Genomics and Utilization Management
Genetic testing has revolutionized healthcare by providing clinicians with the tools necessary to predict disease. Sequencing and mapping DNA and other bioinformatics brings huge potential to medicine. Cancer, for example, can be hereditary. Knowing one’s predisposition to cancer could mean the difference between life and death.
In the case of Li-Fraumeni Syndrome, a “rare inherited genetic cancer disorder that greatly increases one’s risk of developing cancer during their lifetime,” genetic testing would be an invaluable tool. In a white paper published to bring awareness about this syndrome, the Li-Fraumeni Association estimates between 5 and 10 percent of malignant tumors are hereditary in origin.
What are some Types of Genetic Tests?
Genetic testing can provide information about a person’s genes and chromosomes. Available types of testing include:
- Newborn screening
Newborn screening is used just after birth to identify genetic disorders that can be treated early in life.
- Diagnostic testing
Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition.
- Carrier testing
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder.
- Prenatal testing
Prenatal testing is used to detect changes in a fetus’s genes or chromosomes before birth.
- Preimplantation testing
Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization.
- Predictive and presymptomatic testing
Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life.
- Forensic testing
Forensic testing uses DNA sequences to identify an individual for legal purposes.
When Should Health Plans Cover Genomics?
A delicate balancing act is required to ensure the appropriate use and reimbursement of advanced medical testing. As with other types of care, plans must determine when a patient qualifies for genetic testing. The question has arisen as to whether it is possible to use traditional utilization management methods with such new advances.
One company, InformedDNA, has developed methods for health plans to determine when coverage for genetic testing is appropriate. InformedDNA is a group of unbiased genetics experts which has established itself as the nation’s authority on the appropriate use of genetic tests. These genetics experts “act as a trusted advisor and partner to payers, guiding the way to responsible personalized medicine that improves quality of care and outcomes for members and protects health plans from wasteful spending.”
The task of updating traditional UM interventions to address this new and dynamic field in healthcare is a complicated one. Traditionally, UM practices have set the standards in terms of containing costs, improving quality and patient safety, and reducing unnecessary medical treatments.
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 LFSA. “Cancer: Genetic testing can save lives,” Retrieved from: http://www.lfsassociation.org/app/uploads/2015/06/Cancer-Genetic-testing-can-save-lives-Brazil.pdf
 NIH, U.S. National Library of Medicine, Retrieved from: https://ghr.nlm.nih.gov/primer/testing/uses