To screen or not to screen, that is the pregnant lady's choice. . .

Screen.
Screen.
Screen.

That's a lot of what I do as a primary care provider: I screen for diabetes, high cholesterol, chlamydia, hearing loss, cervical cancer, obesity, alcohol misuse, depression, breast cancer, domestic violence, obesity, anemia.

I ask a series of questions, sometimes order a lab test or an imaging study, and then, voila!,  I give a literal pat on the patient's back or send a nice letter. "Your blood pressure looks great!" "I am so glad to hear you are exercising regularly!" "Normal pap, due next in 5 years!" "Nice cholesterol, keep up the flax seed oil!" "Nice body mass index, see ya' again next time!"

I love it when the screening tests come back negative.  That's why I pat so enthusiastically and write always using an exclamation mark. My patients love it too.  I feel good about keeping you healthy! You feel good getting a clean bill of health! Happy patient, happy doctor!

Except when the screening test comes back positive.

Then, what do we do?

First, the worry sets in:
Does that mean I have diabetes? Well, it might.
What is wrong with my cervix? We need to do another test to find that out.
Does my baby have a metabolic disorder? We will have to wait for the confirmation, maybe not.
Are you sure that test result isn't wrong--I feel just fine. . .Well, that's why we screen.


Then it can quickly get confusing:
So is this or is this not a problem? Hmmm. . . not sure, I'll get back to you.
Should I be worried? I don't know quite yet.
How invasive is the follow-up test? Let's talk about that.

Is it necessary? Maybe, maybe not.

Do I have the right to refuse? Always, mostly.


All this confusion, concern, and frustration may be lightened (or even avoided) if both patients and physicians ask and answer a few important questions BEFORE anything is ordered and resulted. Here, are those questions: 

1) Should I have the test in the first place?
2) Exactly what information will these tests provide?
3) What would I do in response to what is learned from these tests?

These three questions can be applied to any range of medical evaluations, including, for example, a cholesterol blood test, a cardiac catheterization (aka angiogram), an MRI, and even pee test for your healthy five-year-old. And, in my opinion, not only can they be applied but really they should be considered before the test is ordered.

***

Human beings like diagnostic tests.

While we don't always appreciate the results, we do value the clear and simple answers that come from these tests. Common examples of diagnostic tests with such clear answers include pregnancy tests, throat cultures, and gonorrhea tests. Yes, you are pregnant (wooo hooo!). Yes, you have strep throat (bummer). No, you do not have gonorrhea (phew, thank goodness, thank giddyup!).

But screening tests are a different beast. Screening tests are designed to capture a subset of the population that may be at increased risk for (you fill in the blank) ________ illness or event. They invoke uncertainty. They give a sense something might be wrong, but hold out the possibility that things may be just fine.

In this era of evidence-based medicine, we have more capacity to order more tests, check more levels, offer more studies, more images, and more screening. In theory, these screening tests pick things up early enough to make a difference-- to make the disease curable or treatable or manageable. Many people think more is better, but is that always true? Screening may save you from something as deadly as cancer, but, unfortunately, it's not always as simple.

As our tool set increases in breadth and depth, physicians and patients find ourselves questioning the validity of many of the things we screen, test and treat routinely: breast cancer, pap smears, prostate cancer, aggressively treating blood pressure, how tightly we should control blood sugars. . .even whether or not we should treat strep throat.
                                                                   ***
Prenatal Genetic Screening
As an example, I want to explore the intricacies and challenges of decision-making regarding prenatal genetic screening.

Prenatal genetic screening-- that is, checking during pregnancy to see if the developing fetus/embryo/baby is congenitally normal-- has been an ever-expanding field since it emerged in the 1970s. Today, it is standard of care at the first or second prenatal visit, regardless of a mother's age, underlying risks, or medical history, to offer women a range of genetic screening options.

This is my very least favorite part of an OB intake. It goes something like this: "Hi, nice to meet you. Congratulations on your pregnancy. I believe that pregnancy is a unique opportunity for me to care for you and your family during a time of wellness and growth. Pregnancy is a healthy state, and let's do everything in our power to keep you healthy. By the way, do you want me to order tests that will see if that sweet baby growing inside of you is defective?"

(Uh, awkward).

It's hard to delineate exactly what percentage of women are accessing prenatal genetic screening, but by including ultrasound evaluation in the definition, then close to 100% of pregnant women choose to have some part of prenatal genetic screening. If you consider non-invasive blood tests, I estimate about half of my patients choose this form of testing.

I have come to believe that most women choose to do genetic screening for one of three reasons: 1) The prenatal care provider is recommending it as standard of care (and boy do we have some serious super powers to convince people to do all kinds of things they don't normally do (remember that, colleagues, please)). 2) People like tests they feel confident they can pass. Most women assume they will have a normal/negative screen. Rarely I have a patient who is really worried about their genetic screen (usually an older mom, or someone with congenital abnormalities in their family), but these are generally the exception. 3) The risk seems low. These tests are non-invasive, non-traumatic for the growing pregnancy, so. . .well, why not?

A history of prenatal genetic screening
While there was the suggestion by the 1930s that there must be a genetic component to Down Syndrome, it wasn't until the 1960s that scientists finally proved that the cause is a replicated chromosome number 21. Down Syndrome (aka Trisomy 21) remains one of the most common congenital abnormalities among live births and one of the most causes of mental retardation. The predicted rate is 1 in 643 births in the absence of selective termination of affected pregnancies.

In the early 1970s, came the juxtaposition of the chromosomal basis for Down Syndrome with the realization that fetal chromosomes could be examined in the amniotic fluid extract of the mother. Welcome the first amniocentesis for genetic screening-- a test in which amniotic fluid is literally pulled out of a pregnant woman's belly and tested for the presence of chromosomal abnormalities. A paper on the topic published in the still-esteemed New England Journal of Medicine sealed the deal.

The lore is that the maternal age of 35 (often nicknamed "advanced maternal age", a term I HATE HATE as a now 37-year-old pregnant lady, myself) was chosen  because, at the time amniocentesis was introduced, the risk of pregnancy loss (due to amniocentesis) was less than the risk of discovering a genetic abnormality. By 1983, there were simmering ethical discussions encouraging offering amniocentesis to women of all ages, especially as the procedure became less risky.

In the early 1990s non-invasive testing arrived: specifically, maternal fetal serum alpha fetoprotein (aka MF-AFP or just AFP). This was the first test offered to all women (regardless of risk) to evaluate for open neural tube defects in babies. The most common neural tube defect is spina bifida. Historically this blood test was offered in the second trimester (weeks 15-20), at which time if a woman screened "positive" (that is, had an abnormal screen), she would be offered an amniocentesis to confirm the presence of an abnormality.

The AFP was soon expanded to the "triple test" (3 markers) and eventually became the "quad screen" (4 markers), which looks at four markers in mom's blood. These are AFP, HCG, estriol, and inhibin--today, we often refer to the combination as the serum integrated screen or the sequential integrated screen.

In 2007, ACOG decided that ALL women should have access to routine prenatal genetic screening (at a cost of somewhere between $100-$2000 per patient) before 20 weeks (aka 5 months) and women of any age could "opt in" for invasive testing. Invasive testing usually refers to either chorionic villous sampling (or CVS) done between 10th and 12th weeks of pregnancy or amniocentesis (aka amnio) usually done at 15-20 weeks of pregnancy.

It was also in 2007 that ACOG began endorsing the use of nuchal translucency (NT) ultrasound, a specialized ultrasound designed to detect Down Syndrome: the tech literally measures a collection of fluid at the back of the growing fetus' neck and gives you a risk score. Turns out that babies with Down Syndrome tend to have more fluid than babies without, so bigger measurements correspond with increased risk.

Chorionic Villous Sampling (CVS) is a test in which a needle is introduced either through the vagina or through the belly to retrieve some actual cells of the placenta (cells that contain the same genetic material as the baby's cells) and then do genetic testing on those cells. Amniocentesis (often referred to as just Amnio) involves a sampling of cells from the amniotic fluid similarly looking for abnormalities. The benefit of both these tests is their accuracy-- upwards of 99%. The downside is the risk, which is a biggie, miscarriage. It's rare, but still quoted at 1in 200 to 1 in 400. Low risk? Yes, unless you are that one who loses your baby.

And now, in 2014, many women can actually choose non-invasive genetic screening, though not quite covered yet by some insurances, certainly quickly gaining speed. These tests look for actual fetal DNA in a woman's bloodstream (imagine that, your baby's DNA is floating around in your bloodstream) and can do chromosomal analysis really early on and really accurately. As I see it, this is the prenatal genetic testing is definitely the screening test of the future: it can be done as early as 10 weeks gestation and it's really really accurate (>99%) for Trisomy (e.g. Down Syndrome). Only downside is it doesn't test for neural tube defects.

The other test not usually considered prenatal genetic screening but that should also be included is what doctors call "The Fetal Survey" and what most families consider "The ultrasound when you can find out whether you are having a boy or a girl." This is an ultrasound done at 17-20 weeks with a special focus on the baby's anatomy (brain, spinal cord, lips, heart, kidneys, etc). While this isn't traditionally included in the umbrella of prenatal genetic screening, it definitely adds credence to the information gleaned through the other tests. It can also be extremely reassuring to a worried family to "see" normal anatomy in their baby.

                                                               ***
Benefits of prenatal genetic screening

• Increasingly prenatal screening options are non-invasive. Previously women had to weigh risk of losing a baby (miscarriage rate in amniocentesis is quoted as ranging from between 1 in 300 and 1 in 500). Not extremely high but unacceptable if it's you it happens to). Now it's just another blood test, and those of you preggos know you get plenty of those during pregnancy.
• Reassurance that your unborn child is normal. As a parent, believing that your child is healthy is priceless. If things come back confirming that, parents feel really really relieved.
• With earlier and better screening, women have earlier and earlier option to terminate an abnormal pregnancy. Terminating a desired pregnancy is never simple-- but the earlier that decision can be made with the most information possible, the easier on the family. 
• Better preparation for child with birth defects (both emotional and medical management). It is hard for me to imagine a more painful situation than an unanticipated sick new baby. I have been in the room when this unwelcome surprise occurs, and it is terribly painful.
• Increasingly, women are delaying childbirth, thereby increasing the risk of children having genetic abnormalities. These women may be particularly inclined to having the most information possible before a pregnancy progresses.

Risks of prenatal genetic screening

• False positives (unneeded anxiety): if you are talking about the standard screening, there are actually MORE false positive prenatal genetic screens than true positives. That means that more people will be told their screen is abnormal and wind up having a healthy baby, than women who are told their screen is abnormal and have a genetically abnormal child.
• False negative (false reassurance): experienced providers have all experienced a family that had genetic screening and still had an abnormal baby, even one of the diseases picked up by the screening. No test is 100%.
• Screening doesn't pick up all conditions (even genetic abnormalities) but particularly those others that are not chromosomal, for example autism, cerebral palsy, and many other relatively common conditions.
• Doesn't predict severity of disease. Some children with Down Syndrome or Spina Bifida are extremely high functioning. Others require lifelong care. These tests don't shed light on the subtleties of your particular child's health issue. This often is difficult to know even after a child is born.
• Recommended follow-up is invasive testing (including amnio/CVS): people often say "Great, why NOT do a non-invasive test? What's the risk?" The big risk is that if it comes back Screen Positive (aka abnormal), the recommendation is still an invasive test, which has risks including miscarriage. These risks are rare, but it doesn't matter if it happens to you. This is actually changing quite quickly, as the non-invasive tests are gaining ground-- so hopefully this risk is decreasing as I write.
• Stress and anxiety: don't underestimate the power of stress. For every pregnant woman I have ever dealt with who had an abnormal screening test, the world falls down around them. They lose sleep, suffer tremendously, until more information is known. Worry and fear are powerful emotions
• Cost: thankfully, here in California, we have an accessible screening program that is covered by

_________________________________
And now, enough about prenatal screening. Back to our original questions that I challenge you to ask yourself for each and every test that is being ordered on your behalf:

1) Should I have the test (i.e. prenatal genetic screening) in the first place?
Ooooh, this is a hard one. I get asked this ALL the time when I counsel my patients through this decision-making process for prenatal genetic screening. There is NO right answer. I generally frame it in this way: For some people, having more information is extremely helpful, it enables them to use that information to activate. For others, having more information is anxiety-producing. Which are you? If the test comes back normal, you will be mostly reassured (though, screening tests are not perfect, and all providers can tell you about the time they delivered a baby that had a normal screen and turned out to be congenitally abnormal. Personally, I can also tell you about the time I delivered a baby that we knew was going to be abnormal and is now an almost 3-year-old normal girl.  This part of the decision is super personal.

2) What exactly does this test tell me?
As I discussed above, screening tests are not the same as diagnostic tests. None of the prenatal genetic screening tests (blood tests, ultrasounds) are going to tell you "what your child has". They will only give you a statistical percentage, that may be reassuring, e.g. as a 40 year old woman, you have a 1/500 chance of having a baby with Down syndrome, but based on this test, your individual risk is actually 1/50,000. This risk stratification can definitely be very reassuring-- but there is no guarantee that you will not be that 1 with an abnormal pregnancy.

3) What would I do in response to the results from this test?
This is a very big an important question when it comes to prenatal genetic screening. Though some might suggest that genetic screening is linked with early pregnancy termination (i.e. abortion), the truth is, there are other choices that families might make based on a genetic screen.

For example,
Some might certainly get a diagnostic amniocentesis, while another family might decide they aren't willing to risk an amniocentesis procedure. 
Someone might choose to birth (or not birth) at home.
Someone might choose to see a different level clinician (e.g. a higher level facility).
Some might prepare themselves emotionally for a special needs child.

Whatever your decision, it's worth it to at least consider how a general results may affect your own decision making. To be fair, it is actually very difficult to predict how individuals might respond to abnormal results until those results are sitting right in front of you.

As usual, mostly I encourage you to have an ongoing relationship with your health care provider, discuss the risks and benefits of any testing you are offered, and please ask questions!D It's your body and your decision, after all.
                        

Additional references:
http://embryo.asu.edu/pages/amniocentesis-prior-1980
https://ohiostatepress.org/Books/Complete%20PDFs/Rothenberg%20Women/14.pdf
www.uptodate.com

What is up with mammogram recommendations?

If you are a woman between the ages of 40 and 50, and you have breasts, you just might find yourself wondering the following: What is up with mammograms? Do I need one or not? Why can I not get a straight answer from anyone? 

And if you are over 50, it's similarly confusing, the question is just slightly different. You know you definitely need a mammogram and you were well-indoctrinated by the medical system and media that you should get one every year, but now you're hearing something different: So, do I need a mammogram every year or every other year?

http://www.idealpharmacyla.com/index.php?id=24

Everyone you know and trust and want to believe is all over the map:

• Your mom (who you definitely love but who drives you a little crazy) calls on your 40th birthday to remind you to get a mammogram ASAP. "It's time, honey, she says, you're 40. Oh, and happy birthday."
• When you finally make an appointment to see your primary care physician for an annual exam, not only does she tell you that you don't need a pap this year (more on this in a different post), she also reassures you, "Things have changed, dear, and you don't actually need a mammogram until you turn 50." Sweet, you think. No cold duck bill in the yoni. And no mammo. Saved.
• Then, while sitting in the waiting room at your kid's dentist appointment, you read a really good article in a trusted magazine proclaiming that Obamacare requires that your health insurance pay for mammograms starting at age 40, every year. Huh, now you're really confused.
• A few days later, your best friend from forever ago calls to tell you she saw a great news special and she has firmly decided she will wait for the boob-squeezing to start at fifty and not a minute earlier. She's going to email you the link. She's sure you'll agree.
• And voila, the next day you get a letter in the mail from the local women's health center saying you are overdue for your annual mammogram.

What the heck?!

When to start mammograms and how often to get them is a super duper confusing, controversial, emotion-packed, historical-political-economical-statistical nightmare. And I will warn you from the start that I am not going to give you a simple answer. There is none. But I do want to walk with you through parts of the story, talk about the recommendations, review the numbers, generate a little discussion, and let you consider what's best for you.

(And stay out of your neighbor's business, she can decide what's best for her).

Let's start with my favorite advisory group, the United States Preventive Services Task Force (USPSTF). They are the ones that have generated a whole bunch of hoopla since their updated breast cancer screening recommendations were released in 2009. As I have explained previously, the USPSTF is a non-industry sponsored group of experts that looks at the best evidence we have for and against certain preventive services (e.g. mammograms) and makes recommendations to the best of their ability.  They make recommendations about HIV screening, colon cancer screening, blood pressure screening, the new lung cancer recommendations (see older post), baby aspirin, and more.

We hope they do all of this grounded in the best available science and as free from bias as possible.

In 2002, the USPSTF was in line with everyone else; they recommended that breast cancer screening (i.e. mammograms) start at age 40 and be done every one to two years.  However, in 2009, after reviewing some newer studies, the USPSTF updated their recommendations, now calling for biennial (that's every 2 years) mammograms starting ag age 50, ending at age 74. For younger women (those ages 40-49), they recommended informed decision making between patients and providers. In other words, according to the USPSTF, while women age 50-74 should get a mammogram every other year, women ages 40-49 should weigh the risks and benefits of screening mammogram and make a decision that feels in line with their personal priorities. Maybe you should, maybe you shouldn't.

Hmmm. . .and so begins the controversy. Or shall I say controversies, because there are two main issues that really set the country off:

1) Mammograms every other year: Before 2009, mammograms were recommended every one to two years, but, on the recommendations of their primary care providers, most women still did them annually. What does it mean to space mammograms out? Does that mean my health insurance won't cover an annual mammogram? What if something is missed? Why have I been told for years that women need a yearly mammogram? Are you denying me the right to know and delaying possible life-saving treatment?

2) Mammograms not automatically recommended from ages 40-49 raised even more concerns: I have friends who were diagnosed with breast cancer in their 40s. What if I am one of those women who is unlucky enough to have breast cancer in my 40s and it's missed? What if I want one at age 40? Why would I NOT want to know? What is my risk?

The updated USPSTF recommendations angered a whole lot of women, the politicians who represent those women, the powerful breast cancer lobby, and several professional medical groups as well. There was a literal revolt. Op-Eds were published in papers all over the country, local politicians held special meetings, breast cancer survivors and their supporters were up in arms.

The new recommendations were especially poorly timed because they were released right smack dab in the middle of health care reform, and many people took this as evidence that the US government was on their way to "rationing" care by limiting women's access to screening. People were worried that by endorsing delayed and less frequent screening, they were being offered second-rate health care.

Notably,  additional powerful groups that make breast cancer screening recommendations include The American Cancer Society, The American College of Gynecologists and Obstetricians, The American College of Radiology, The National Cancer Institute, The American Medical Association, and The American Academy of Family Physicians (AAFP). When the USPSTF took this leap in 2009, all of the other groups stuck to their guns (aka the older recommendations) that breast cancer screening should begin at forty; most advocate that they should still happen annually.

Four years later, the only group that has sided with the USPSTF is the AAFP. The issue is so touchy, in fact, that it is being treaty uniquely during implementation of The Affordable Care Act (aka Obamacare). A  section of the new law requires that all health insurers provider specific preventive health services to all people; those requirements are based entirely on current USPSTF recommendations, with one exception: breast cancer.

Rather than fund screening services based on the updated 2009 recommendation, the only non-current recommendation that will be implemented in the ACA is the 2002 recommendation. Huh. There is even a special asterisk on the list of preventive services saying just this. ("The Department of Health and Human Services, in implementing the Affordable Care Act under the standard it sets out in revised Section 2713(a)(5) of the Public Health Service Act, utilizes the 2002 recommendation on breast cancer screening of the U.S. Preventive Services Task Force").

Now that is power. Some people call this a victory. I call this terribly confusing. After all, if I should trust the USPSTF, the ACA should as well.  If the USPSTF is using good science, and good science has revised the recommendation, shouldn't we be using the revised recommendation?  Or, to the contrary, if the USPSTF is using bad science and the recommendation is bunk, shouldn't it be thrown out?

Certainly makes me wonder  (particularly late at night when I should be sleeping) what is behind all this? It is science? Is it emotion? Is it fear? Is it something else?

So what is up with the USPSTF recommendation? Are they rationing my care? Who should I believe?
In my mind, the USPSTF stands apart from other groups as the least biased advisers we have on many health care issues. Though not perfect, they are probably the best we have. 

Our other options, like those mentioned above, include groups that often stand to benefit, either financially or emotionally from the financial side of that service. For example, we have:

• The Radiologists, who stand to make more money the more mammograms women get AND, to their credit, probably truly believe the more imaging the better (that's their specialty, after all)
• The Gynecologists, who are worried if women don't get an annual gyn exam (including pelvic, pap and mammo), they might run out of things to do and business to keep themselves afloat (they are also believers in what they do)
• The Various Cancer Societies, who rely on the emotional impact of the personal struggles of people with cancer to raise funds for basic science research and services (both good things) but, in so doing, may occasionally forget that there are lots of people who don't have cancer

In an ideal world, all these groups would have your best interests in mind, but in the real world, you have to be a little skeptical. Or at least thoughtful.

Here are 4 questions I would love for you to consider when making your decision about when to start and how often to do a mammograms: 1) Do screening mammograms save women from dying from breast cancer? 2) Is a screening mammogram going to prevent ME from dying from cancer? 3) What's the harm of doing a mammogram earlier (i.e. before 50)? 4) What's the deal between every 1 year to 2 years?


1) Do screening mammograms save women from dying from breast cancer?
 The answer is yes, probably.

If you are a woman between the ages of 40 and 74, screening mammograms have been shown to reduce breast cancer specific mortality. (Remember: Screening means you 1-Don't have additional risk factors (like a personal or family history) and 2- Are having it done when all is well and fine, not when you notice a lump. If you meet either of these criteria, screening goes out the window). It's actually pretty tricky to figure out how much mammograms reduce this risk, but for women ages 39-49, getting a mammogram probably results in 15% reduction in mortality. For women 50-69, getting a mammogram results in about 22% reduction in mortality.

That being agreed upon, one of the most sensitive areas of discussion right now is how to determine whether or not mammograms actually over-diagnose (they probably do) and lead to unnecessary over-treatment. In other words, how do we know whether a mammogram that detects a cancer  is actually detecting a stable cancer that would have stayed static (i.e done nothing) for years?

As physicians, we see a problem-- especially cancer-- and we feel compelled to treat it. This is what most patients want, right? So, what if we never knew that cancer was there (i.e. no mammogram)?  Or what if we diagnosed the cancer and did nothing but watched it?  Without question, nowadays, as soon as a cancer is detected, a woman is immediately immersed in the craziness of cancer treatment. The question that remains is, does she need it?

Remember, breast cancer isolated to the breast doesn't actually kill people; breast cancer that spreads outside of the breast does. We know beyond a doubt that breast cancer kills (in 2009, over 40,000 women died of breast cancer in the US alone). But is all breast cancer the same? Doctors and patients like to assume that by finding cancer in the breast and eradicating it, we are doing a good thing, but some researchers are wondering how true and universal this might be. 

2) Is a screening mammogram going to prevent ME from dying from cancer?
Great question, impossible to know. This question actually begs two further questions: First, am I going to have breast cancer? And will that breast cancer kill me? Remember, there are lots of other ways to die. If you are over 50, odds are you will die of a heart attack. If you are under 30, odds are it will be a car accident.

The older we get, the more likely we are to get breast cancer (see data table). In the US, in total about 130 per 100,000 women will get breast cancer. About 25 per 100,000 will die from breast cancer. Unless you are black. Then  the number is higher: 35 per 100,000. (see graphs). If you live in California, your risk is different of getting and dying from breast cancer than if you live in Texas (see maps).

In medicine, we often talk about how many people we need to test or treat, to get a certain outcome. The is called the Number Needed to Treat (NNT).  The USPSTF uses these statistics in their formal recommendations,  and I think it's helpful to consider them because I am not sure I am in agreement.  From the available studies we have, the number we need to invite to screen (NNI)  to prevent one breast cancer death depends on how old you are:

if you are           this many women your age need to be screened to prevent one death
ages 40-49         1904 women
ages 50-59         1339 women
ages 60-69         377 women

In plain English, 1904 women ages 40-49 need to have a mammogram to prevent one woman from dying of breast cancer. 1339 women ages 50-59 need to be screened to prevent one woman from dying of breast cancer. And in the 60-69 group, 377 women need to have screening  mammograms to prevent one woman from dying of breast cancer.

If you are that one lady that lives, then gosh darn it, you are lucky and you are so happy you were screened. But, remember, overwhelming odds are that you are one of the 1903 others. Or the 1338. Or the 376. But the question I struggle with is whether or not there is really a difference between the 40-49 group and the 50-59 group? After all, there are definitely and without a doubt some women in the younger group who will get breast cancer.

Am I willing to subject 1904 of my patients to mammograms to prevent one woman from dying? I don't know the answer, but it doesn't sound unreasonable. After all, I don't want any of my patients dying from preventable causes. I certainly feel like I should at least offer them the educated choice.

3) What's the harm?
A false positive is a test result that is wrong. The test says you have the disease but you actually do not have it. False positives in breast cancer screening are higher the younger you are.  This is partially because breast tissue is denser in younger women. Also cancer rates are lower. But it's mostly because the more mammograms you have, the more likely someone (i.e. the radiologist)  is going to see something that looks abnormal, call it positive, and recommend follow up.

When screening begins at age 40, the cumulative probability of a woman receiving at least one false-positive recall after ten years is 61% with annual and 42% with biennial screening.  The cumulative probability of false-positive biopsy recommendation is 7% with annual and almost 5% with biennial screening (see this citation for more specifics, you nerds).

So, if you get your annual mammogram, there is a 60% chance in the next ten years that you will have an abnormal result that will turn out NOT to be cancer but will likely stress you out, require follow-up appointments and decrease your quality of life temporarily. There is a 7% chance you will wind up with an unnecessary biopsy.

There is a lot of debate about how disruptive these false positives are and whether or not they actually matter to women. In fact, more than once, I have had patients follow up after a false positive result proclaim something like, "I am so glad I had this done!" That woman feels relieved and happy to have been told something was wrong and then, upon further consideration, to be reassured. This is odd. The end result would have been the same with or without the mammogram (she doesn't have breast cancer) but somehow going through the test, getting a positive result, having follow-up testing, and then getting good news, has some people coming out the other side feeling well-taken care of. 

Is this our goal? Should it be? 

Is more better?

http://www.cfhi-fcass.ca/publicationsandresources/Mythbusters/ArticleView/08-07-01/f701d4d0-53b8-4bad-bbca-a370194455ec.aspx

Don't forget, the other harms of mammography include radiation (the equivalent of 15 chest xrays, that's WAY less than a CT scan) and pain (many patients really hate the boob squeezing component of mammograms), copays (though those should be disappearing with the ACA implementation), cost to the health care system (billions of dollars) time away from work for appointments, stress about the test itself, and more. 

Nothing comes without a cost.

4) What's the deal between every 1 year to 2 years?
If you are between the ages of 50-69, the evidence shows fairly convincingly that there is no increased risk of missing something by spreading out your mammograms to every two years. This applies even if you are on hormone replacement therapy or have dense breasts. You may still be getting a letter from your local radiologist that you are due for your yearly mammogram, but take a moment to reconsider before you pick up the phone and schedule your appointment. You are probably doing yourself a greater favor waiting for another year to pass by.

The story is only slightly different for younger women. If you choose to start earlier screening between ages 40-49 and have extremely dense breasts (about 12-15% of women in this age group meet this criteria), then biennial screening probably does have an increased risk of missing something. Ask you radiologist where your breast density falls. Then decide if you should be having annual versus biennial screening. Remember, 85% of women in this category should be able to comfortably do mammograms every two years and feel confident that are fulfilling their preventive health goals. (You may reference this article for more details). Also please remember, the more often you have mammograms, the higher your risk of your false positives. This may be a risk you are more than willing to accept.

This is a really really good time to talk to your primary care provider. Weigh the potential risks with the benefits and make a decision that feels right for you. Sorry for the complexities. Thanks for sticking in to the end. Ultimately the decision is yours.

_________________________________________________________-

Additional references:
http://www.nytimes.com/2013/04/28/magazine/our-feel-good-war-on-breast-cancer.html?pagewanted=all&_r=0
http://www.aafp.org/afp/2012/0115/p176.html
http://jama.jamanetwork.com/article.aspx?articleid=1722196
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699693/#!po=52.5000
http://online.wsj.com/article/SB10001424127887323539804578260241902140764.html
http://annals.org/article.aspx?articleid=474984
http://www.ncbi.nlm.nih.gov/pubmed/17404352
http://www.ncbi.nlm.nih.gov/pubmed/22037165

The Newborn Hearing Screen

Friends of mine from college have two beautiful daughters, ages four and six. We spent the weekend with them recently, and my husband and I took great pleasure covertly listening to the six-year-old reading to our preschooler. She is a bright and eloquent first-grader, and one would never guess in a thousand years that she has mild-to-moderate hearing loss. This is why: her hearing loss was detected on routine screening when she was just one day old. It was picked up so early that she was given speech, language, and audiological support (including weekly home visits, baby groups, and even  hearing aides) by the age of six months. I distinctly remember sitting at our dinner table almost five years ago watching her father sign the letters of words so she could "spell". She recognized the entire alphabet in sign, and it was a great party trick to have a one-year-old verbally spelling D-O-G-G-Y and T-A-B-L-E.

To her parent's surprise, her little sister was diagnosed with almost the exact same hearing loss two years later, also after being screened at the hospital where she was born. Both girls have been getting amazing support from the county Early Start Program since before they could sit up. And thanks, in large part, to early diagnosis and intensive interventions, they are both wonderful communicators!

http://blogs.rch.org.au/ccch/files/2011/08/BDP_2660.jpg

These little girls are the inspiration for this post about Early Identification of Hearing Loss and the Newborn Hearing Screen.

National attention for newborn hearing evaluation peaked after the 1993 National Institutes of Health (NIH) Consensus Development Conference on Early Identification of Hearing Loss. This was a group of experts including otolaryngologists (aka Ears, Nose, & Throat doctors/ENT), speech and language therapists, audiologists, neurologists, speech pathologists, nurses, pediatricians, and more who came together to digest the science and make formal recommendations about why, when, how, and who to screen for childhood hearing loss.

What came of the Consensus conference were formal recommendations to implement 1) universal newborn hearing screening for all babies born in the U.S. 2) early intervention programs for those children identified as hard of hearing.

Hearing loss is actually one of the most common congenital birth defects, affecting 2 to 3 out of every 1,000 children. More than 50% of hearing loss is thought to be genetic.

At the time of the conference in 1993, the average age of diagnosis of hearing loss in children was three years of age. We know that language development literally starts as soon as a baby lands on this planet, and the most critical period of language and speech development is actually the first three years of life. Animal studies have shown that auditory deprivation during this time (i.e. not allowing animals to hear during the first years) actually interferes with the neuronal infrastructure, literally messing up the development of speech and language brain cells.

In other words, "You have to use it [your ears] or lose it [your hearing, speech and language]."

So, if congenital hearing loss wasn't being picked up until, on average age three years, and age zero-to-three is the most important period for speech and language brain development, we were missing a very serious window of opportunity to maximize a child's auditory potential. Especially because there are good studies that show that addressing hearing loss early does improve communication for the rest of that child's life.

Thank goodness, there has been remarkable progress.

Since 1993, all 50 states and the District of Colombia have established early hearing detection and intervention (EHDI) laws or voluntary compliance programs. Thirty-six states (including California) have legislated that hearing screens be performed at the time of birth in hospitals and birthing centers.

California's newborn hearing screen program started in 1998. Previously in California (and many other states) only "high risk" infants were being screened ("high risk" meaning babies who spent at least two days in the neonatal ICU-- these little guys actually have a 10-fold increased risk of being hard of hearing, those with structural skull or facial abnormalities, or those that had a family history of hearing loss). By screening only "high risk" babies, almost 50% of hearing loss was being missed at birth. 

The National Center for Hearing Assessment and Management reports that detecting and treating hearing loss at birth for one child saves $400,000 in special education costs by the time that child graduates from high school.

http://www.speechbuddy.com/blog/wp-content/uploads/2012/07/Baby-with-Hearing-Aid.jpg

Okay, let's do some math: with 550,000 babies born in California each year, it is estimated that annually 1,100 children will be identified as hard of hearing by the CA newborn screen. Screening in California currently costs $30 per child. That means the system spends $15,000 per year per child diagnosed with hearing loss (550,000 x 30/1100); yet early screening has been shown to save $30,000 per year per child (400,000/13 (K-12= 13 years of public education spending)). Final calculation: $30,000-15,000=$15,000. By paying up front and screening babies early, we are saving the system $15,000 per year for each child with hearing loss.

Isn't that cool?! Not only does screening improve a child's quality of life, it actually saves the system money! 
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How is the newborn hearing screen done?

There are actually two different ways to do a hearing screen:
1) Automated auditory brain stem response (ABR): the newborn's ears are covered with big headphones that emit a series of clicks. Electrodes placed on the baby's neck and forehead, measure brainwave responses to the clicks in the baby's brainstem. The computer compares those responses to "normal" responses and spits out a "pass" or "fail" report. See the video here.
2) Evoked otoacoustic emissions testing (EOAE) tests the cochlea, the part of the ear most involved in what is called peripheral auditory system. A small microphone is placed in the baby's ear canal and tests the cochlear ear cells echo response, also to clicks. Just like ABR, the computer generates a "pass" vs. "fail" report.

Both tests are relatively quick and easy and can be done within minutes on an alert but quiet newborn baby.

As I have mentioned in previous posts, there is almost always a downside to screening tests.The downside in the case of the newborn hearing screen is the potential for a large number of false positives. This means that many children who initially "fail" the screening test will actually wind up having normal hearing. Super stressful if you're a parent worried that your child might be hard of hearing. In fact, the rate of false positives is as high as 30% (i.e. 3 out of 10 "fails" will actually turn out to pass) if the test is done only one time; the number comes down to about 1%  (1 in 10) if a "failed" test is repeated. So any time a baby doesn't pass initially, it's standard to repeat the screen as a double check. False positives can cause stress and anxiety for families during what is often already a stressful time; however, the risk associated with further evaluation is minimal (no invasive testing, no radiation), so I think it's probably worth it.

For those families who choose to have a birth center or home birth, the newborn hearing screen is still available to you through what are called "outpatient testing centers". Here is the link for all the California outpatient testing centers; those of you who live in other states should be able to ask your local hospital where the testing is available. It is covered by most insurances and Medicaid. 

What happens if a baby does have hearing loss? 

If a baby "fails" one of the screening tests, then  the test is repeated. If the baby "fails" a second time, he/she is referred on for diagnostic testing and genetic evaluation. This has been shown to get the age of initiation of hearing aides down to about six months (Just as happened in the case of my friends' girls).

The goal of programs for early detection of hearing loss is to have a diagnosis in infants (before three months) and initiate services by six months of age. As happened for my friends, babies who don't pass the initial screen are referred onto diagnostic testing (Remember the difference between "screening" and "diagnosing": screening is meant to pick up anyone who MIGHT have the condition; diagnosis is meant to confirm of those picked up who ACTUALLY has it).

Babies who receive a diagnosis of hearing loss are referred to what in California is called the Early Start Program. But, don't fret, every state has a program for children ages 0-36 months who have a developmental delay and meet specific requirements. Check this site out for more information on the programs in your state.

Here is the important message: ANYONE can make a referral to Early Start, including parents, medical care providers, neighbors, family members, foster parents, and day care providers.

I was at the park just this week talking to a mother who was frustrated because she had broached the topic of her child's speech delay to her pediatrician, who then reassured her rather than referring her son for an evaluation. She continued to be convinced that her son needed some extra help and ultimately did the mama-bear thing and called herself. Please ask your primary care provider for guidance, but, seriously, if you don't feel like you are getting the help you need, trust your intuition. You can call yourself. The number for Early Start Services in California is (800)515-BABY.

What happened to my friends' little girls after they turned 3?
After our protagonists graduated from the Early Start Program at age three, these little ladies found themselves at the Jean Weingarten Peninsula Oral School for the Deaf (JWPOSD), a nurturing and rigorous environment that expanded on their early intervention and really got them ready to attend their local public school. Their mom told me, "JWPOSD not only taught the kids to listen and talk, but also to think."  When the now-six-year-old's kindergarten teacher sent her mother a video of her sharing an "All about me" poster in front of 20 non-hearing-impaired classmates, her mom sent the video on to some of her former teachers and therapists. They were absolutely thrilled that the shy child they had taught was so expressive and confident. Success!


 (On a random note, 70% of acquired hearing loss (i.e. hearing loss that wasn't present at birth but developed over time) is picked up by PARENTS. Please take note, providers, parental concern should be enough to merit evaluation. And parents, don't be afraid to speak up to your primary care provider!)


Additional references:
http://www.ncsl.org/issues-research/health/newborn-hearing-screening-state-laws.aspx
http://www.infanthearing.org/screening/index.html
http://www.aafp.org/afp/2007/0501/p1349.html
http://consensus.nih.gov/1993/1993HearingInfantsChildren092html.htm
http://www.asha.org/Advocacy/Issue-Briefs/

Do I really want to know? How will knowing be helpful?

This is my question to you:  Do you want to know?

You say you do. You may think you do. But, do you really?  Do you really really want to know?

This may seem like a trick question, but I am not being sly. I promise. Let's be clear here. This is your body, your health, your life, not mine.

And before we proceed, one word of warning: once you know, you cannot un-know. 

If after pausing a moment to ponder the question, you are now leaning in the direction of answering something to the tune of, "Yes, insanely weird doctor, I definitely always want to know. Please order the test."-- then please now ask yourself a few follow-up questions.  Will knowing be helpful? What if it comes up positive? Or negative?  Can I do anything with the information? (Other than stay up at night worrying and/or searching the Internet for an answer). Will it change the outcome? Does the information give me options? And perhaps most importantly: Will it make my life longer and better and richer and fuller?

Patients often look at me like I am totally insane when I ask them the 'do you want to know' question-- as though knowing is always better than not knowing. Just today, my patient looked stunned when I questioned her request for an imaging study of her brain. She looked at me suspiciously (as though I was suggesting we maybe sacrifice her dog) and asked, "What do you mean there could be something inside of me that I don't want to know about? How in the world could knowing make things worse?"

Many of us assume that all medical information equates to useful information. And perhaps, even more tightly embraced is the notion that the more medical information we have, the better off we are. This is deeply embedded in our American ethos and exemplified by our outrage that there is actually a waiting period in Canada to get an MRI.  As your clinician, I want to challenge this notion.

Yes, medical information can be amazingly powerful (e.g. Congrats, you're pregnant! No, you don't have HIV. You are cancer free. Your heart is working just fine). However, medical information is not always useful--and, I would argue, it can even be remarkably unhelpful.

There are two reasons I encourage you to be careful about what you ask for: First, you might find out something you don't actually want to know and second, what you find out may not matter at all.

Hear me out:
1) Incidentalomas: Yes, definitely looks (and sounds) like a fake word, but believe it or not, this is actually a term we use with some frequency in medicine. Incidentalomas are things "incidentally found" when we are looking for something else-- often the result of an imaging study like a CT scan or an MRI scan. In other words, we found something we weren't looking for.

Consider this example:  Dr.Careful wants to be sure his patient, Lina, doesn't have appendicitis, so he orders a CT scan of her abdomen. Thankfully, the CT scan confirms that Lina's appendix is totally normal, and she is able to avoid surgery. However, in the scan report, Dr. Careful discovers that Lina has some funky little blip on her kidney. Now what? Is the blip causing her pain? Is it cancer? Is it important? Who the heck knows?!?

Occasionally incidentalomas are blessings-- because we find a tumor that would have taken a long time to appear and is still in its early stages, so treatable or curable. However, more often, incidentalomas are just pains in the rears. We (clinicians and patients)  feel compelled to investigate further that silly little incidentaloma, which often means more tests, more imaging (i.e. more radiation exposure), and even unnecessary surgery. And often, the incidentaloma would have just lived happily ever after tucked away in our belly never causing problems. Here is a great case in point written in the NY Times awhile back. Interestingly, in the end, the columnist doesn't complain about how he had unnecessary surgery. Instead he marvels about a greater "appreciation for the glory of life". I don't know about you, but I'd hope to be able appreciate the glory of my life life sans unnecessary scans and definitely without unnecessary surgery!

2) True positives that we don't actually care about. The example that always comes to my mind for this phenomenon is that of prostate cancer (more on PSA in another post). But for now, you should know that somewhere in the ballpark of 60% of men after age 60, 70% of men after 70, 80% of men after 80, and 90% of men after 90 will have prostate cancer. Did you catch that? That is, if you open up a 90-year-old man's body after he dies from whatever cause, you will find that he has actual real live cancer in his prostate. The numbers are impressive! 

However, the numbers of men for whom prostate cancer causes death or even illness is much much lower. Though 1 in 6 men will be diagnosed with prostate cancer in their lifetime, only 1 in 36 will die from prostate cancer. A recent 2012 study  randomized 731 men with localized prostate cancer to radical prostatectomy (i.e. really big surgery with lots of side effects) versus observation (i.e. just watch and wait, no surgery). They found NO difference in the numbers of men who died. None. In this study, in fact, only 7% of men with known prostate cancer (in both groups) actually died as a result of prostate cancer, and it didn't matter if they were treated or not. This begs the question, did knowing and treating prostate cancer improve these men's lives? Did it make them healthier and happier? Was knowing better?

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Okay, enough blathering for now. You get my point, I hope. What I want you take home is that the decision to take a test or have a scan is not a black or white one, but rather one that requires communication with your provider and the ability and space to ask some serious questions. I am not saying don't get the test, I am only asking you to be an empowered patient and ask yourself and your clinician two questions, "Do I really want to know? How will knowing be helpful?"


In case you are interested, here is a quick list of tests that I would want to talk about with my patients before ever ordering or even considering. Certainly doesn't mean I would NEVER order them as a physician (there are clear times and places when these tests are super important) or never get them as a patient, but I would just be mindful before taking the leap:

1) MRI of the back for low back pain (Unless you have clear neurological symptoms, routine MRI has not been shown to improve patients' health) more info
2) CT scan of the belly (especially for vague reasons, You should know that a single CT scan of the belly = 769 chest x-rays of radiation exposure!) more info
3)  PSA (prostate specific antigen, controversial screening test for prostate cancer for men, touched on above) more info

4) Prenatal genetic screening (tests women get in first and second trimester of pregnancy, offered to all pregnant women) more info
5) HPV testing (in the presence of a normal pap smears--26% of us will test positive. That's a lot of partner disclosing!) more info
6) Genital herpes blood test (1/6 of us will test positive!) more info

Each of these examples could be a post in and of themselves. And time, allowing, I promise to write on each of these. For now, I welcome your thoughts and your questions.

Lung Cancer Screening?

More people in the US die from lung cancer than any other cancer. Yup, it’s true. Our number one cancer killer is not breast or prostate cancer (#2, for women and men, respectively), not colon cancer (#3 for both) or skin cancer (doesn’t even make the top ten). In fact, the lung cancer mortality rate (the number of deaths per 100,000 people) is more than double the rate of the number two cancer killers. Just to give you an idea, in the US in 2009, there were 205,974  people diagnosed with lung cancer: 110,000 men and over 95,000 women. In that same year, 158,000 people died of lung cancer.

This means that most of us know someone who has had lung cancer. Don’t you?

When I was thirteen, my godfather (a career bus driver for Golden Gate Transit and gifted salmon fisherman) died just three months after being diagnosed with lung cancer. He was a lifelong smoker. Almost ten years later, my mother’s mentor (a grandmother-figure for me) also died less than six months after being diagnosed. She was a prolific artist and a retired kindergarten teacher; she had been a smoker for over 40 years but had quit about 15 years before her diagnosis.

As a family doctor, I see lung cancer with some frequency. Just last week,  I was working at the hospital and a healthy 50-ish woman came in after several months of feeling short of breath. She, too, had been a long-time cigarette smoker but had quit eight years ago when her own mother died of lung cancer. Because she had no health insurance (cue for another post: uninsured in America),  her family doctor tried to avoid an expensive evaluation (a single chest radiograph can cost over $150), treated her for bronchitis, pneumonia, then COPD (chronic lung disease from smoking). Eventually, an x-ray showed an unmistakable lung cancer.

Last year, one of my favorite patients, a garrulous retired umpire and amateur historian who always had at least one joke for me during our clinic visits (usually clean jokes but occasionally a little off-color) passed away from metastatic lung cancer. Amazingly, he survived for more than 18 months after his diagnosis and was able to get a few things ‘in order’ before he died. Most important to him was  to donate his body to a medical school so that medical students could learn from him . And he did it! (cue another post: body donation)

And, in the plus column of cancer advances, also last year, one of my dearest patients was actually declared ‘cancer free’ from his inoperable lung cancer five years after he went through intensive chemotherapy and radiation.

Unfortunately, most everyone you or I have ever known with lung cancer has been really quite ill by the time they were diagnosed. (Studies show that 75% of people with lung cancer present ill with metastatic and/or incurable disease at time of diagnosis). And, unlike breast cancer (though, mammograms aren’t perfect-- another future post: mammograms) and cervical cancer (pap smears and HPV testing have revolutionized us: pap smears), historically we just haven’t had good ways to screen ‘healthy people’ for lung cancer.

Well, the new news in lung cancer is maybe times are changin’.  

We may actually start screening our highest risk patients for lung cancer. Soon.

Just to be clear remember that a SCREENING test is a test of totally well person to ‘screen’ for a disease, while a DIAGNOSTIC test is as test on a patient who comes in with symptoms (e.g. cough, weight loss, etc).

Just this week the United States Preventive Task Force (USPSTF-- you should know that  the USPSTF is one of my favorite go-to bible-sources. I consider them one of the most unbiased, non-partial, uninfluenced by finances official body who makes recommendations about various medical conditions) put out a DRAFT new recommendation, updated from their previous recs in 2004, in support of annual lung cancer screening, using annual low dose CT scans, for people ages 55-79 who have at least a 30 pack year smoking history (and have smoked in the past 15 years).

Why did they make this change?

There have been seven studies in the last 15 years looking at low dose CT scan screening for lung cancer. The largest, the National Lung Screening Trial (NLST) published in 2011, looked at 53,454 current or former smokers. This study showed that patients getting a low-dose helical CT scans  every year for three years had a 20% lower risk of dying from lung cancer  (and  a 6.7% lower risk of dying from all causes) than people who received chest X-rays every year. They reported that we need to screen 320 patients one time with a CT scan to prevent one lung cancer death. (This is called the NNT) Of note, three smaller European studies (all with under 5,000 patients) patients found no benefit to screening.

What does this mean for me?

Well first, off, I will stick with a hard party line. If you don’t smoke, don’t start. If you do, then quit. Now. Then you hardly have to worry about this stuff! However, if you are between the ages of 55 to 79 and are either a current smoker (for at least 30 pack years) or quit in the last 15 years, you might want to talk to your primary care doctor about getting a low dose CT scan. Remember, there is still radiation involved and no test is without risk The good news from a financial perspective is that the current ACA (Obamacare) agrees to cover All Grade A and B recommendations, so this study should be covered if you have health insurance (including Medicare, CMSP, MediCal, etc)

What are the risks?

Radiation exposure: radiation associated with one low dose CT ranged from 0.61 to 1.50 mSv

False positives: remember not every test result that comes back bad means there is something bad actually happening. This is one of the trickiest areas of medicine because people really want to trust tests, but tests are not perfect.

False reassurance: Screening tests don't necessarily pick up every cancer either, so just because your CT scan was normal doesn't mean you don't have cancer (yup, that's an uncomfortable one to swallow).

Overdiagnosis: Just like with other types of cancers (and even less worrisome illnesses like herpes or strep throat), the more we screen for the things, the more we find. We may find that some lung cancers picked up screening would have never progressed to make anyone sick, but it would be impossible to tease that out.

How does this change the game?

In two major ways: 1) If the USPSTF rating remains at B, then lung cancer screening will join other common cancer screenings (like breast and colon cancer screening) as covered entities under the Affordable Care Act (i.e. it will be covered by your health insurance) and 2) Smokers are going to get quite a few CT scans in their lifetime.

So, I have a better idea, how about you just put out that cigarette and call it quits, keep yourself out of this risk pool and call your mom?

Reference:

http://www.cdc.gov/cancer/lung/statistics/

http://sonoma.networkofcare.org/ph/indicator_detail.aspx?id=lung_canc_in&c=7

http://apps.nccd.cdc.gov/uscs/toptencancers.aspx

http://annals.org/article.aspx?articleid=1721248