Sunday, March 29, 2015

Why did 39 year old actress Angelina Jolie have her ovaries removed?

The news was shocking. Famous Hollywood actress has major surgical procedure to reduce her risk for getting cancer. Why did she do this and what else can we learn from this?

 
In 2013, Angelina Jolie had bilateral mastectomies with reconstruction. After battling ovarian cancer for years, Jolie's mother died at age 56. Jolie has lost her mother, aunt and grandmother to cancer. In 2013, she tested positive for a genetic mutation called BRCA1 (1). ("pronounced braca-1") . Patients with this mutation have a very high risk of developing breast or ovarian cancer. If someone with this mutation does not have cancer, they still need to be followed closely by specialists to monitor for early signs of possible cancer. Sometimes these patients take medication or even have surgery to reduce their risk of developing cancer (called "risk-reduction" surgery). This is why Jolie had both breasts removed. Her risk of breast cancer was about 90% due to the BRAC1 mutation and she wanted to prevent this from happening.
 
In her recent article published online last week, Jolie reveals that as far back as 2013, she knew that one day she would need to have her ovaries removed also. Her decision to do this surgery now was based on some blood work that showed positive markers in the blood that were interpreted as possibly pre-cancerous. But Jolie cautions that all women with BRCA1 do not need to do this surgery. In consultation with her surgeon, her choice was based on a combination of her strong family history of cancer, including ovarian cancer, the fact that her mother was diagnosed at age 49, plus the presence of these newly discovered markers in her blood. Luckily, her tissues were negative for any signs of ovarian cancer.

 

There are other mutations that increase the risk for cancer

Myriad Genetics, Inc., the originator of the BRCA1 and BRCA2 DNA tests (1) has been testing patients for these mutations for years but they have also been doing research on other DNA mutations that increase the risk for cancer. Lynch syndrome causes a high risk for colon and uterine cancer and is caused by a genetic mutation. Other mutations are known to increase the risk for melanoma, prostate and pancreatic cancers and others.
 

Why are these mutations so scary?

Cancer causing mutations are inherited as autosomal dominant. This means that even one mutation from one parent is enough to cause actual or potential harm. Most mutations we know about are autosomal recessive and those are harmless when someone inherits just one (cystic fibrosis mutation for example). Recessive mutations still can cause serious disease, but only when a person inherits two of them (one from each parent). It only takes one autosomal dominant mutation from one parent to lead to real or potential disease.
 

myRisk - a new test for cancer-causing mutations


Myriad has developed a new blood test, called the myRisk Hereditary Cancer panel, that can check for many different autosomal dominant mutations, all of which are known to increase a person's risk for up to 8 different types of cancer (2). This test is called the myRisk™ Hereditary Cancer panel**.
This panel includes the tests for BRCA1/2 and Lynch syndrome but adds other tests, increasing the likelihood of discovering if someone is carrying a mutation that increases their risk for developing certain types of cancer.

Before the myRisk test, patients with a family history of breast or ovarian cancer would get tested for BRCA 1 and 2 and patients with a family history of colon or uterine cancer would be tested for Lynch syndrome and that was it. But inherited genetic risk for cancer is much more complicated than this.

Myriad has learned that there is a lot of overlap. Seven per cent of patients who qualify for BRCA1/2 testing also qualify for Lynch testing, and 30% of patients who qualify for Lynch testing also meet the criteria for BRCA1/2 testing. If you tested these patients for just one of the two genetic conditions, you might not even know that they were carrying the other one. This would result in what is known as a False Negative test.
 

False Negative Equals False Sense of Reassurance

A false negative test is one of the worst types of medical tests. This is when a person has a known condition but when we test them for it, the test comes back negative. When a patient tests negative for a scary condition, there is immediate relief for both the patient and the doctor, but if the test is a false negative, this is not a good thing. This provides a false sense of reassurance because the patient will not be sent for any additional testing or monitoring, potentially allowing their undiagnosed condition to worsen and progress.

Imagine that you suspect an intruder is hiding in your home. You hire a professional to search your home and are told that the "coast is clear." But the professional did not search insider your guest shower stall. If this is where the intruder happened to hide, then the search was a false negative. Or maybe there was no intruder there at all? The only way to know for sure would have been to perform a better search.
 

Who should consider having this Hereditary Cancer test?

Due to the high cost of this test, only people with a family history of specific types of cancer are considered candidates at this time. *(includes breast, ovarian, colon, uterine, melanoma, pancreas, stomach and prostate). The cost for this test today is the same as the cost in the past for just the BRCA1/2 test and Myriad is confident that most major insurance providers will cover this cost. It is much more cost effective to prevent cancer than to treat it!
 
If any of the following situations apply, Myriad labs would recommend the myRisk test: 
  • Two or more relatives on the same side of the family with any one of eight types of cancer (2)
  • One relative under age 50 with breast, ovarian or colon cancer
  • One male relative with breast cancer
  • Relatives includes parents, children, siblings, aunts, uncles, first cousins and grandparents
If a patient tests positive for a cancer-causing genetic mutation, Myriad's report provides a great deal of information about the test, the condition itself, the person's predicted risk and also medical management for surveillance and cancer risk reduction. If someone tests positive for one mutation, their close relatives also should have the test done.
 

Online Risk Assessment Tool

Dr. Bryan Jick
Myriad provides a quick online tool that you can use to check your risk for having one of the cancer-causing autosomal dominant mutations tested for by the myRisk test. If you use this online tool, you can print the results yourself, or choose to submit them online to Dr. Bryan Jick at Fair Oaks Women's Health in Pasadena, California where you can get the myRisk test done, Monday through Friday, 8 am to 4 pm, by appointment. Please call Fair Oaks Women's Health at (626) 304-2626 and ask for a cancer risk assessment appointment with our Nurse Practitioner.
 

Conclusion

Many of us have a family history of cancer. We wonder if we are going to get cancer ourselves. Now there is an online screening tool and a useful blood test to help us determine if we are at increased risk for certain types of cancer. If we test positive, there are many cancer-prevention, risk-reduction and monitoring options available for us, which will be included in a detailed scientific report provided by Myriad Genetics.
 
Notes
1. The genetic basis of HBOC is a germline (inherited) mutation in either the BRCA1 or BRCA2 genes. Normally, the proteins produced by the BRCA1 and BRCA2 genes prevent cells from becoming malignant by aiding in the repair of mutations in other genes through a process known as double-stranded DNA repair. Therefore, an inherited mutation in either of these genes, also known as tumor suppressor genes, greatly increases the probability of malignant transformation and cancer.   Approximately 7% of breast cancer and 11 - 15% of ovarian cancer cases are caused by BRCA1 or BRCA2, which are inherited in an autosomal dominant pattern. When assessing hereditary cancer risk, a patient's personal and family history is collected to investigate the risk for HBOC. Once a patient is identified as being at increased risk of HBOC, genetic test results provide the most accurate means of cancer risk assessment for a patient.
2. Myriad myRisk™ Hereditary Cancer panel is a scientific advancement revolutionizing hereditary cancer testing. Blending both genetic test status AND personal cancer family history, Myriad myRisk hereditary cancer panel represents the next generation of hereditary cancer risk testing. Myriad myRisk identifies elevated risk for 8 important cancers (includes breast, ovarian, colon, uterine, melanoma, pancreas, stomach and prostate) by analyzing multiple, clinically significant genes. Additionally, Myriad myRisk provides a summary of available medical society guidelines to help you optimize your patients' medical management. Be confident you know your patients' cancer risks and appropriate follow-up management with Myriad myRisk Hereditary Cancer. 

Thursday, November 15, 2012

New Guidelines for Newborn Circumcision

 On August 27, 2012, the American Academy of Pediatrics (AAP) released a new Policy on Circumcision (1)

According to the NEW AAP policy: “…the health benefits of newborn male circumcision outweigh the risks…” The specific benefits identified included prevention of urinary tract infections, penile cancer, and transmission of some sexually transmitted infections, including HIV.”

Happy Baby
In the 1980’s, newborn circumcision was performed on more than 80% of all newborns. Now the rate is down to about 55%. One major reason for the large drop was the widely distributed and publicized policy, released in March 1999 from the American Academy of Pediatrics. At that time, according to the AAP, the risks of circumcision did not justify the benefits.

Thus, even in 1999, the AAP acknowledged that there were benefits to newborn circumcision, but they felt that the decision was not really a medical one since there were also minor risks. This took the medical profession out of the decision-making process. Parents were told that they had to choose or not choose the procedure based on other factors such as cultural, religious or personal preference.

What are the benefits of newborn circumcision?

Recent studies (2) have confirmed that circumcised newborn males are less prone to urinary tract infections (UTI’s) infections during their first year of life. A UTI occurs in 1% of all uncircumcised male children under age 1 and the reduction of UTI was from 3-10 fold in circumcised males (from 14 in 1000 to 2 in 1000).

Circumcision also protects males from three different sexually transmitted diseases (STD’s). It turns out that uncircumcised males have twice the risk of acquiring HIV, herpes (HSV) and human papillomavirus (HPV) as adults compared to circumcised males.

What about the risks of the procedure?

A common reason given not to perform a circumcision was concern about future diminished sexual sensation in circumcised males. This is not easy to study, but in a review of the literature (according to the NEW AAP policy): “There is fair evidence that no significant  difference exists between circumcised and uncircumcised men in terms of sexual function.”

The rate of complications of this minor procedure is quite low, on the order of 1 in 500 procedures. Bleeding, the most common complication, is usually very minor and easily treated. The rate of serious complications, such as penile injury, was less than 1 in 2,500 cases.

The AAP did not go so far as to advocate that all newborn males should have a routine newborn circumcision. But, the new policy is a significant change in direction for the organization and thus for the medical profession as well.

What about pain medication?

For many years, the policy has been to use some type of injectable pain medication such as lidocaine during newborn circumcision. The NEW policy supports this as well.

Summary

Newborn circumcision is a safe procedure. It can be performed quickly and nearly painlessly, normally taking place in the hospital soon after birth. There are proven benefits to newborn circumcision and when compared to the rare risks, we feel that these benefits outweigh the risks. We therefore advise our patients to strongly consider having their newborn males circumcised.

1. AAP CIRC Policy Statement

2. AAP CIRC Technical Report


Tuesday, October 16, 2012

Mammograms and Breast Density


October is Breast Cancer Awareness month. According to the American Cancer Society, in 2011 there were estimated to be 230,000 new cases of breast cancer and about 40,000 deaths from breast cancer. In 2008, more than 2.6 million living women were breast cancer survivors.

One thing we know quite well is that mammograms are an important tool in the early detection of breast cancer. With early detection, there is a far greater hope of catching the disease in its early stages where treatments can be less invasive (lumpectomy rather than mastectomy, for example) and where there is a higher chance of curing the disease.

But what is not well known is that in women with dense breast tissue, mammograms miss more cancers than they detect! In August, 2012, the National Cancer Institute (NCI) released a study of 9,000 women with breast cancer. Although they found that having denser breasts did not result in a higher mortality from breast cancer, data from this study demonstrated that while about 75% of study participants with the densest breasts had a mammogram within the previous two years, mammograms only detected about 25% of the cancers. Only 1 in 4 cancers in those women with dense breast tissue were found by mammogram alone.

Other facts about breast tissue density:

  • Breast density is a more significant risk factor than having a first degree relative (mother/sister) with breast cancer
  • Breast density is one of the strongest predictors of the failure of mammography to detect cancer
  • Cancer recurrence is four times more likely in women with dense breasts
  • A January 2011 study by the Mayo Clinic found that in women with dense breast tissue, 75 percent of cancer is missed by mammography alone (same as in the 2012 NCI study above) 
What is breast density?
Most of the tissue in the female breast is fatty tissue which is soft. X-Rays penetrate fatty tissue with ease (showing black or grey on imaging) and since breast cancers show up as white specks on mammograms, they are easier to detect when there is more fatty breast tissue present. Dense breast tissue is when there are more glands and fibrous tissue relative to fat. Dense breasts are harder to read on a mammogram because the dense tissue shows up as white, the same way a tumor does.

Most women do not know their own breast tissue density, but this changing. So far there are 6 states that legally require radiologists to report on breast density when they interpret a mammogram. Informing women about their breast density has been the law in Connecticut since 2009.  Recently published results from the Connecticut experience have shown that early detection of breast cancer in women with dense breast tissue has DOUBLED in Connecticut since the passage of this law. (Click here for more information).

New Law in California
California is the 6th and newest state to adopt this type of law (which takes effect April 1, 2013). On September 22, 2012 a press release announced that “Governor Jerry Brown has signed a bill to improve breast cancer detection in women with dense breast tissue. Senate Bill 1538, authored by State Senator Joe Simitian (D-Palo Alto), will require that following a mammogram, women with dense breast tissue be informed of the following:

  • They have dense breast tissue;
  • That dense breast tissue can make it harder to evaluate the results of a mammogram;
  • That it is associated with an increased risk of breast cancer;
  • That information about breast density is given to discuss with their doctor; and
  • That a range of screening options are available.”
Screening Options for Women with Dense Beast Tissue (DBT)
The best option for screening for early detection of breast cancer in women with dense breasts is to use some type of breast ultrasound. MRI has been used for this as well, but MRI is very costly, as high as $1,500 to $2,000 for a single exam and MRI has a high rate of false positive findings.

Breast ultrasound is not a new technology but to date is used almost exclusively as a diagnostic test. Basically, women with a palpable lump or lumps will have an ultrasound of the palpable areas to determine if those lumps are simple cysts, fibrocystic changes or suspicious for cancer.

Breast ultrasound for screening is a fairly recent innovation. The technology is different because it involves complete imaging of both breasts.

The somo•v® Platinum Automated Breast Ultrasound (ABUS) system
On Sep 18th, “U-Systems, the leader in automated breast ultrasound, announced today that the somo•v® Automated Breast Ultrasound (ABUS) system has been approved by the U.S. Food and Drug Administration’s (FDA) for breast cancer screening as an adjunct to mammography for asymptomatic women with dense breast tissue. With the approval, the somo•v ABUS system becomes the only device approved specifically for screening women with dense breasts.”

According to Rachel Brem, M.D., Director of Breast Imaging at The George Washington University Hospital, Washington D.C. “Mammography is an effective tool at finding breast cancer, but it doesn’t work equally well in everyone. Recently completed studies demonstrated with the addition of ABUS we find about 30 percent more cancers in women who have normal mammogram, normal physical examination and dense breasts. For the more than 40 percent of women who have dense breasts, this is a significant advancement in their breast healthcare.”

At the time of writing this article, there was no way to determine from the company web site any locations offering this technology.

SonoCiné Automated Whole Breast Ultrasound (AWBU)*
SonoCiné is an automated breast ultrasound system that has been cleared by FDA as an adjunctive examination to mammography. It is a complimentary examination and not a replacement for mammography. Peer reviewed, published, clinical trials demonstrated that SonoCiné, when used as an adjunct to mammography, found more and smaller cancers than were found by mammography alone. SonoCiné is now available in Pasadena at the Pasadena Breast Ultrasound Center. The Medical Director is Kevin Kelly, M.D., who invented SonoCiné. Located at 960 E Green St., Suite 210, Pasadena, CA, (626) 381-9430.
Conclusion
Dense Breast Tissue (DBT) makes it more difficult to interpret a mammogram. Women with DBT need to be informed of this fact and by law in California will be so informed starting April 1st next year if not sooner. This will allow women with DBT to make an informed decision as to whether or not they should consider additional breast cancer screening tests. This decision can be made by consulting their gynecologist who can help them review their personal and family history to determine if there are any additional risk factors for breast cancer that might warrant further screening tests after a normal mammogram.

*Dr. Jick wishes to disclose that he is an investor in the SonoCiné company.

Thursday, May 17, 2012

Target Knows your Secrets


Target Stores and Patient Privacy

It is a core value (and the law) in medical practice to protect a patient’s privacy. This means that we never divulge any PHI (protected health information) about our patients to anyone who is not legally entitled to that information. We do not discuss a pregnant patient’s issues with her spouse. We do not discuss a teenager’s request for birth control (or prenatal care) with her parents. We adhere in the strongest possible way to the confidentiality of all medical information, and have done so long before the word HIPPA ever entered our vocabulary.

Thus, I was stunned to receive a complaint from a patient accusing my practice of selling her medical information to Target Department Store! Without revealing any confidential information, the issue is that she was early pregnant and thought that almost nobody knew about it and yet she received a pregnancy and baby merchandise coupon book from Target, telling her that “these might help!” She became angry, rightfully so, but directed her anger at us, which was quite upsetting.

Is it possible that Target has slipped a spy into my office, paying someone for this type of information so they will know who to mail those coupon booklets to? Maybe pharmacies upload PN Vitamin purchases to Target? Maybe labs that get back positive pregnancy tests are getting a kickback for sharing this information? How is a patient in this situation ever going to find out where the “leak” is? Sounds like a spy movie plot.
Farrah Fawcett

This reminds me of the UCLA Unit Secretary who leaked information about Farrah Fawcett’s rectal cancer diagnosis to the National Enquirer. I am pleased to state that a thorough investigation of our office has not identified any “leaks” or “moles” from Target in our practice. (But, can we be certain? Even the FBI took years to discover their own mole, Robert Hanssen). I wonder how much Target pays for this information? 

So, how did Target learn that this patient was pregnant? Are there “cappers” out there secretly going to Ob/Gyn offices, collecting a bounty from Target for every pregnancy identified?

It turns out that Target has been collecting massive amounts of data about its customers’ purchasing habits over time. A few years ago they hired someone with 2 Master’s degrees, one in Statistics and one in Economics and asked him how to analyze their data (called data mining) and try to determine with a high probability that a customer could be pregnant. This was surprisingly easy!

The fact is that pregnant women make unusual purchases or often change their usual ones. Did you know that the when a women switches her hand lotion to unscented, chances are she is in the second trimester of pregnancy? This makes sense. The easy stuff would be to identify who bought home pregnancy tests, and maybe even see if later they stopped buying tampons and pads? Maybe they tracked the purchase of ovulation predictor kits followed by the purchase of pregnancy tests? Or purchases of prenatal vitamins? But they go even further. Buying a large purse and also zinc and magnesium supplements tells the Target computer that the shopper is 87% likely to be pregnant!

Once the computer identified women likely to be pregnant, Target started marketing pregnancy and newborn merchandise heavily to these customers. E-mails, coupons in the mail, flyers, whatever worked. Also, the coupons and e-mails used codes to identify who got them, so using one of those coupons ringed a bell in their computer which then “targeted” (pun intended) the client for even more specific marketing!

It is getting harder and harder to keep our personal medical information personal. But we still owe it to ourselves to try. And, if you get a pregnancy coupon book in the mail from Target, please don't accuse your ob/gyn doctor's office of selling that information to them.



Sunday, January 29, 2012

Warning about surgical mesh for pelvic organ prolapse repair

Are you or is anyone you know planning to have surgery for the repair of pelvic organ prolapse? If so, then you must read this about the warning from the FDA and the American Congress of Ob/Gyn (ACOG) about the dangers and risks of surgical mesh used to help repair these conditions.
Pelvic organ prolapse includes disorders such as the bladder bulging into or outside the vagina (called a cystocele) or the rectum doing the same (called a rectocele). For more than 50 years gynecology surgeons have been repairing these problems without using anything more than surgical instruments and sutures.
However, in the past 5-10 years, the use of permanent surgically implanted mesh is growing, and this mesh is causing many serious and devastating complications such as infections that will not heal, severe and chronic pain and the mesh is even breaking through the vaginal wall (erosion) causing pain, bleeding and a malodorous vaginal discharge.
For every mesh complication, the patient is likely to need a risky surgery to attempt removal of the mesh. These operations are fraught with danger since the mesh scars down and attaches to the surrounding tissues. Attempted surgical removal of the mesh can also lead to damage to adjacent organs such as the bladder or the rectum and the patient might even end up with a colostomy.
How did we get into this situation?
This is because these mesh products are FDA approved for use in humans in many cases with absolutely no safety data on their use in people. Sometimes the mesh is only studied in animals. Since mesh has been safely used for years for hernia repairs, the manufacturers basically assumed that their products would be safe in the vaginal area. Well, they assumed wrong.
According to ACOG, in their December 2011, Committee Opinion, Number 513, [1]
“…There seems to be a small but significant group of patients who experience permanent and life-altering sequelae [consequences], including pain and dyspareunia [painful intercourse], from the use of vaginal mesh.”
The number of studies on patients who have had mesh placement are few. In one study, “there was a higher rate of complications associated with vaginal mesh compared with native tissue vaginal repairs, including a 10% mesh erosion rate.” Ten percent of patients developed mesh that eroded right through their vaginal wall. In other studies the rate was as high as 20%!
The FDA has sent a warning to Ob/Gyn offices
“The FDA is issuing this update to inform you that serious complications associated with surgical mesh for transvaginal repair of POP [pelvic organ prolapse] are not rare.”
In its 2011 Safety Communication[2], the FDA identified vaginal placement of surgical mesh for pelvic organ prolapse repair as an area of “continuing serious concern”. The FDA recommends that clinicians inform patients about the potential for serious complications and their effect on quality of life, including pain during sexual intercourse, vaginal scarring, and narrowing of the vaginal wall in pelvic organ prolapse repair using surgical mesh, and doctors should provide a copy of the patient labeling from the surgical mesh manufacturer if available.
Better yet, find an experienced Gyn surgeon who can perform this operation safely without the use of mesh at all.

[1] http://www.acog.org/Resources_And_Publications/Committee_Opinions   December 2011, Number 513, Vaginal Placement of Synthetic Mesh for Pelvic Organ Prolapse.