The Cost of Screening for Personalized Medicine

Insurers will sometimes pay for genetic testing. Other times, your only option may be to cover the cost yourself. Here's what you should know about the cost.

Angelina Jolie made headlines when she announced her decision to have a double mastectomy. Genetic tests had revealed that she carried a mutation, BRCA1, that sharply increases the risk of developing breast and ovarian cancer. 

Every patient is different. In her case, doctors estimated that she had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer. Jolie’s mother, grandmother, and aunt had died from breast cancer. But after her surgery, her chance of breast cancer dropped to under 5 percent. Some women who have the BRCA1 or BRCA2 gene mutation also remove their ovaries.

Jolie’s choice was a very public example of tailored treatment based on genetic screening.

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Doctors may screen for inherited diseases in embryos created through assisted reproductive technology, embryos in the womb, and newborns. Someday DNA sequences may be routine or state-mandated for infants, like the current heel-prick test, which provides a blood sample examined for about 30 conditions.

You might test yourself to see if you could pass a certain gene to your children, even if you do not have symptoms of a disease.

You might test for a disease that runs in your family, to help your doctors anticipate your future, diagnose symptoms, or evaluate the severity of an illness.

Gene tests can also guide decisions about drug treatment options, dosages, and chemotherapy and radiation for cancers.

What genetic screening is available?

The Genetic Testing Registry, a branch of the National Institutes of Health, now records tests for nearly 19,000 genes relevant to nearly 11,000 illnesses. The total number of tests that have contributed data to the registry is almost 78,000. After growing fast, the numbers have been fairly constant since 2019.

Your doctors are most likely to recommend testing if you are diagnosed with certain diseases, including cystic fibrosis, polycystic kidney disease, and inherited breast and ovarian cancer. Tests may help guide your treatment.

The American Heart Association, for example, recommends genetic testing under certain circumstances to treat several inherited heart conditions.

But the tests may not be cheap.

How much do genetic tests cost?

Insurers generally cover genetic testing recommended by a doctor, especially if you’ve already been diagnosed with a serious disease like lung cancer. You most likely will still be on the hook for deductibles and copays. 

When you pay on your own, the cost varies from hundreds to thousands of dollars. Many doctors and hospitals offer discounts of around 30 percent.

Once you have your data, speak with a genetic counselor to assess your options. You may also need to fight for insurance coverage of expensive treatments.

You can find some affordable tests marketed directly to consumers.

SelfDecode will interpret your DNA results and provide health recommendations for as little as $199.

Nebula Genomics, which is highly rated by Money magazine, will give you a whole genome sequence, all of your DNA, detecting rare mutations for more than $500. Note that your Nebula report will be complex and won’t include information for building family trees.

Can testing be cost effective?

Medicine based on gene or genome testing emerged as cost-effective, compared to usual care, in most studies, according to one overview of research. The cost of lab work is expected to keep falling, which could make a big difference.

That said, tests may not benefit patients. A tool developed by the world-renowned Memorial Sloan Kettering Cancer Center in New York calculates that, out of many new anticancer drugs linked to genes approved over more than a decade, only a handful were worth the cost.

The Food and Drug Administration (FDA) is working to ensure the accuracy of gene and genome tests. The FDA created precisionFDA, “a cloud-based community research and development portal that engages users across the world to share data and tools to test, pilot, and validate existing and new bioinformatics approaches.”

Ultimately those efforts could lower healthcare costs. But there are no guarantees.

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