FDA Approves Consumer BRCA Test, And We Take Another Step Into The Brave New World Of Genomics

The approval by the Food and Drug Administration of 23andMe’s BRCA test is bound to create a discussion about the merits and pitfalls of direct to consumer genetic testing for cancer risk.

It is also going to add fuel to a growing fire about how we as a nation assess genetic risks for cancer, and whether society is prepared for what is inevitably going to become a genomic-influenced and informed culture of health.

From my perspective, as someone who has given considerable thought to these questions over the past several years, there are no easy answers.

The announcement was straightforward: the FDA approved a test that will check for three specific mutations in the BRCA gene, which—if present—represent a signal that a man or woman is at an increased risk of certain cancers. For men, increased prostate cancer risk and the ability to pass the gene on to their children are the most important implications. For women, increased risk of breast and ovarian cancer top the list, in addition to the possibility they too could pass the gene to their offspring. (More information about BRCA genes and testing can be found here.)

Sounds simple, doesn’t it? Swab the inside of your cheek, send it off to the lab, get the report, and you know the answer. Or do you?

If the test comes back positive, then you have one of the three “founder” mutations tested. (A founder mutation is a genetic change that has been passed down from generation to generation, and is most common in Jewish folks of eastern European or Ashkenazi decent). You can then go to your health professional and find out what your next steps should be to confirm the test, and what you can do to reduce your risk of cancer.

However, it is not so simple. You see, these are only three of what are probably thousands of mutations that can occur in the BRCA genes. And most of the BRCA abnormalities found in the United States population are NOT founder mutations. So, there is a high likelihood that you could have a strong family history of breast and/or ovarian cancer, get a negative test, and yet still harbor a mutation that could substantially increase your risk of cancer, especially breast and ovarian cancer in women.

In short, you might be led to think you are “off the hook,” when the hook is still very much intact.

“So,” you say, “I understand the limitations of the test. I should be able to make my own decisions.”

True, to a point. After all we live in a much more informed and self-directed society than has been the case in the past. We want to make our own decisions, take responsibility for our own health, do what we need to do, etc. etc.

However, is everyone as “activated” as you are? Is everyone as well informed as you are? Does everyone understand the limitations of the tests, and the implications of the test? When it comes to genomics, its implications and interpretations we as a nation are woefully ill-prepared.

The implications of this test are not quite the same as a slightly elevated cholesterol or uric acid. The presence of a BRCA abnormality has meaning, not only for your personal assessment of your health, but for others who have a legitimate interest in your health such as life insurance companies and disability insurance companies. If you are 30 years old and know you have a BRCA mutation, you are obligated to share that information if an insurance company asks the question, such as: Do you have any known health conditions? I am not saying that’s a good or bad thing; merely that it is one of the nuances some folks may care about however don’t spend much time thinking about.

Then there are the researchers who battle about this question frequently: should consumers have the right to get the BRCA test if they want it, and will they abuse that right to get the test inappropriately? Who defines what is “appropriate”?

The medical literature has taken direct to consumer genetic testing to task in several research papers over the past couple of years, claiming that the test was frequently done inappropriately, while other researchers have opposing conclusions and commentary arguing that there is value for everyone getting tested for BRCA.

Even Angelina Jolie has been criticized for sharing her experience with BRCA testing and the steps she took to reduce her risk of cancer: an article in the British Medical Journal took her to task as responsible for a surge in “inappropriate” BRCA testing.

Over the past couple of years, I have shifted my personal position on the question of access to BRCA testing. I have moved more into the “direct” camp. I have become more open to the fact that not every person who gets BRCA testing needs a pre-emptive counseling session with a certified genetic counselor (that is still the rule for some insurance companies when they are being asked to pay for the test). Even the genetic counselors have told me they have better things to do with their time, and that there are acceptable alternatives to informing those who want to know more about the test before they get it, such as computer-based information modules.

So for now, the gauntlet has been thrown down: the government has approved a direct to consumer test for BRCA. It is not a perfect test. It will likely get substantial publicity/advertising, and inevitably someone will not follow the suggestions as to whether they should be tested, what they should do about the results if positive, and whether they should get further testing if it could be what we call in medicine a “false-negative” (a negative test result when in fact there is a mutation lurking in the gene that was not discovered by this focused test). False assurance that everything is fine is also not a good thing.

Of this I have no doubt: this is the start of an early discussion on the value and role of genetic testing in the population at large. Who should be tested, what they should be tested for, what to do about those test results, and how to help people make the best decisions for their health care are all on the table.

Unfortunately, neither our population in general nor a goodly portion of our health professional work force is yet sufficiently familiar with all the nuances, questions and answers about genetic testing that people who rely on them expect them to know.

It’s going to be a brave new (genetic) world, and perhaps it is time we start preparing for it. Today’s announcement is but an early step in a much more complex journey.

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J. Leonard Lichtenfeld's Biography

Dr. Len

J. Leonard Lichtenfeld, MD, MACP: Dr. Lichtenfeld currently serves as Deputy Chief Medical Officer for the American Cancer Society in the Society's Office of the Chief Medical Officer located at the Society's Corporate Center in Atlanta. Dr. Lichtenfeld joined the Society in 2001 as a medical editor, and in 2002 assumed responsibility for managing the Society's then newly created Cancer Control Science Department which included the prevention and early detection of cancer, emerging cancer science and trends, health equity, quality of life for cancer patients, the science of cancer communications and the role of nutrition and physical activity in cancer prevention and cancer care.  In 2014, Dr. Lichtenfeld assumed his current role in the Office of the Chief Medical Officer where he provides extensive support to a number of Society colleagues and activities. As a result of his over four decades of experience in cancer care, Dr. Lichtenfeld is frequently quoted in the print and electronic media regarding the Society's positions on a number of important issues related to cancer. He has testified regularly in legislative and regulatory hearings, and participated on numerous panels regarding cancer care, research, advocacy and related topics. He has served on a number of advisory committees and boards for organizations that collaborate with the Society to reduce the burden of cancer nationally and worldwide. He is well known for his blog (www.cancer.org/drlen) which first appeared in 2005 and which continues to address many topics related to cancer research and treatment. A board certified medical oncologist and internist who was a practicing physician for over 19 years, Dr. Lichtenfeld has long been engaged in health care policy on a local, state, and national level.  He is active in several state and national medical organizations and has a long-standing interest in professional legislative and regulatory issues related to health care including physician payment, medical care delivery systems, and health information technology. Dr. Lichtenfeld is a graduate of the University of Pennsylvania and Hahnemann Medical College (now Drexel University College of Medicine) in Philadelphia.  His postgraduate training was at Temple University Hospital in Philadelphia, Johns Hopkins University School of Medicine and the National Cancer Institute in Baltimore. He is a member of Alpha Omega Alpha, the national honor medical society.  Dr. Lichtenfeld has received several awards in recognition of his efforts on behalf of his colleagues and his professional activities.  He has been designated a Master of the American College of Physicians in acknowledgement of his contributions to internal medicine.  Dr. Lichtenfeld is married, and resides in Atlanta and Thomasville, Georgia.

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