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.
Palmetto GBA Issues Guidance On Billing NGS Test Panels
CEO SUMMARY: Across the lab industry, next generation sequencing is taking hold as an effective and efficient testing platform. In response, payers are developing coding and payment policies that may affect the finances of clinical labs. Last month, Palmetto GBA, a Medicare contractor, is…
New Company Tracks Details and Prices For 60,000 Molecular and Genetic Tests
CEO SUMMARY: Advances in the speed, accuracy, and cost of next-generation gene sequencing making it possible for clinical labs to create thousands of new tests. How many new tests? NextGxDx, an information technology company, says the nation’s clinical laboratories are introducing new m…
Hit by Many New Genetic Tests, Health Insurers Just Say ‘No’
OVERWHELMED WITH REQUESTS TO PAY for new genetic tests, health insurers, particularly smaller and regional insurers, find it easier to simply deny payment for such tests. This is one of the insights shared during a panel discussion involving several managed care executives at the 20th annual Exe…
Medicare Ends Coverage for Genetic Drug-Sensitivity Tests
CEO SUMMARY: Medicare’s decision to cease covering many pharmacogenomic tests puts as many as 19 million Americans who have genetic variations affecting their response to medications at risk. These medications are commonly prescribed for patients with cardiovascular disease, pain…
Increasing Costs for Genetic Tests Are Busting Lab Budgets
CEO SUMMARY: Across the nation, hospital administrators are recognizing that effective lab test utilization is a critical factor in a lab’s success. At Seattle Children’s Hospital, clinical pathologists, clinical chemists, and laboratory genetic counselors are …
More Genetic Counseling Leads to Fewer Lab Tests
CEO SUMMARY: Cigna was the first national health insurer to require independent board-certified genetic counseling before approving coverage for certain genetic tests. Since launching this program in September 2013, the insurer has seen a 450% increase in genetic counseling for Cigna …
Whole Genome Sequencing Is Poised for Clinical Use
CEO SUMMARY: Pathologists and clinical lab managers interested in following the advances in use of whole human genome sequencing for clinical purposes should follow the money. Within weeks of obtaining FDA clearance for its MiSeqDx system and reagents, Illumina had inked major agreements …
Genetic Testing Creates New Legal Risks for Labs
CEO SUMMARY: Last month, in Seattle, Washington, a jury ordered Laboratory Corporation of America and Valley Medical Center each to pay $25 million following a lawsuit about a ‘wrongful’ birth. At issue was how genetic tests were ordered, performed, and reported. This court case is th…
Hospital and LabCorp Hit with $50 Million Verdict
LAWYERS CALL IT A ‘WRONGFUL BIRTH.’ When no one spots an error in prenatal genetic testing processes, a wrongful birth can result, and that’s what happened in a case that ended last month with a jury award of $50 million to a family in Burien, Washington. Defendants Valley Medical Cent…
Cigna Program Addresses Genetic Test Utilization
CEO SUMMARY: Cigna launched a program that requires genetic counseling for patients and pre-authorization of genetic tests. Its partner is InformedDNA, a firm that provides genetic counseling services. The goals include better patient engagement, improved test utilization…
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