Scientists worldwide collaborated on the Human Genome Project between 1990 and 2003, resulting in the identification of approximately 25,000 human genes and the sequencing of roughly 3 billion DNA pairs. Sequencing the genome has provided medical science valuable information about the human body including heredity, evolution, the genetic basis of illnesses and the ways that drugs affect diseases.
Genetic testing in 2001 was a time-consuming, costly undertaking, as detailed in a March 2014 article in Nature “Technology: The $1,000 genome.” Costs for sequencing the human genome have fallen from about $10 million in 2001 to under $1,000 today. The efforts of the National Human Genome Research Institute to encourage research scientists and institutions to develop cost-effective sequencing platforms has paid off. As more is understood about human genetics, disease and treatment; testing is becoming more specialized and less expensive.
Types of Genetic Testing
According to Genome.gov, today, genetic testing is used by doctors, researchers and other medical professionals for a number of reasons:
- Genetic testing is used to evaluate an individual’s risk of developing and diagnosing a disease.
- Prenatal testing and to screen newborns for particular diseases and disorders.
- Used by forensic scientists for legal identification of an individual and as a way to determine paternity.
Pharmacogenetic testing examines the way genetic variants affect the assimilation to medicines. The testing can help clinicians select medicines that have are more beneficial to the patient and avoid drug reaction. Because pharmacogenetic testing identifies an individual’s genetic variants, testing with Rxight® to tailor drug therapy programs to treat specific diseases such as cancer, AIDS, heart disease and diabetes.
Methods of Testing
There are many DNA testing laboratories that provide an assortment of DNA tests to doctors, pharmacists, other specialists and the public. Early testing, called Sanger DNA sequencing, was a painstaking process that took several weeks to produce results. Depending on the type of test and the quality of the DNA sample, newer methodologies can now deliver highly accurate results in just a few days. The development of microarray technology allows analysis of multiple samples at one time, in contrast to earlier methods that allowed analysis of only one gene at a time, as described in American Laboratory “Multistranded, Alternative, and Helical Transitional DNA and RNA Microarrays: The Next Generation”” (March 2011).
Accuracy and Validity of Testing
The federal government regulates the safety and accuracy of genetic tests. The Clinical Laboratory Improvement Amendments require that laboratories be certified to perform specific types of DNA testing. CLIA is overseen by the Centers for Disease Control. MD Labs, certified by CLIA, uses state-of-the-art testing platforms such as UPLC-MS/MS to provide fast, reliable results for several types of molecular testing.
MD Labs operates Rxight pharmacogenetic testing, which provides information about genetic variants for more than 200 prescription medicines. Testing is simple. DNA samples are extracted from a cheek swab and sent to MD Labs for analysis. Patients receive a Personalized Medication Review that is interpreted by a pharmacist certified in pharmacogenetics. Keeping the report on file allows pharmacists and clinicians to select medications that are compatible with a patient’s genetic characteristics.