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.

In 2013, Angelina Jolie made headlines when she announced her decision to have a double mastectomy. Genetic tests had revealed that she carried a mutation, the BRCA1 gene, that has a 65 percent risk of developing into breast cancer. Because Jolie’s mother, grandmother, and aunt had died from breast cancer, her doctor estimated that her risk was 87 percent. The actress chose to take preventative surgical measures.

Jolie’s choice was a very public example of tailored treatment based on genetic screening, but it isn’t the only one out there. In fact, testing for precision treatments is becoming more common as the medical community identifies the genetic components that affect diseases.

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When is genetic screening available?

According to the Genetic Testing Registry, there are over 32,000 genetic tests available, which examine how more than 3,900 genes affect over 5,800 medical conditions. The number increases every year as genome science advances and testing becomes more precise.

Not all tests are easily necessary for every patient. If you are diagnosed with certain cancers or genetic diseases, such as melanoma or cystic fibrosis, genetic testing is often recommended to see which mutation of the disease you have and whether a given treatment will be effective.

Preventative tests, such as the one Jolie had, are also becoming more common for high-risk patients with a family history of certain diseases. For patients with certain common conditions, such as deep vein thrombosis or heart disease, tests are available to check how likely you are to respond to certain drugs.

But just because tests exist or are recommended by a medical professional does not mean that they will come cheap.

How much do genetic tests cost?

If you’ve already been diagnosed with a serious disease like lung cancer, most insurance companies will cover the cost of genetic screening to develop a treatment plan. But this isn’t always a guarantee. In fact, lack of coverage for genetic testing is common enough that the American College of Preventative Medicine has an entire section of their genetic testing guidelines devoted to finding out if you will be reimbursed for their cost.

Preventative tests are often not covered by insurance and can come with a hefty price tag. In an editorial about her decision to get a double mastectomy, Jolie reported that her tests cost $3,000. The average cost has gone down since then, and many private companies will perform genetic screening for $1,000 to $1,500. Once you have your genetic profile, however, you still need a medical professional to review and interpret it, and most doctors recommend working with a genetic counselor to help you assess your options and make a decision.

On top of that is the cost of the tailored treatments themselves, which are sometimes prohibitively expensive.

Can testing be cost effective?

Some advocates of personalized medicine argue that the tailored nature of treatments should make them less expensive than traditional medicine. "If you have an expensive drug ... rather than give it to everybody, the act of individualizing that therapy actually reduces costs," Dhruv Kazi, MD, told CNBC.

Kazi, a cardiologist who works at the University of California in San Francisco, is one of the authors of a 2014 paper that lays out the cost-effective results of genetic screening for acute coronary syndrome. Published in the Annals of Internal Medicine, the paper concludes that treatments guided by a patient’s genotype are more precise and effective, and therefore genetic tests can help lower the overall cost of treatment.

Another paper, agrees with Kazi’s assessment. Screening patients for personalized treatments, the authors argue, allows for early detection and prevention. For diseases with many variants, genetic testing helps doctors find the correct treatment sooner, avoiding the cost of unnecessary or ineffective measures.

The future costs of precision screening

Some insurers agree and are willing to pay for the cost of both screening patients and the personalized therapies they need. In the United States, the federal government is also stepping in, proposing a $215 million investment in 2016 to the Precision Medicine Initiative to fund research into genetic screening and personalized treatment.

The goal of the initiative is that eventually personalized medicine will become the new normal, and tailored screening and treatment will be available to all patients.

Until then, it’s important to check with both your doctor and insurance company to find out what testing is available and how much it will cost.

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