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Monday, November 29, 2010

Getting tested for BRCA genes

I have been asked many times whether to be tested for the gene mutations which increase risks of breast cancer, also known as BRCA genes. There are a few such gene forms identified, which together account for a large percentage of hereditary breast cancers, as discussed in this National Cancer Institute fact sheet. These genetic mutations code for faulty enzymes responsible for repairing damage to DNA that causes cancer.

The first question in deciding whether or not to get tested is whether you have had breast cancer!! If so, get tested!! If you are positive for one of the BRCA mutations, it should have a big impact on whether you decide to have a prophylactic, that is, preventive mastectomy of the other breast. Women without BRCA mutations do not survive longer if they have second mastectomies. It also affects how frequently you screen the other breast with a mammogram. I am always surprised by how many people (yes, men get it too) who have had breast cancer have not had these genetic tests! This is a situation in which the downsides are much fewer. Specifically, the documentation of increased risk which might make it hard to get health insurance, is besides the point, since the history of breast cancer already confers that risk.

If you haven't had breast cancer yourself, the next question is if you know the medical history of your first degree female relatives, your mother and your sisters, or your father's sisters and mother. If you do not, consider whether you are in one of the ethnic groups at higher risk of the genetic mutations which increase the risk of breast cancer (Ashkenazi Jews, Icelanders, Norwegians, and Dutch). If you are in one of these ethnic groups, and you don't know your personal family history, you are likely to benefit from being tested.

If you do know your mother's, your sisters', both of your grandmothers' and your father's sisters' medical histories, and know what they died of, and they lived into their older years (70s or 80s, say) without developing breast cancer, then there is little chance that you have an extra genetic risk of breast cancer. Your lifetime risk is then like the risk in the general population without a family history of breast cancer, or about 12%, and there is no special reason to be tested.

Now, if your mother or sister did get breast cancer, is there any additional advantage in getting tested for BRCA genes?

The first step is, if the person who had breast cancer is still alive, to ask that person if they were tested for these gene mutations. If they were not, you could ask if that person is willing to be tested. The reason is that if they are negative for one of the gene mutations, then you are unlikely to have an increased risk on that basis too, and testing is much less helpful and not recommended. The second reason is that if they are positive, and you then get tested and test negative, you can set aside worrying about increased risk due to your family history as you have probably not inherited that risk.

If the person in your family who has breast cancer has died or refuses to be tested, the pros of getting tested are that if you test negative, you can get screened less often than if you are positive. If you are positive, you can get screened more frequently, and using different forms of screening such as ultrasound. Also, if you are positive, you can get screened for ovarian cancer, which is not normally done otherwise, because women with BRCA genes have increased risk of ovarian cancer. You may also wish to have prophylactic bilateral mastectomies, or if you develop cancer, to get the other breast removed at the same time. The lifetime risk of developing breast cancer when one is identified as being at genetic risk is extremely high, and many women opt for this solution, even some without BRCA genes. Finally, as above, if you do develop breast cancer, evidence has shown that if you do not have a BRCA mutation, having a prophylactic second mastectomy does not improve your survival.

The biggest downside of testing for breast cancer risk genes is being identified by insurers as being at increased risk. While there is now a federal law against insurers discriminating against women on this basis, this is totally unenforceable. Women can be denied by insurers for a host of spurious reasons (one woman I know was denied because she had had a urinary tract infection treated with antibiotics in the last year!) which may be cover-ups for other risk factors. We also have no assurance that health care reforms banning exclusion of pre-existing conditions or refusal to insure people with those conditions, will remain after future changes in the political landscape. Many women will feel with some justification that it is simply better not to have this risk recorded.

The solution to this downside, of course, is to get tested anonymously outside the insurance system. Then, at least, you will not be classified as being at extra risk unless you divulge this information to a physician because you wish to do something about it (such as bilateral mastectomies). Most labs will send specimens anonymously as long as you are paying for it and not the insurance company. Now that the patent on the BRCA1 gene has been struck down, other companies besides Myriad Genetics will spring into the marketplace and testing is likely to become less expensive. This brings up a new downside: the cost of testing, which depending on how many genes are tested for, can be anywhere from a few hundred to a few thousand dollars. See this discussion in the National Cancer Institute's factsheet

Getting tested may cause other harm worth mentioning. The increased screening for breast cancer which you are likely to have if you test positive carries risk. If you get screened more, you are more likely to have a false positive mammogram, or ultrasound, or breast MRI, with unnecessary biopsies, etc. Radiation from mammography and MRIs may also cause some increased risk. There has been a lot of recent publicity around why one might want to avoid mammography and screening despite a family history of breast cancer such as this recent column in Health Affairs.

The organization Facing Our Risk of Cancer Empowered (FORCE) runs a hotline to help answer questions about breast cancer risk and screening for breast cancer genes. Local communities often have support networks as well. In Palo Alto, there is also an organization called Breast Cancer Connections which specializes in helping newly diagnosed women, but also provides a lot of information to women about risks for breast cancer.

For additional information, ask your doctor to refer you to a genetic counselor. You can check with your insurance about whether they cover a visit like this. They may only do so if you have a family history of breast cancer.

Friday, November 19, 2010

Who should be your medical care "proxy" with durable power of attorney?

When you visit a good estate attorney, he or she will usually instruct you to fill out an advance medical directive if you don't have one already. The link in the previous sentence is a sample document provided by the State of California, although the directive does not have to be in this specific format. This document allows you to leave some specific instructions, but most important, allows you to designate whom you want to represent you for medical decisions if you are unconscious or cannot make your own decisions.

Many people designate a trusted loved one, such as a child or a spouse for this role, if they have one. However, some people do not have such a person. Such people should hire a primary agent to whom to give durable power of medical attorney in case they are incapacitated. My new business, Your Health Care Advocate, provides this service. Although I don't have a website specifically for this arm of my business, you can find contact information at http://www.myadvicedr.com. Please note that if I am serving as your agent, I cannot provide any other medical services to you as this would be a conflict of interest. Conversely, if you have consulted me for medical advice, I can become your agent as long as you realize that once the agency takes effect (you become unconscious or unable to make your own decisions), I will not be able to provide other medical services or advice to you, but rather would follow your wishes or attempt to figure out what your wishes would be in making decisions or providing input for medical decisions.

One of the reasons for appointing an agent who works for you is that doctors are unlikely to follow patients' wishes about life sustaining care, as demonstrated by the SUPPORT study . In my own experience, this goes in both directions, where doctors keep patients on life support that they wouldn't have wanted, or discontinue life support earlier than patients might have liked. In a recent case, doctors were ready to discontinue a man from life support on the same day as a cardiac arrest, before they had even assessed that his brain function was gone, despite the wishes of his medical proxy, his wife, that he wished every intervention to be done to attempt to save his life. In another case of a man with congestive heart failure who had dementia from several strokes, who had expressed his wishes to his family that he did not want to be put on a ventilator except for acute pneumonia, young doctors on call came in to the intensive care unit prepared to to intubate him (put him on a ventilator) when he stopped breathing during another massive stroke, despite very poor brain and heart function before the event happened. Had an agent not been present, he would have been put on life support, as his wife was not confident enough to question the doctors. From many religious perspectives, withdrawing life support is more problematic than not using it in the first place when it is not indicated. And, of course, failing to provide it when indicated and desired is even more concerning.

Thus, while it may superficially seem to be the most prudent avenue to appoint a family member to this role, there are some significant drawbacks to this choice.

1. If it is a child, they may not live where you do. Critical medical decisions in an emergency require very quick answers or the doctors are left to their own choices instead of getting input from anyone you instructed or anyone you trust. Telephone conversations are not that great for helping people understand critical medical situations. In this case, you may wish to designate a local alternate agent as well as the child who serves as primary agent. Consider hiring a medical agent or advocate to play this role if you do not have any friends with extensive medical knowledge.

2. If it is a spouse, he or she may already be frail and have health problems or may be emotionally fragile, or may lack self-confidence interacting with doctors. These are likely to be exacerbated by your being critically ill. This will make it difficult for them to have any meaningful input into the process. They are likely to feel overwhelmed and simply trust the doctors to carry out your wishes. Therefore, you may wish to designate or hire an alternate agent with a medical background in case your spouse feels too overwhelmed to carry out this responsibility effectively and wishes to delegate it.

3. The trusted person you designate may have little or no medical knowledge. Therefore it may be hard for them to understand the implications of the choices doctors are asking them for input on. You may wish to hire someone with a good medical background.

4. Conflict among family members often revolves around these decisions. It creates significant conflict among family members when one has decision-making authority and the others do not, and input from the others is ignored or devalued. Children also have conflicts of interest. In the worst cases, issues of inheritance and property may drive a child who has not been close with you to argue in favor of discontinuing life support, or, if you have children who live in your house, are very emotionally attached to you, or will benefit more by your survival in some way, they may militate for interventions you do not wish to have. A spouse may be somewhat narcissistic, and feel angry with you for abandoning him/her, and ignore your wishes not to intervene in certain situations.

A great alternative is to hire a medical agent who works for you to carry out your wishes and has no vested interest one way or the other.

[Of course, you may have little or no medical knowledge too, which is why I recommend that for important medical decisions, you consult a skilled doctor as a health care advocate (like me! http://www.myadvicedr.com)]

US Worst of 11 Industrialized Nations in Cost-Related Health Care Access Problems


Where does the US stand

Loved this compilation posted by a doctor on Medscape

Healthiest: the U.S . ranked 11.
top-ranking Iceland, Sweden and Finland
Obese: # 1 United States: 30.6%
Murder rate http://www.nationmaster.com/graph/cri_mur_percap-crime-murders-per-capita
# 24 United States:
Best Health System http://www.photius.com/rankings/healthranks.html
# 37 United States of America
Heart Disease Deaths: http://www.nationmaster.com/graph/hea_hea_dis_dea-health-heart-disease-deaths
# 13 United States: 106.5 per 100,000 people
Longevity: http://www.nationmaster.com/graph/hea_lif_exp_at_bir_mal-health-life-expectancy-birth-male
# 49 United States: 75.29 years 2008
Human Development Index: http://en.wikipedia.org/wiki/Human_Development_Index
#4 United States 0.902 ( 9)
Richest: http://www.worldsrichestcountries.com/
#Liechtenstein $118K USA # 10 47K
Best Place to Live: http://www.huffingtonpost.com/2009/10/05/norway-best-place-to-live_n_309698.html
Norway is # 1
The United States placed 13th.
Gender Equality: http://english.peopledaily.com.cn/90001/90777/90853/7167348.html
Iceland # 1 followed by Norway, Finland and Sweden.
The United States # 19th
Corruption: http://www.nationmaster.com/graph/gov_cor-government-corruption
US # 17
Fastest Internet: http://www.speedtest.net/global.php#0
South Korea; # 30 USA

More on red yeast rice and cholesterol

The Archives of Internal Medicine published a study which evaluated different red yeast rice supplements and found them highly variable in the amount of monacolin (sometimes spelled monocolin) they contained. This ingredient is the active ingredient lowering cholesterol, which is similar to that in lovastatin. They also found that some of the supplements contained a compound toxic to the kidneys.

The important distinction here is between red yeast rice and red yeast rice supplements. This study evaluated 12 supplements in capsule form. While the study raises a caution about purchasing extract supplements in capsule form, I stand by my previous post on the subject with respect to the whole grain. Buying the whole grain red yeast rice and preparing it just as one would prepare any other type of rice should not be subject to regulation as a drug.

Wednesday, November 10, 2010

Does chocolate lower risk of carotid atheroslerosis in women?

Another study shows some possible benefits of cchocolate: the study suggests that chocolate lowers risk of carotid atherosclerosis (the thing that causes strokes and transient ischemic attacks, or TIAs) in women.

This study has a weak study design (prospective cohort study), and there was no difference in outcomes between those consuming weekly and daily chocolate. This makes it more likely that the findings may be misleading, since there is no dose-response relationship demonstrated.

The authors (like others before, if you're a regular reader of my blog!) properly call for a randomized controlled trial of chocolate in preventing atherosclerotic vascular disease such as transient ischemic attack (TIA) and stroke.

Can't wait!

Monday, November 8, 2010

Pregnant mothers: watch those poppy seed and everything bagels!

This mother ate an "everything" bagel, tested positive for opiates in her prenatal drug test, and had her baby taken away for 5 days before she was able to fight it successfully. Much as I dearly love poppy seeds, it might be a good idea to tive them up when you're pregnant, well before you take your prenatal blood work!


Monday, November 1, 2010

More dark chocolate benefits - higher HDL in diabetics

OK, on the subject of dark chocolate my blog entries are getting to sound like a broken record (anyone out there know what a record is? NOT like breaking the record in the Guiness Book of World....)

So here's another study showing its benefits. Investigators randomized 12 patients with diabetes to eat 45 grams (a total of about an ounce and a half) of very dark chocolate (85% cocoa solids) daily or a similar amount of chocolate without the cocoa solids or polyphenols present. dyed to the same color. Patients who ate the real dark chocolate had better HDL levels and therefore better total/HDL cholesterol ratios.

People in the group that ate real chocolate did not gain weight and did not ingest more calories, because the chocolate generally resulted in their eating less snack food and eating less at the next meal than those who ate the "placebo" chocolate. They also had equivalent blood sugar and glycosylated hemoglobin levels.

This study had a small sample, but if it is repeated and borne out, it should mean that we don't have to advise our diabetic patients to stay away from anything sweet and yummy.