What does it take to save a life?

I’ve always believed there is no nobler profession than being a doctor. The multi-decade commitment to education, the deep understanding of evidence-based science and medicine, the time-sacrifice, and the dedication to bettering and saving lives makes these men and women a special and talented group of people. 

Knowledge, it seems, is what saves more lives than anything else.

The practice of medicine in this country, however, gravely limits the autonomy of doctors and their ability to prioritize their patients' health. It’s why your doctor likely hasn’t told you about an incredibly valuable (and potentially life-saving) test called Whole Exome Sequencing. 

Whole Exome Sequencing is a medical grade comprehensive genetic test that sequences every single known human gene carried in your DNA-- and can identify exactly where your specific hereditary disease risk might lie. Think of 23andMe, but a billion times more thorough and comprehensive. Any known inherited risk, from cancer and cardiovascular diseases to neurological and rare diseases, can be identified through a self-administered cheek swab done at home and Whole Exome Sequencing at a qualified lab. 

The real magic happens when you learn where your risks are, because that empowers you to get ahead of them. Catching problems early or preventing them altogether… this is the knowledge that could save your life. So, why hasn’t your doctor mentioned this test, and where can you get it today?

Why hasn't my doctor mentioned Whole Exome Sequencing to me?

Although most doctors understand the basics of genetics and believe in the value of genetic testing, by no fault of their own, they don't necessarily have deep training on the subject. Genetics is a complex, nascent field of medicine and it changes so fast, it’s often difficult for physicians to keep up with. They may not know the specific type of genetic testing to order, what labs to order it from, and which patient to order it for. Furthermore, physicians know most insurers will not cover testing for the majority of people, so they don’t want to waste their patient’s (or their own) time. 

The result? Eighty percent of people go untested whose lives could be changed or saved with testing. This amounts to tens of thousands of preventable deaths and billions of wasted healthcare dollars annually.

Today, the small majority of physicians that do order genetic testing are typically ordering panel genetic testing, or a small group of genes that focus on a disease area, like breast cancer. While this is a great start, it’s an extremely limited test, since it is the review of only a handful of genes. Sometimes, it isn't clear where your risk lies, and sequencing only a few focused genes could mean that you are missing a ton of valuable information sitting in genes you didn't even know to look for. 

Whole Exome Sequencing avoids this issue by sequencing all genes. Like any medical test, Whole Exome Sequencing has some limitations, but the information that can be extracted about your hereditary disease risk is vast and extremely comprehensive. So why isn’t it the most common genetic test ordered? As thorough as this test is, it can be pricey and rarely covered by insurance. Only recently have advancing technologies and innovative healthcare companies made Whole Exome Sequencing more affordable and accessible.… and doctors are still the last to know. 

Is Whole Exome Sequencing right for me?

The short answer is: most likely, yes. Here’s why: the largest study ever conducted on cancer and genetics was pushed out by Mayo Clinic in late 2020. The study found that 1 in 8 people with cancer have a known genetic link to their cancer. Because Americans have a nearly 50% chance of getting cancer in their lifetime, that means that 1 out of every 16 people reading this article will get cancer that is caused by their genes. Moreover, their cancer can be caught early or prevented altogether. 

These numbers are much higher than researchers and scientists gleaned from previous studies, and it also means that Whole Exome Sequencing could save many more lives than previously thought. One in eight or one in sixteen might not seem like significant odds, but in medicine, it’s enough to warrant UNIVERSAL testing for prevention. Many things endorsed by the medical community annually for early detection-- like mammograms, colonoscopies, and PAP smears-- have identical or far lower lifetime risks than gene-based cancers. Any adult who wants to get in control of their health (and prevent disease before it starts) should consider getting Whole Exome Sequencing.

What can I do with my results?

Every person that gets Whole Exome Sequencing for prevention walks away with one of two results: either they gain peace of mind knowing they have no currently identifiable genetic risks for disease, or they emerge empowered to take control of their health. 

So what happens if you do have a genetic risk for a disease? Most lab reports show actionable results, or results that have available medical therapies that can help spot a problem early or prevent it from happening. This includes more frequent screenings, medication, diet/lifestyle changes, and sometimes surgery. Being armed with information that puts you ahead of your genes is an extremely powerful thing, and it could save your life. It could also save the lives of your blood relatives-- after all, your mom, dad, sister, brother, and kids all share about half your genes!

I want Whole Exome Sequencing NOW! Where can I get it?

So your doctor probably doesn't know about Whole Exome Sequencing, and your insurance company definitely won't cover it… where the heck can you get this test? 

There are a small number of innovative healthcare companies that are bringing Whole Exome Sequencing directly to you. Direct-to-consumer, self-pay Whole Exome Sequencing is hard to find, but not impossible. There are a couple of things you should look out for when searching for a company: 

1. Make sure testing is clinical grade Whole Exome Sequencing and provided by a CLIA certified lab or lab partner. 
2. Ensure the company provides and includes physician oversight AND a Genetic Counseling session with your test; you definitely want experts guiding you through your results. 
3. Whole Exome Sequencing can cost up to $10,000. However, the most innovative companies can be very competitively priced-- some ranging around $1,000.
4. Some companies also accept HSA or FSA payment, so you don't have to pay out of pocket if you have that type of spending account with your insurance plan. 
5. Ask about their data privacy policy. Do they sell your data? Who do they share it with? Can you revoke consent at any time?

Are there any drawbacks to Whole Exome Sequencing?

Although Whole Exome Sequencing is a top-tier genetic test, it isn’t without limitations. Here are some important ones:

1.  Whole Exome Sequencing is limited by the status of our current scientific knowledge. That means that there might be some results in your test that are not yet fully understood. With more time and more research-- and potentially, more testing-- the results may become clearer. 
2. Whole Exome Sequencing isn't the end-all-be-all of disease prevention. It is an excellent tool, but there are many other things done in conjunction with Whole Exome Sequencing that contribute to your overall well-being. Be sure to discuss a wellness plan with your medical provider.
3. Testing negative for a disease risk gene DOES NOT preclude you from ever developing that problem. After all, most cancers and other diseases occur without identifiable genetic causes. 
4. There are laws that protect you from discrimination due to your genetic test results by your health insurer and employer; however, some states do not include life insurance policies in this protection. Be sure to speak to an attorney or life insurance advisor about this.
5. Finally, it is important to speak with your doctor, even if you do get Whole Exome Sequencing outside of their care. You should share your results with them and seek their input so you can craft an optimal healthcare plan together. 

Even bearing its limitations in mind, Whole Exome Sequencing continues to be one of the most promising tools in preventative healthcare.

My company, Panacea, is one of the healthcare companies that increases access and utilization of clinical Whole Exome Sequencing. We bring testing, physician guidance, and genetic counseling to you for just $1,000-- because we believe that everyone should be in the driver's seat of their own health. To purchase a test or to learn more, please visit seekpanacea.com