Quiz 1 practice Flashcards
(42 cards)
newborn screening
provide screening to all newborns for metabolic, endocrine, hematologic, and other disorders, state-run program and most successful program of public health genetics
why is newborn screening a state power?
the 10th amendment includes “police powers” of health, education, and welfare
impact of newborn screening state run
states can test for different conditions, have different fees and payment methods
start of newborn screening
1960’s - Robert Guthrie considered father of newborn screening and created test for PKU, developed system for transporting newborn samples on filter paper
first state law of newborn screening
1960s- Massachusetts was first state to require newborn screening
last state establishes NBS program
1985
RUSP developed with 29 conditions
2000s
what year was newborn screening saves lives act
2008
Wilson Junger criteria for newborn screening
treatable illness- recognizable/case definitions
detectable in newborn period
pre-symptomatic initiation of treatment
available resources for diagnosis/treatment/follow up
evidence of substantial public acceptance and benefit
suitable and simple test methods
acceptable costs
components of newborn screening
management: treatment long-term follow up specimen storage
screening: sample collection sample submission laboratory testing
diagnosis: subspecialist assessment results shared with family counseling if necessary
follow up: obtain test results and get results to family repeat tests if needed
evaluation: quality assurance outcome evaluation, cost effectiveness
heel stick test
newborn screening sample taken via heel stick
- completed by trained provider
- typically collected 24-48 hours after birth
- all circles on filter paper card should be filled
- samples sent to lab and arrive within 24hrs of collection
components of newborn screening
heel stick test, pulse oximetry (congenital heart conditions) , hearing test
how are newborn screening results reported?
each state has its own protocol, all NBS tests should be completed within 7 days of life, a follow up is required if diagnostic testing is needed
ACHDNC
advisory committee on heritable disorders in newborns and children
- evaluates and seeks approval for conditions to be added to RUSP
RUSP
the recommended uniform screening panel
- includes 38 core and 26 secondary conditions
cost of newborn screening
free to $200+
- can be paid for by insurance or hospital
- affordable care act requires most health plans to cover newborn screening for conditions in RUSP
global newborn screening
many countries do not have NBS programs
- 11/12 southern Europe countries had programs with 18 being the highest rate of conditions tested
phenylketonuria (PKU)
1/13,000 rate in US
- MS/MS used for identifying PAH deficiency
- without treatment: epilepsy, intellectual disability, Parkinsons like features,
with treatment: low protein diet, Phe-free medical formula, medications for life
public health
science of protecting and improving the health of people and their communities
three public health core functions
assessment, policy development, assurance
assessment
assess and monitor population health, investigate, diagnosis and address health hazards
policy development
inform and educate, mobilize communities and partnerships, implement projects and laws, utilize legal actions
assurance
equitable access, skilled workforce, research and quality development, strong organizational infrastructure
public health genetics
applies genetic and genomic information to improve public health and prevent disease
