When and whom to test for a genetic predisposition to cancer has been confusing to both patients and many doctors.  The traditionally high cost of testing (thousands of dollars), coupled with insurance companies’ reluctance to pay for testing in the general population, has led to a mystique that such testing is both unnecessary and unaffordable to most people.  However, there is one group that seemingly would be ripe for such testing – an ethnic group that has ten times the chance of carrying a genetic mutation that, when present, can cause an 80% lifetime risk of breast cancer and more than a 40% lifetime risk of ovarian cancer.  Furthermore, because of a genetic concept known as founder mutations, the cost of doing genetic testing in this population is about a tenth what it would normally be.

The ethnic population I am speaking about are people of Jewish descent from eastern Europe and Russia – the so-called Ashkenazi population which encompasses almost all Jewish people in the United States.  And while this group would seem to be the perfect genetic storm of high chance of carrying a mutation, high risk of life threatening disease, and relatively low cost to testing, it is also in my experience the perfect storm for excuses not to test:  “Nobody in my family has it”, “My insurance won’t cover it”, “I’ll lose my insurance if I am a carrier”, “I would never have my breasts removed”, “I’ve already had cancer”, “I’m too old to do anything about”, “I’m too young to think about it.”

A recent study conducted in Israel has brought to public attention what some of us in the field of cancer genetic testing have been saying for years:  If you are of Jewish descent, even if you don’t have a personal or family history of breast or ovarian cancer, you should consider being tested for the BRCA1 and BRCA2 founder mutations.  (BRCA1 refers to the first discovered breast cancer associated gene and BRCA2 for the second such discovered gene).

Yet what difference would it make, you ask?  Most people’s thoughts about BRCA are focused on breast cancer risk.  Understandably, many women who are fine now are reluctant to consider genetic testing and contemplate prophylactic mastectomies to prevent a breast cancer they may or may not get in the future, due to a genetic mutation.  Nonetheless, BRCA women carriers have other options when it comes to reducing breast cancer risk and younger women who carry mutations should afford themselves of screening starting at age 25 with MRI as a complement to mammography.  However, the even more compelling reason to be tested is the inordinately high risk of ovarian cancer in this population.

As shown above, the lifetime risk of ovarian cancer in BRCA carriers in the Israeli study was over 50% and starts to dramatically rise in their mid forties.  Unfortunately, there is NO effective screening for ovarian cancer; but having one’s ovaries removed after having your family effectively prevents ovarian cancer.  Today, laparoscopic or robotic removal of the ovaries is a relatively simple surgical procedure with a quick recuperation.

As summarized by the study authors:  “We determined that risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained from the general population are as high as for mutation carriers ascertained through personal or family history of cancer. General screening of BRCA1 and BRCA2 would identify many carriers who are currently not evaluated and could serve as a model for population screening for genetic predisposition to cancer.”

Today we live in an age called “evidence based medicine” whereby, even if something is obvious on the face of it, one must do a study to prove it is true before it can become accepted medical practice for which insurance companies will pay.  This study both provides such evidence and has increased public awareness of the benefits of cancer predisposition testing.  It also opens the door to insurance companies offering universal testing of BRCA in the Jewish Ashkenazi population even when there is no known family history of breast or ovarian cancer.

So, to all my friends of the Jewish faith who are in synagogue this week celebrating the coming of the Jewish New Year, take a look around.  One in forty of you carries a genetic tendency that began over 2000 years ago and through both men and women has been passed down from generation to generation as are the biblical passages you are reading about.  This is one case where we have the potential to alter our genetic destiny – so consider BRCA counseling and testing in the New Year to come; even if no one in your family has had breast or ovarian cancer and your insurance company is stingy.  Then pen a letter to your insurance company and your benefits manager inquiring why one of the most cost-effective and life-saving tests we can offer is not routinely covered in this high risk population.

by Dr Ed Taubman  Olney Maryland  301-774-5400

General Internal Medicine and Cancer Genetic Counseling

We just had our open house for our next multidisciplinary integrative weight loss program which begins on September 29. We heard the testimonials of recent participants who had struggled with weight for most of their lives until we helped them re-engineer their relationship with food and healthy eating.  Hearing their inspiring stories of lifelong struggles and that some had now lost 30 or even 40 pounds through simple changes in diet is exciting for our integrated weight loss team (nutritionist, psychotherapist, chef, yoga/personal trainer, and physician).  Recently, we were approached to create a similar program directed to obese teens and will be working with a local group in Olney to create an effective program for adolescents.

The epidemic of adult and childhood obesity, diabetes, and chronic illnesses makes one question if what we are doing is working.  Like all issues in health and medicine, our nutritional thinking has changed dramatically over the years as our scientific knowledge has advanced.  But, are the servings of the school cafeteria today much different from what you and I grew up with?  This thought-provoking article about a New York Elementary School That Is Changing More Than Meals http://nblo.gs/ZGkeC got me thinking about the right time to teach the next generation about changes in nutritional thinking.  Please read it and then come back and take my poll below to share what you think![polldaddy poll=8298499]

Recently there have been some new articles concerning the benefits, and perhaps downsides, of limiting one’s salt (sodium chloride) intake.  We know that high salt in one’s diet can contribute to high blood pressure.  We know that people who have heart problems such as congestive heart failure, hypertension, or severely impaired kidney function may need to limit their salt intake.  We know that countries in the world that have the highest salt intake often have the highest rates of cardiovascular disease.  So it would seem logical to infer that, globally, if we all lowered our salt intake, there would be a reduction in cardiovascular complications such as heart attacks and stroke.

With that in mind, the American Heart Association and the CDC have recommended a very low (2.3 grams of sodium per day or less) diet for all. If you are over the age of 50, African American,  hypertensive, or diabetic, they recommend further limiting your total sodium intake to 1.5 grams or less.  To keep that in perspective, the average American takes in more than twice that amount (3.4 grams according to the CDC).  For most people about a quarter of their sodium intake comes from the salt shaker and three quarters from “processed foods” including most canned vegetables, soups and sauces; these have added sodium, which enhances taste and texture, and acts as a preservative.  Ditto for breads and rolls.  Fresh and processed poultry and cold cuts are typically high in salt content as well.  Restaurant foods and, of course, potato chips and pretzels are sources of excess salt and sodium.

Preventing cardiovascular disease is certainly a worthwhile endeavor.  Unfortunately, when subjected to scientific scrutiny, many commonly accepted preventative interventions other than lifestyle change such as exercise and keeping one’s weight down have failed to live up to their promises.  In previous posts we have addressed controversies about the roles of daily aspirin, saturated fats, vitamin D and others in preventing disease and prolonging life.  So what about those recent articles about salt and health?

They do confirm that with higher levels of sodium intake (greater than 6 grams per day), there indeed is a higher risk of cardiovascular disease and hypertension.  However, one of the articles suggests that for the average person the ideal range of salt intake might be more in the order of 3 to 6 grams per day; and for those who significantly lower their salt intake down to the levels recommended by the American Heart Association there may actually be an increase in cardiovascular disease.  The same article also confirmed previously noted trends that higher intake of potassium (as commonly found in fruits and vegetables) may help to reverse some of the adverse effects of salt.

While the experts continue to debate the true meaning of these articles, and look to confirm or refute their findings, what are the prudent actions to take?

First, try and take an inventory of how much salt you consume on average.  Learn to read labels.

If your daily salt intake is 6 grams a day or more, all the studies indicate that your health is potentially being jeopardized; and you should strive to reign in your salt intake.  If you do need to be on a lower salt diet studies have shown that people are much more successful if another family member consumes the same diet.

Try and increase your fruits and vegetables which will help keep your potassium levels up and also help you keep your weight in check.

If you are healthy and without hypertension or heart failure, given the above noted controversy among the “experts,” you don’t necessarily need to go on a very low sodium diet – unless directed to do so by your doctor – but continue to exercise, keep your weight down, and improve on your intake of fruits and vegetables.

Remember, everyone is different and what is best for one person might not be best for you.  The “experts” who make the general recommendations for the population at large aren’t taking care of you personally.  If in doubt check with your own doctor.

By Dr Ed Taubman Olney Maryland 301-774-5400

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