CEO SUMMARY: Genetic tests that lack two essentials are trouble- some for the nation’s health insurers. Those essentials are clinical validity and clinical utility. During a recent webinar, two executives from major health insurers stressed the need for genetic testing labs to provide acceptable evidence that their genetic test is accurate and that it produces
Genetic TestingSkip to articles
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.
CEO SUMMARY: One essential element of precision medicine will be the regular use of pharmacogenomic testing to provide additional guidance to physicians when selecting the most appropriate therapeutics and optimal dose for each individual patient. Despite the reluctance of private payers and Medicare to reimburse for pharmacogenomic tests, Avera Institute for Human Genetics (AIHG) in
CEO SUMMARY: Obstetricians and gynecologists have told health insurers that requiring genetic counseling before approval of genetic testing has a negative effect on patient care and is unnecessary. Recently, two ob-gyn associations went on record opposing such requirements. Ob-gyns say they are trained and capable to recognize which patients need such testing. Clinical labs offering
CEO SUMMARY: For three years, Cigna has required genetic counseling for members seeking genetic testing for hereditary breast, ovarian, and colorectal cancer, and for a particular heart condition. Such counseling increased member satisfaction, causing Cigna to expand the program. It now requires genetic counseling with an independent board-certified genetics specialist for members considering whole exome
CEO SUMMARY: Managed care experts say health insurers are being overwhelmed by the number of new genetic tests and that many labs find it tough to get paid for these tests. UnitedHealthcare just announced it will require pre-authorization of molecular and genetic tests during 2016. Meanwhile, Cigna, which already has pre-authorization in place for certain genetic tests, said it intends to
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, issued NGS test guidelines that some experts see as an attempt to
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 molecular and genetic tests at the rate of 10 per day! The company,
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.
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, depression, anxiety, and cancer. Meanwhile, medical centers such as Mayo Clinic are conducting clinical studies to collect evidence that appropriate use of pharmacogenomic tests can improve patient outcomes while also reducing the cost of care.
CEO SUMMARY: Across the nation, hospital administrators are recogniz- ing that effective lab test utilization is a critical factor in a lab’s success. At Seattle Children’s Hospital, clinical pathologists, clinical chemists, and labora- tory genetic counselors are using an innovative utilization management pro- gram to ensure the appropriate use of genetic and molecular tests. They also formed Pediatric Laboratory Utilization Guidance Services. In two years, PLUGS has gained 32 members, including seven hospital labs serving adults. Interest in utilization management is driven by a desire to decrease test order- ing errors and to control the cost of send-out tests.