GENOMIC TESTS PROVIDED
SUSCEPTIBILITY GENE TESTING
– Genetic Susceptibility for Disease (Newborn – Adults)
DNA test of susceptibility genes for variations associated with increased risk of disease.
– Genetic Susceptibility for Adverse Drug Reactions (Newborn – Adults)
DNA test of drug metabolizing genes for variations associated with increased risk of Adverse Drug Reactions (ADRs).
DESCRIPTIONS
– Genetic Susceptibility for Disease (Newborn – Adults)
The limitations of existing treatments for common diseases such as heart disease, diabetes, and cancer has led to genetic tests to identify individuals at increased risk of developing disease. Genetic tests assess susceptibility genes for SNPs, common genetic mutations, associated with increased risk of disease.
Researchers in the Department of Human Genetics, UCLA School of Medicine conclude, “If performed early enough, identification of these mutations (SNPs) by molecular genetic testing can be used not merely to diagnose disease but to predict risk (genetic susceptibility) of future disease.”
Reference: Annual Review of Medicine. 2003;54:473-90. Grody WW
A growing range of therapeutic interventions are being developed that compensate for the effects of SNPs and reduce the risk of disease.
– Genetic Susceptibility for Adverse Drug Reactions (Newborn – Adults)
PharmacoGenomics is the genetic basis of variable drug responses among individuals. PharmacoGenomics includes DNA testing for mutations in drug metabolizing genes. These mutations often increase the risk of Adverse Drug Reactions (ADRs) to drugs used as approved by the FDA.
Adverse reactions to prescription drugs have been cited as the fourth leading cause of death in the U.S. ADRs are responsible for more than 2 million hospitalizations and 100 thousand deaths annually, at a cost of $100 billion to the U.S. healthcare system.
Reference:Journal of American Medical Association. 1998;297(15):1200-5.
Individuals at risk of developing ADRs as a result of genetically-determined variations in drug metabolizing enzymes can now be identified using DNA-based tests. Knowing an individual’s pharmacogenetic variations provides critical information that can help in the selection of type and dose of medication.
Reference: British Medical Bulletin. 1999;55(2):366-386. Wolf CR
“Genetic tests will help improve drug safety and efficacy by better matching patients and drugs.”
Reference: Advances in Genetics. 2003;50:399-426. Meurer MJ
GENOMIC TESTS NOT PROVIDED
SINGLE-GENE DISEASE TESTING
GenomeConsultation.com does not provide genomic testing for inherited disorders such as cystic fibrosis and Huntington’s disease. These disorders are known as single-gene diseases because they are caused by variations in only one gene. If you think you are at risk for an inherited disease, you should consult with your health care provider.
– Pre-Symptomatic Single Gene Testing
Genetic tests before symptoms appear to identify adult-onset genetic disorders such as Huntington’s disease, a neurodegenerative disorder.
– Symptomatic Single Gene Testing
Genetic tests to establish an accurate diagnosis of a symptomatic individual, such as hereditary hemochromatosis (HFE), a disorder of iron overload.
NEWBORN SCREENING (Newborns)
The U.S. National Screening Status Report lists the requirements of newborn genetic screening for each state in the U.S.
Reference: National Newborn Screening & Genetics Resource Center
PRENATAL DIAGNOSTIC TESTING (Fetus)
Fetal genetic tests used to diagnose common genetic diseases such as cystic fibrosis and Down syndrome, as well as less common diseases such as fragile X, a form of mental retardation.
PREIMPLANTATION GENETIC DIAGNOSIS [PGD] (Embryo)
Test that screens for genetic mutations among embryos used in ‘in vitro fertilization.’ With PGD, DNA samples from embryos created in-vitro by the combination of a mother’s egg and a father’s sperm are analyzed for gene abnormalities that can cause disorders. PGD enables the selection of healthy embryos for implantation into the mother’s uterus.
Reference: Oak Ridge National Laboratory,(www.ornl.gov/hgmis)
(Website sponsored by the U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome Program)
CARRIER SCREENING (Future Parents)
Test that identifies unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed. The number of American couples being tested to determine if they are cystic fibrosis carriers has grown from a few thousand in 2000 to several hundred thousand in 2003.
FORENSIC & IDENTITY GENETIC TESTING (Criminal & Paternity)
DNA tests, as scientific evidence, are now used routinely to resolve cases of child support, custody, and criminal justice cases.
Copyright © 2002-2010 GenomeConsultation.com. All rights reserved.
|