This
lass on genetics and public health
usse a case-based approach to introduce you to contemporary issues at the intersection
of public health and genetics. Our
overall goal is to encourage you to recognize
the genetic aspect of public health problems. Just
as learning about infectious organisms two
centuries ago altered public health practices,
from sanitation to immunizations, new knowledge
and technologies in genetics are altering
and will continue to impact public health
practices. Genetic information influences
health and disease across the lifespan, from preconceptional genetic
counseling and fortification of flours with folate to
improvements in our understanding of causes
of death and disability, from newborn hearing
screening where over half of congenital hearing
loss is genetic to recognition of the familial
risk factors inherent in, for example, Alzheimer
disease, cancer, coronary artery disease
and stroke.
Pedigree
Documenting Family Health History

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An
ongoing challenge for public health personnel
is to incorporate current understanding of
the science of health and disease in effective
and ethical public health measures. Your
own understanding of the relevance of the
genetic components of your family health
history to your own health and your willingness
to think about these complex issues for society
and public health are both part of your legacy. Think
genetically.
Genetic
Material (DNA), Packaged as Chromosomes,
Encodes Proteins and Cellular Materials
that Influence How Cells Grow and Develop.  |
The
National Coalition for Health Professional
Education in Genetics (www.nchpeg.org), a
coalition of more than 120 health professional
organizations, and the CDC (http://www.CDC.gov/genomics/training/competencies/default.html) have developed a set of competencies in genetics for health
professionals and for the public health workforce. Review
these competencies and continue to reflect
upon them as you go through your MPH program. The
following have been identified as public
health functions relevant to genetics: public
health assessment; evaluation of genetic
testing; development, implementation, and
evaluation of population interventions; and
communication and information dissemination. Critical
issues include: partnerships and coordination;
ethical, legal and social issues; and education
and training. Genetics and Public Health
in the 21st Century (Muin Khoury,
Wylie Burke, Elizabeth J Thomson (eds.),
New York, Oxford University Press, 2000)
is a comprehensive monograph about using
genetic information to improve health and
human disease. The following web sites
may be useful for your further study. Alliance
of Genetic Support Groups (former name),
now Genetic Alliance www.geneticalliance.org GeneReviews, GeneTests, GeneClinics www.geneclinics.org Information
for genetic professionals and on genetic
conditions www.kumc.edu/gec March
of Dimes www.modimes.org National
Human Genome Research Institute www.nhgri.nih.gov National
Coalition for Health Professional Education
in Genetics www.nchpeg.org Office
of Genetics and Disease Prevention www.cdc.gov/genetics.default.htm OMIM,
Online Mendelian Inheritance in Man www.ncbi.nlm.nih.gov Birth defects: Case 1 - Your sister has just found
out at 16 weeks of pregnancy that she has
a fetus with spina bifida. Describe
the levels of the maternal child health pyramid
that impact how this is handled. The
lecture (see Birth defects and the maternal
child health pyramid.ppt) will challenge
you to consider how the management and prevention
of birth defects with a genetic component
requires the interplay and cooperation of
the various levels of public health service.
You are encouraged to review the following
websites related to birth defects and folic
acid and keep the following questions in
mind. Birth defects: 1) National Center for Birth Defects and Developmental
Disabilities www.cdc.gov/ncbddd/bddefault.htm 2) National Birth Defect Prevention Network www.nbdpn.org Folic Acid: 1) Advocating for Folic Acid: A Guide for Health
Professionals www.folicacid.net 2) National Council on Folic Acid www.folicacidinfo.org/about_us.php Maternal Child Health Pyramid: MCH Bureau Definitions
of Core Public Health Services and Key Words www.tdh.state.tx.us/mch/defs.htm
- What
are the needs of individuals with birth defects?
- How
do direct health care services help to meet
these needs?
- How
do enabling services help to meet these needs?
- How
do population-based services help to meet
these needs?
- How
does the public health infrastructure help
to meet these needs?
Lecture - Birth
defects and the maternal child health pyramid Cancer: Case 2 - Your next-door neighbor tells
you that 2 of her 4 daughters have recently been
diagnosed with breast cancer. You
all grew up together and are worried about the "cancer
street." Describe how public health and genetic
help you address risk assessment. With
the completion of the Human Genome Project
inherited risk factors are increasingly being
identified as contributors to common chronic
diseases. As clinical testing strives
to keep up with research advances in genetics,
public health officials are recognizing the
value of family history as an important screening
tool. In this part of the lecture (see
The Genetic Component of a Common Disease.ppt)
we use the example of cancer and cancer clusters
as a paradigm for the inherited genetic contribution
to common diseases, and we discuss the incorporation
of genetic information into public health
investigations of these diseases. After
exploring these websites think about possible
answers to the following questions: CDC National Center
for Environmental Health (Cancer Clusters) http://www.nchpeg.org/ Mid-Atlantic Cancer Genetics Network www.macgn.org Office of Genomics and Disease Prevention at the CDC http://www.cdc.gov/genomics/ National Cancer Institute www.cancer.gov Virginia Department
of Health (Cancer Registry) http://www.vdh.state.va.us/epi/cancer/index.asp
- Why is it important for a public health official
to know about family health histories?
- What are potential barriers that limit what public
health investigators can learn about
family health histories?
- How is genetic susceptibility screening different
than traditional public health screening
tests like tuberculosis screening or
smallpox screening with respect to:
- Disease symptoms (present/absent)
- Insurance, employment discrimination
- Who else is at risk?
Lecture - The
Genetic Component of a Common Disease Health manpower: Case 3 - You are a health planner
and suddenly learn that there are no nutritionists
in the state who have training in handling infants
who are diagnosed on newborn screen with metabolic
disease. Describe how you would address
this need. The
lecture (see Health manpower and newborn
screening.ppt) will take you through one
public health geneticist's approach to this
question. You are strongly encouraged
to choose one of the seven current (sickle
cell and hemoglobinopathies, phenylketonuria (PKU),
maple syrup urine disease (MSUD), homocystinuria,
hypothyroidism, biotinidase deficiency,
congenital adrenal hyperplasia (CAH)) or
future medium chain acyldehydrogenase (MCAD)
conditions screened for in Virginia at birth
and review the following websites to answer
the following questions. www.aap.org (Pediatrics 2000 Aug; 10692 pt 2)389-422. Screening the family from birth to the medical home. Newborn
screening: a blueprint for the future - a
call for a national agenda on state newborn
screening programs) http://genes-r-us.uthscsa.edu (National
Newborn Screening and Genetics Resource Center,
2000 National NBS report) www.geneticalliance.org (national
coalition of genetic support groups, useful
for getting information on a particular genetic
condition by going to the particular condition's
support group's web page) www.marchofdimes.com (look
for information sheets for parents)
- Why is the condition screened for at birth?
- How many children on average are born annually
with this condition in Virginia and in
the United States?
- How is the condition treated?
- What are the issues involved in informed consent/dissent
for newborn screening?
- What needs to be in place for an effective newborn
screening and follow-up system for this
condition in Virginia?
Lecture - Health
manpower and newborn screening |