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.
Whole Genome Sequencing for Newborns Gains Favor
By Robert Michel | From the Volume XXX, Number 16 – November 13, 2023 Issue
CEO SUMMARY: Evidence is swiftly accumulating that use of rapid Whole Genome Sequencing (rWGS) for certain children in NICUs can enable diagnostic insights that guide effective interventions. Further, these pilot rWGS programs in childrens’ hospitals are showing a solid return on invest…
FDA Issues Proposed Rule to Further Regulate LDTs
By Scott Wallask | From the Volume XXX, No. 14 – October 2, 2023 Issue
CEO SUMMARY: Publication of the FDA’s draft rule on LDT regulation starts the clock on public comment. The proposal seeks to clearly identify laboratory developed tests (LDTs) as in vitro diagnos…
FDA’s Road to Regulation of Lab Developed Tests
By Robert Michel | From the Volume XXX, No. 14 – October 2, 2023 Issue
CEO SUMMARY: Today’s generation of clinical lab managers and pathologists should understand that the FDA’s efforts to publish a draft rule defining its authority to review laboratory developed tests (LD…
How Private Payers Audit Labs for Possible Claims Fraud
By Virchow | From the Volume XXX, No. 14 – October 2, 2023 Issue
EDITOR’S NOT…
UHC Will Delay Enforcement of Z-codes for Genetic Test Claims
By Scott Wallask | From the Volume XXX, No. 13 – September 11, 2023 Issue
IN THE LATEST BACKPEDAL ON ITS NEW POLICY, UNITEDHEALTHCARE (UHC) appears to have dropped its requirement for genetic testing laboratories to use Z-codes for claims under commercial health plans—for now. Earlie…
OIG: Billing Code 81408 Is at ‘Risk of Improper Payment’
By Scott Wallask | From the Volume XXX, No. 11 – July 31, 2023 Issue
CEO SUMMARY: Clinical lab executives familiar with molecular test coding and billing will not be surprised to learn that billing code 81408—commonly used on genetic test claims—is at risk of fra…
With Z-codes, Will Other Payers Follow UnitedHealthcare’s Lead?
By Virchow | From the Volume XXX, No. 11 – July 31, 2023 Issue
EDITOR’S NOT…
Technical Assessment Challenges for Z-Code Applications
By Scott Wallask | From the Volume XXX, No. 10 – July 10, 2023 Issue
CEO SUMMARY: Effective on Aug. 1, UnitedHealthcare will require Z-code submissions for many genetic tests. During a recent webinar, experts tackled a topic that may prove troublesome for labs seeking Z-codes: technical assessments. Key advice is to provide specific data about clin…
UnitedHealthcare’s Z-code Policy Starts on Aug. 1
By Robert Michel | From the Volume XXX, No. 10 – July 10, 2023 Issue
CEO SUMMARY: UnitedHealthcare’s (UHC) response to the ever-growing number of unique genetic tests and the continuing growth in the volume of those claims is a new policy. Effective Aug. 1, UHC will require a Z-code with genetic test claims. This req…
Optum and Avalon Discuss Genetic Test Claims Review
By Scott Wallask | From the Volume XXX, No. 9 – June 19, 2023 Issue
CEO SUMMARY: With the ever-increasing number of genetic tests on the market, payers are understandably frustrated with genetic test claims that don’t clearly outline the medical need for a procedure or it…
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Volume XXX, Number 17 – December 4, 2023
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