinoma and Proximal Polyposis of the Stomach: A Systematic Review
Journal of Clinical Medicine,
Год журнала:
2025,
Номер
14(7), С. 2522 - 2522
Опубликована: Апрель 7, 2025
Background/Objectives:
Gastric
adenocarcinoma
and
proximal
polyposis
of
the
stomach
(GAPPS)
is
a
recently
discovered
autosomal
dominant
transmission
disease.
Patients
with
this
condition
have
higher
risk
developing
gastric
cancer.
There
are
numerous
questions
regarding
natural
history
condition,
as
well
concerning
diagnostic
therapeutic
management
these
patients.
In
systematic
review,
we
aimed
to
examine
current
literature
determine
role
prophylactic
gastrectomy
in
patients
diagnosed
stomach.
Additional
outcomes
Helicobacter
pylori
(HP)
infection,
treatment
proton
pump
inhibitors
(PPI),
colonoscopic
examination
abdominal
imaging
examination,
they
important
factors
decision.
Methods:
We
performed
review
articles
published
PubMed
Google
Scholar,
according
PRISMA
2020
criteria.
Results:
obtained
24
studies
that
included
83
GAPPS,
which
42
underwent
gastrectomy,
benefited
from
endoscopic
follow-up,
17
were
cancer
at
first
gastroscopic
examination.
specimens,
malignant
disease
was
confirmed
10%
cases.
GAPPS
has
been
more
frequently
women.
Conclusions:
So
far,
specialized
includes
limited
number
GAPPS.
also
no
guidelines
yet
for
diagnosis
Prophylactic
or
surveillance
only
options
without
initial
For
robotic
laparoscopic
approach
preferred.
establishing
appropriate
lymphadenectomy
future
research
on
specimens
necessary.
Most
deficient
terms
postoperative
follow-up
Thus,
consider
it
useful
include
single
database.
comprehensive
making
an
decision,
necessary
perform
evaluation,
take
imaging,
infection
status.
Язык: Английский
Enhancing Breast Cancer Risk Prediction with Machine Learning: Integrating BMI, Smoking Habits, Hormonal Dynamics, and BRCA Gene Mutations—A Game-Changer Compared to Traditional Statistical Models?
Applied Sciences,
Год журнала:
2024,
Номер
14(18), С. 8474 - 8474
Опубликована: Сен. 20, 2024
The
association
between
genetics
and
lifestyle
factors
is
crucial
when
determining
breast
cancer
susceptibility,
a
leading
cause
of
deaths
globally.
This
research
aimed
to
compare
the
body
mass
index,
smoking
behavior,
hormonal
influences,
BRCA
gene
mutations
affected
patients
healthy
individuals,
all
with
family
history
cancer.
All
these
were
then
utilized
as
features
train
machine
learning
(ML)
model
predict
risk
development.
Between
2020
2023,
total
1389
women
provided
detailed
factor
data
during
visits
familial
center
in
Italy.
Descriptive
inferential
statistics
assessed
explore
differences
groups.
Among
various
classifiers
used,
ensemble
decision
trees
was
best
performer,
10-fold
cross-validation
scheme
for
training
after
normalizing
features.
performance
evaluated
using
receiver
operating
characteristic
(ROC)
curve
its
area
under
(AUC),
alongside
accuracy,
sensitivity,
specificity,
precision,
F1
score.
Analysis
revealed
that
individuals
tumor
group
exhibited
higher
profile
compared
their
counterparts,
particularly
terms
genetic
markers.
ML
demonstrated
predictive
power,
an
AUC
81%,
88%
57%
78%
80%
score
0.84.
These
metrics
significantly
outperformed
traditional
statistical
prediction
models,
including
BOADICEA
BCRAT,
which
showed
below
0.65.
study
efficacy
approach
identifying
at
cancer,
leveraging
factors,
improved
over
methods.
Язык: Английский
Knowledge and Misinformation about Breast cancer risk factors, symptoms, and prevention among healthy and affected women: a study on 2,375 Italian participants
Опубликована: Авг. 27, 2024
Background:
Breast
cancer
is
the
most
common
among
women
worldwide
and
remains
leading
cause
of
death
Italian
women.
Despite
increased
breast
awareness
improved
diagnostic
techniques,
mortality
rates
high
globally.
In
Italy,
despite
availability
screening
programs
by
National
Health
System
(NHS)
for
all
aged
50-69
every
two
years,
participation
rate
relatively
low.
The
low
uptake
may
be
attributed
to
a
lack
general
knowledge
women,
including
risk
factors,
symptoms,
prevention
measures.
This
study
investigates
misinformation
in
population
regarding
prevention.
Methods:
From
March
2021
January
2022,
we
conducted
survey
targeting
female
with
total
2375
participants
willingly
participating
study.
To
investigate
factors
linked
variations
attitudes
toward
cancer,
were
categorized
into
groups:
(Group
A,
n=2235)
who
have
had
or
currently
B,
n=140).
Statistically
significant
differences
identified
between
these
groups.
Results:
findings
revealed
considerable
confusion
both
symptoms
causes
associated
as
well
was
particularly
prominent
those
lower
levels
education.
Conclusions:
Given
insights,
it
crucial
promote
accurate
health
information
concerning
strategies
related
this
devastating
disease,
emphasizing
ongoing
importance
disseminating
correct
information.
Язык: Английский
Knowledge and Misinformation About Breast Cancer Risk Factors, Symptoms, and Prevention Among Healthy and Affected Women: A Study on 2375 Italian Participants
Healthcare,
Год журнала:
2024,
Номер
12(21), С. 2126 - 2126
Опубликована: Окт. 24, 2024
Breast
cancer
is
the
most
common
among
women
worldwide
and
remains
leading
cause
of
death
Italian
women.
Despite
increased
breast
awareness
improved
diagnostic
techniques,
mortality
rates
remain
high
globally.
In
Italy,
despite
availability
screening
programs
by
National
Health
System
(NHS)
for
all
aged
50-69
every
two
years,
participation
rate
relatively
low.
The
low
uptake
may
be
attributed
to
a
lack
general
knowledge
women,
including
risk
factors,
symptoms,
prevention
measures.
This
study
investigates
misinformation
in
population
regarding
prevention.
Язык: Английский