Assignment prior to class:
Review the following web site - Advocating for Folic Acid: A Guide for Health Professionals (www.folicacid.net)
Read: (Remember to access journals through the TML Ejournal web-page )
Breast Cancer Mythology on
Long Island (August 31, 2001) New York Times, Section:
A; Pg. 14 (NYTimes.com Read
Sung et al (March 12, 2003) Central Challenges Facing
the National Clinical Research Enterprise. JAMA 289:1278-1287
The Role of Genetics in the Provision of Essential
Public Health Services: Wing G. & Watts C. AJPH April 2007, V94 #4
Scan the following:
Home Test Kit causes controversy
Can Family History be Useful?
Marfan's Syndrome (June 08)
Flour Fortification with Folic Acid
Genomics & Primary Care (Also applicable to the session on aging.)
The Genie is out (Editorial from NEJM, Jan. 2008)
Pharmacogenomics — Ready for Prime Time? (Editorial NEJM Mar 2008)
Supplements Containing Folic Acid (CDC 2007)
Objectives:
Upon completion of this session the students should be able to:
- describe the role of Genetics for Public Health policy and programs
- describe the public health pyramid with regard to genetic information and services
- describe genetic components of health and disease
- describe the relation of genetics and mental retardation
- describe the potential impact of genetic research on community health and preventive medicine
Key Words
- Autosomal dominant– genes that exhibit their effects when only one altered copy is present (e.g. neurofibromatosis, Huntington disease, many cancer susceptibility genes like RCA1/2)
- Autosomal recessive-- genes that exhibit their effects when two altered copies are present (e.g. sickle cell anemia, cystic fibrosis
- Birth defect – any morphological abnormality present at birth (e.g. cleft palate, neural tube defect)
- Cancer cluster – a greater-than-expected number of cancer cases that occurs within a group of people in a geographic area over a period of time
- Congenital anomaly -
a defect that is present at birth (considered
synonymous to “birth defect”)
Folate – a vitamin that plays a vital role in DNA metabolism - Genetic susceptibility – a
tendency to a disease or health alteration based
on genetic changes
Human Genome Project- the 13-year (1990-1993) federal project to map the total human DNA sequence of ~30,000 genes - Multifactorial – caused by a combination of genetic and environmental factors
- Polymorphism – DNA variation that is not yet known to have clinical significance
- Children with special health care needs – includes all children who have or are at risk for chronic physical, developmental, behavioral, or emotional conditions and who also require health and related services of a type or amount beyond that required by children generally. It is estimated that 18 million children in the United States have these special health care needs (Maternal and Child Health Bureau)
- Teratogen – any agent that increases the incidence of congenital malformations (e.g. thalidomide, accutane)
Concepts:
- It is estimated that influences on health and disease are 40% behavioral, 30% genetic, 20% environmental, and 10% health care.
- The human body contains ~30,000 genes typically packaged for cell division in 46 chromosomes.
- Genes help determine our responsiveness to environmental changes. Genes also interact with one another. Differing genes, polymorphisms, and genetic susceptibilities show varied responses and interactions.
- The causes of birth defects include chromosomal alterations, Mendelian conditions, teratogens, and multifactorial conditions.
- 3-4% of children are born with a birth defect.
- 239,900 children in Virginia are estimated to have a special health care need.
- The Centers for Disease Control (CDC) recommends that all women who may become pregnant take 0.4 mg. of folic acid daily at least one month prior to conception.
- Many mental retardation problems may be avoided by the study of genetics.
- Family history is increasingly being valued as a public health tool to screen for common diseases.
- “We are all diseased, just not diagnosed yet.” Francis Collins, Director, National Institute for Human Genome Research