Posted by & filed under Genetic Counseling For Heritable Cancers, Genetics as Preventative Care, Vibrant Gene.

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Thanks to new technology, access to genetic testing for heritable cancers is no longer elusive.


Until recently, hereditary cancer genetic testing was limited to patients who sought care in high risk cancer clinics.  Testing was expensive and reserved for people already diagnosed with cancer or folks who had an extensive family history.  Many individuals sought testing but didn’t fit the standard criteria, their insurance denied coverage and as a result they were unable to gain access to the testing they needed.  To this day, many insurance companies continue to deny coverage, and patients often are left to deliberate about whether they can afford the expense on their own.

But the entire system may be changing dramatically with the development of new technologies that drive the cost down.  A single test that can screen for two genes would cost $4000 at Myriad Genetics a few years back.  That cost dropped dramatically to $1500 for multiple genes screened at Invitae and other labs.  And today that price has dropped to a mere $249 for Color Genomics’ testing 19 genes associated with breast and ovarian cancers.  With Color Genomics‘ new cancer panel, even if insurance denies coverage, most people are still able to afford testing.

The CEO of Color, Dr. Elad Gil, touts this as an effort to, “democratize access to genetic testing.”  Color Genomics requires you to obtain a prescription from your healthcare provider prior to being tested, but the testing is then in your hands.  The company can send you a saliva collection kit to your home.  Color will then purify DNA from your saliva sample, and subsequently test the sample for variants in 19 genes associated with breast and ovarian cancer.

At Vibrant Gene, we believe that it is your right to know your personal genetic information.  We laud the efforts of companies such as GeneDx, Ambry, Invitae and Color Genomics for making these tests more affordable to all-comers.  After all, this information has the power to save lives through careful screenings and appropriate preventative care.

But thinking beyond simply the price tag, we are also very cognizant that this testing is not for exactly right for everyone.  Nor is this testing fool-proof.  Here are some questions you might want to approach your healthcare professional with, prior to pursuing cancer screening:

1. What are the chances of receiving an uninterpretable result?

Every genetic testing company encounters variants that have not been revealed before; as a result the laboratory cannot determine if these results are significant to your health or not.  This leaves individuals and family members in turmoil!  Myriad Genetics currently leads the pack in terms of having the lowest rate of uninterpretable results (estimated at around 2%).  Inquire about the rate of, “variants of uncertain significance.”

2. What is risk of actually getting cancer, and what can be done to prevent it?

Even if you have a variant in a heritable cancer gene, that does not guarantee you will get cancer.  No single heritable cancer gene has been found to have a 100% risk of your getting that particular cancer.  If the risk is low, is that information still of value to you?  Are there guidelines that inform your doctor how s/he should treat patients with this variant?  Would you have different screenings each year to detect early cancers?  Are there treatments specially designed for variant carriers?  If the answer is “no” then you might wonder why bother to check that particular gene at all.

3. Is there any risk of genetic discrimination?

The Genetic Information Non-discrimination Act (GINA) was passed by congress in 2008. Currently, GINA affords protections for most people who carry private insurance, so that your insurance company cannot use genetic information to make decisions about your coverage, or your rates.  It also prohibits your employer from hiring, firing, or promoting someone based on their genetic health information.   Note that smaller plans and military insurance plans are excluded from GINA and that life insurance and long-term care insurance policies are exempt.  You may want to discuss your needs further with your healthcare provider, prior to seeking testing.

4. Are you a believer that “less is more”?

Some of our clients prefer to only screen for a few gene variants at a time.  There’s no reason why you have to screen for 19 genes associated with breast cancer, when you want to test in a step-wise fashion.  This is truly a matter of personal choice, and you simply need to inform your genetic counselor of your preference.

If your healthcare provider is able to address your concerns about genetic testing for heritable cancer genes, we congratulate you for your efforts!  We remain firm that knowledge is power, and this information can save lives.

For other considerations, we recommend you visit our website and previous blogposts on genetic testing direct to consumers.  As always, feel free to contact us to address any concerns you may have remaining.

To your health!



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