Genetic Testing
Genetic testing is a type of medical laboratory test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.
More than 2,000 genetic tests are currently in use, and more are being developed.
Several methods can be used for genetic testing:
- Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
- Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.
Different types of genetic tests include:
- Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage the patient’s health.
- Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person’s likelihood of developing diseases. The results of these tests provide information about a patient’s risk of developing a specific disease. Such information may be useful in decisions about lifestyle and healthcare.
- Companion diagnostics are in vitro diagnostic devices or imaging tools that provide information essential for the safe and effective use of a corresponding therapeutic product for a specific individual, based on his or her DNA.
- Carrier testing is used to find people who “carry” a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur.
- Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.
- Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.
- Pharmacogenomic testing gives information about how certain medicines are processed by an individual’s body. This type of testing can help healthcare providers choose medicines that work best with a patient’s genetic makeup.
- Research genetic testing is used to learn more about the contributions of genes to health and to disease. Sometimes the results may not be directly helpful to participants, but they may benefit others by helping researchers expand their understanding of the human body, health, and disease.
Advancing research into the human genome and ongoing interest in personalized medicine are both driving an increasing volume of genetic testing for clinical laboratories.
Exome Sequencing Next “Big Thing” for Diagnosis
CEO SUMMARY: For disease diagnostics, exome sequencing is not yet routine, but geneticists are getting close. Using this technology, researchers read those parts of the human genome where about 85% of disease-causing mutations reside. By looking only at the regions that encode proteins—…
Roche Offers $5.7 Billion To Acquire Illumina Inc.
CEO SUMMARY: Once again, Roche is hunting for gene sequencing and gene analysis technology that can support its goal of being a world leader in gene-based therapeutics and clinical lab testing that utilizes gene tests and molecular diagnostics. Last week, Roche launched a hostile stock te…
Myriad Wins Federal Appeal In Important Gene Patent Suit
IN THE CLOSELY-WATCHED COURT CHALLENGE involving gene patents, Myriad Genetics, Inc., of Salt Lake City, Utah, recently won a favorable decision from the federal appeals court. However, legal experts believe that the plaintiffs are likely to ask the Supreme Court to review the case. …
Whole Genome Sequencing: Is It Ready for Prime Time?
CEO Summary: Pathologists at Beth Israel Deaconess Medical Center in Boston, Massachusetts, in a collaboration with GenomeQuest, Inc., will produce whole human genome sequences of patient tumors and other specimens. These whole genome sequences will be studied to learn what diagn…
Lab Industry Unprepared For FDA Action on LDTs
CEO SUMMARY: News stories about the FDA’s stated intention to regulate laboratory-developed tests (LDTs) generally play up the agency’s comments about the need to assert regulatory oversight of genetic tests and direct consumer access testing. But what has gone unremarked by …
Many Questions About FDA Regulation of LDTs
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Systems Approach For Pre-Authorization Of Genetic Tests
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Payers Move to Pre-Authorize Expensive Genetic Tests
CEO Summary: Pre-authorization of expensive genetic and molecular tests is fast-becoming a priority for most of the nation’s health insurers. For clinical labs and pathology groups that don’t respond, this trend is a threat. On the other hand, because payers need all the skil…
Genetic Testing Genie Is Now Out of the Bottle
CEO SUMMARY: There’s been an uneasy standoff between companies that want to sell genetic tests directly to consumers over the Internet and both state and federal regulators. But now it appears that the FDA is ready to take off the gloves and assert greater control over genetic …
Physicians in Survey Recognize Lack of Genetic Test Knowledge
MOST PHYSICIANS BELIEVE they are inadequately informed about pharmacogenomics (PGx) and how to utilize genetic tests. That’s the finding of a survey of 10,303 physicians and reveals an opportunity for pathologists and clinical lab professionals to fill an unmet need. In fact, only 10% of the 10,30…
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Volume XXXII, No. 6 – April 21, 2025
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