The expanding global genomics landscape: Converging priorities from national genomics programs
Caitlin Howley,
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Matilda Haas,
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Wadha A. Al Muftah
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et al.
The American Journal of Human Genetics,
Journal Year:
2025,
Volume and Issue:
unknown
Published: March 1, 2025
SummaryThe
global
landscape
of
health
genomics
is
expanding
rapidly,
with
an
increasing
number
national
and
international
initiatives,
many
which
are
targeted
toward
accelerating
the
clinical
implementation
genomic
technologies
services
in
context
local
systems.
This
includes
a
range
entities
different
levels
maturity,
funding
sources,
strategies
that
focus
on
research
priorities
to
varying
degrees.
While
there
no
"one-size-fits-all"
approach,
analysis
programs
helps
identify
common
priority
areas,
barriers,
enablers.
Here,
we
synthesize
converging
several
highlight
importance
progressing
scale.Graphical
abstract
Language: Английский
Opportunities and Challenges of Population Pharmacogenomics
Annals of Human Genetics,
Journal Year:
2025,
Volume and Issue:
unknown
Published: April 2, 2025
Pharmacological
responses
can
vary
significantly
among
patients
from
different
ethnogeographic
backgrounds.
This
variability
can,
at
least
in
part,
be
attributed
to
population-specific
genetic
patterns
genes
involved
drug
absorption,
distribution,
metabolism,
and
excretion,
as
well
associated
with
drug-induced
toxicity.
Identification
of
such
is
thus
crucial
for
the
optimization
precise
treatments.
In
this
review,
we
summarize
current
knowledge
about
clinically
actionable
pharmacogenetic
diversity
metabolism
(CYP2B6,
CYP2C8,
CYP2C9,
CYP2C19,
CYP2D6,
CYP3A5,
DPYD,
TPMT,
NUDT15,
UGT1A1,
NAT2),
hypersensitivity
reactions
(HLA-A
HLA-B),
acute
hemolytic
anemia
(G6PD).
We
highlight
risk
populations
distinct
allele
frequencies
discuss
implications
customization
treatment.
Subsequently,
key
challenges
opportunities
population
pharmacogenomics,
including
importance
considering
frequency
indigenous
or
founder
populations,
interpreting
pharmacogenomic
response
admixed
addressing
investigation
bias
literature,
difficulties
rare
variants
into
predictions.
The
information
provided
here
underscores
critical
role
pharmacogenomics
refining
pharmacological
treatment
strategies
aspires
provide
further
guidance
maximize
benefits
precision
medicine
across
populations.
Language: Английский
Status of the implementation of pharmacogenetics in clinical practice in Spain: from regional to national initiatives
Drug Metabolism and Personalized Therapy,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Nov. 11, 2024
Pharmacogenetics
(PGx)
has
the
potential
to
improve
patient
care,
allowing
transform
medical
interventions
by
providing
personalized
therapeutic
strategies.
Scientific
evidence
supports
use
of
PGx
in
clinical
practice
and
international
organizations
are
developing
guidelines
facilitate
utilization
testing.
However,
implementation
is
limited
unequal
worldwide.
Language: Английский
Cost-effectiveness analysis of genotype-guided optimization of major depression treatment in Qatar
Journal of Pharmaceutical Policy and Practice,
Journal Year:
2024,
Volume and Issue:
17(1)
Published: Oct. 25, 2024
Background
Pharmacogenetic
testing
improves
the
efficacy
and
safety
of
antidepressant
pharmacotherapy
for
moderate-severe
major
depressive
disorder
by
identifying
genetic
variations
that
influence
medication
metabolism,
adjusting
treatment
regimens
accordingly.
This
study
aims
to
assess
cost-effectiveness
implementing
a
pharmacogenetic
approach
guide
prescription
antidepressants.
Language: Английский