CEO SUMMARY: Since 2011, the University of Florida Health System has used pharmacogenetic test (PGx) results to guide physicians when they prescribe certain drugs. This initiative has improved patient outcomes, reduced the overall cost per episode of care, and gained partial reimbursement from health insurers for PGx test claims. As this testing becomes more widespread, clinical
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: This summer, both Geisinger Health and Sanford Health will introduce genetic tests designed specifically for use by primary care physicians in their daily practice. This is a significant milestone on the road to wider deployment of precision medicine services. In the case of Sanford Health, it plans to offer patients a $49 genetic
CEO SUMMARY: It’s almost a case of man bites dog. In malpractice cases involving genetic test results, labs are often assumed to be at fault. But in a lawsuit filed in Oregon, healthcare providers are alleged to have misinterpreted a genetic test. As a consequence, a patient underwent medically-unnecessary and life-changing surgery. This malpractice lawsuit
CEO SUMMARY: In recent weeks, a client notified Invitae of discordant results on a patient. The notification caused the genetic testing company to discover it had a systemic error that failed to test for a specific rare mutation associated with inherited cancer. Company officials believe only 2 to 15 patients received a false negative test
CEO SUMMARY: Since Anthem and AIM Specialty Health began a prior-authorization program for genetic testing July 1, a Northeast lab has not had any genetic tests approved through the new system. Physicians told the lab that the steps required for prior authorization were disruptive. Those doctors who regularly order genetic tests had not been trained
CEO SUMMARY: Pre-authorization of genetic tests is coming to physicians serving patients insured by Anthem, Inc. Its specialty benefits management company, AIM Specialty Health, will manage the program. AIM will work with InformedDNA, a company that specializes in genetic testing clinical decision support and genetic counseling for health insurers. Anthem has about 40 million members
CEO SUMMARY: At a time when most molecular and genetic testing companies are struggling to gain coverage for their tests, this Silicon Valley-based lab company has become an in-network lab provider for a number of health insurers—including three of the nation’s largest payers. It did this by establishing a patient-friendly price of $249 for its
CEO SUMMARY: Genetic tests that lack two essentials are troublesome 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 information
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