Definition -Genetic testing. "the analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes."
"the analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes."
Holtzman NA, Watson MS, eds. Promoting safe and effective genetic testing in the United States: final report of the Task Force on Genetic Testing. Baltimore: Johns Hopkins University Press, 1999.
diagnosisof genetic disease in newborns, children, and adults
identificationof future health risks
prediction of drug responses
assessment of risks to future children
Should genetic testing be required for jobs or parenthood?
“The majority of potters do not die of bronchitis. It is quite possible that if we
really understood the causation of this disease we should find out that only a
fraction of potters are of a constitution which renders them liable to it. If so,
we could eliminate potters’ bronchitis by regulating entrants into the potters’
industry who are congenitally disposed to it.”
G6PD deficient might also develop anemia under oxidant stresses from a variety of chemical exposures suchas aromatic nitro and amino compounds, metal hydrides, and dyes.
In 1963, Herbert Stokinger and John Mountain were among the first to propose the use of genetic testing for G6PD deficiency to eliminate susceptible individuals from work with such chemicals
Applications in the workplace …
In 1978, DuPont testing of African Americans for sickle cell trait
and restricting individuals from work with nitro and amino compounds
Similarly, in the 1970s, the Air Force excluded African Americans with
sickle cell trait from Academy admission and flight training because of presumed risk in hypoxic atmospheres
At the same time, the Dow Chemical Company engaged in
experimental studies of cytogenetic abnormalities, using them as
genetic markers of acquired susceptibility for presumed future risk of
cancer and reproductive problems among workers exposed to benzene
and epichlorohydrin, although the information was not used
in making employment decisions
classified according to their purpose
- to identify individuals who are at risk of developing a specific disorder. Screening is done so that further testing can be undertaken.
- to determine if an individual is a "carrier" of a gene for a recessive genetic disorder.
Ex. couples undergo carrier testing for disorders such as Tay-Sachs disease, to assist in their reproductive decisions.
- to determine whether a fetus is affected by, or at risk for a genetic disorder before birth.
Ex. Down's Syndrome
- focus on the identification of metabolic disorders in newborns. Early detection and treatment may be crucial to reduce the progression of such diseases.
Ex. phenylketonuria (PKU). --Dietary intervention allows individuals with this condition to lead healthy and productive lives.
- conducted on healthy individuals to determine whether or not they carry a genetic mutation that increases their likelihood of developing late-onset diseases and disorders.
Ex. Huntington's disease and Alzheimer's disease.
- to identify individuals with genetic mutations that make them more susceptible to developing a disease when exposed to certain environmental elements.
- often used to identify workers who may be susceptible to toxic substances that are found in their workplace which may cause disabilities.
- to confirm a diagnosis already made by other methods.
Ex. to confirm the diagnosis of certain forms of cystic fibrosis (CF).
- to discover genetic linkages in criminal investigations between suspects and evidence or between children and their biological parents.
Mapping of the human genome completed
Identify all the approximately 20,000-25,000 genes in human DNA,
N=550 company CEOs (65.2% response)
19 companies (5%) had or was using genetic testing
sickle cell trait, 5 for G6PD deficiency, 5 for alpha-1-antitrypsin deficiency, 2 for NADH hydrogenase deficiency, 3 for liver enzymes, and 5 for immune markers.
Reason “Avoid lawsuits”
Al Gore (then chair of house subcommittee):
“potential to serve as a marvelous tool to protect the health of workers or a terrible vehicle for invidious discrimination”
There is no valid justification for employers to perform mandatory DNA testing on their employees.
-Although legal protections for health and genetic information confidentiality exist on both the federal and state levels, they are often limited in scope and do not provide adequate safeguards.
Accuracy, reliability of the test
possibility for laboratory errors
-sample misidentification, contamination of the chemicals used for testing, or other factors
Difficulties in interpreting a positive result
The psychological burden of being informed that one will develop a debilitating, fatal disease, such as Huntington's Disease, for which there is no cure, could be devastating.
Anxiety about false positive results =>Created fear and anxiety could affect a person’s performance
harm that can be caused to the parent-child relationship by parental misperceptions about the meaning of a child's carrier status and the possibility that children will be subjected to needless, and potentially risky, medical interventions or monitoring.
Employers have an obligation to provide a safe workplace, which should translate to removing the causes of occupational illness, rather than the victims.
Violation of an individual's right to privacy.
Quality of life
“Our culture does not reflect the ways in which people with disabilities experience and value our bodies and our lives,… I understand that it may be difficult for able-bodied people— particularly those in the health professions— to believe that disability may be experienced as different, not less.”
by DeRogatis, a nurse who speaks her own disability.
from textbook by Maicna p.251
People with positive test results would be treated differently because of real or perceived genetic difference.
Employee with genetic defects would be treated as “risk” groups
Mcdonald & Williams-Jones, Journal of business ethics35: 235-241 2002
his occupation: pilot
his employer :TransCoastal Airlines.
Sue : an 19-year-old college student.
-responds to an ad in the local paper and volunteers to donate a blood sample to a company setting up a genetic database.
-on her follow-up visit, learns that she carries the gene for Huntington's Disease.
-realizes that one of her parents must also express the Huntington's gene and that they will most likely become symptomatic in the next ten years.
-notes that all of her grandparents, both maternal and paternal, have entered their 60s without symptoms.
-realizes that one of her grandparents may have had the gene, but never expressed the phenotypic disease.
5 to have more children.. When Sue begins applying for jobs, does she have to enter this information into her medical history? What are potential repercussions if she does/does not offer this information?
This is not genetic testing exactly, but illustrative
Hepatitis C infected individual sued Chevron Oil Company for denial of employment
Company argued hepatotoxic chemical exposure in the coke oven job exposed threat to his own heath.
The Supreme Court, in interpreting the ADA job qualification standard that “an individual shall not pose a direct threat to the health and safety of other individuals in the workplace,” allowed Chevron’s proposed extension of this to include the worker himself.
GENETIC TESTING IN THEWORKPLACE: Ethical,
Legal, and Social Implications Annu. Rev. Public Health 2004. 25:139–53