Quiz 1 practice Flashcards
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
eugenics
scientifically erroneous and immoral theory of “racial improvement” and planned breeding popular in early 20th century
eugenics meaning
“well born” coined by francis galton in 1883 promotes human “survival of the fittest” along with darwin
start of eugenics
1860s in london by Galton influences by darwin theory of natural selection
- galton suggested that traits like intellegence, criminal behavior poverty were 100% genetic
goal of eugenics
improve the natural physical mental and temperamental qualities of the human family
eugenics in US
began in 1900s
- started with promotion of reproduction of people with “positive” traits
“defectives” in eugenics
- mentally ill, race, gender, unwed mothers, sexuality, criminality
“better humans” in eugenics
healthy, high IQ, educated, scientists and politicians, men, special talents, religious
positive eugenics
states promoted “filter family” contests to judge family attractiveness
buck v. bell 1927
carrie buck got pregnant at 17 unknown father, committed to center for feeblemindedness because of pregnancy, supreme court decided that state has a right to force a person to be sterilized without consent
eugenics beyond US
eugenics themes from US like forced sterilization, immigration moved to nazi germany
Nuremberg code
1947
Nuremberg world war 2 crime trials following holocaust
- first international code of ethics for human subject research (informed and voluntary consent)
declaration of Helsinki
1964
commitment to consent
- address and communicate risks, research ethics, informed consent
belmont report
1978
protection of human subjects in biomedical science research
- boundaries between practice and research
- basic ethical principles
- applications
declaration of Taipei biobanks and databases
2016
the collection, storage, and use of identifiable data and biological material
public health code of ethics
2002
- what we as a society do to promote conditions in which people can be healthy
public health core values
professionalism and trust
health and safety
health justice and equity
interdependence and solidarity
human rights
inclusivity
4 biomedical principles
respect for autonomy
beneficence
justice
nonmaleficence
