Family History Tidbits

In my search for useful news today, I have come across something near and dear to my heart. Karen Lu at M.D. Anderson has posted on the importance of taking a family history. Her spin is obviously tilted towards cancer, but the benefits of family history or just as important in diseases like heart disease.

From the site:

“Family gatherings are the perfect time to ask family members detailed questions about their health history,” says Karen Lu, M.D., co-medical director of the Clinical Cancer Genetics program at M. D. Anderson.
“It is important to gather information about the health history of your parents, siblings, grandparents, aunts and uncles, and even your cousins.”

She points out that there are some red flags to watch out for in your family.

1. Early onset of Cancer. (I say not only cancer, any disease is important here)
2. Family member with 2 or more "related cancers" (These include things like breast and ovaries. For more info see here)
3. Two or more family members who have related types of cancers. (Too bad some insurers require 3 members to be afflicted in order to pay for BRCA testing)

If you find some of these red flags you should at a minimum ask your physician about genetic evaluation. If you live in the CT, NY, NJ area give Helix Health of Connecticut a call. Genetic Testing may be appropriate for you and evaluation is needed.

Genetic testing involves looking for abnormal genetic changes in a person’s blood sample. People who inherit abnormal genes from a parent may be at increased risk of developing cancer.

“The benefit for the cancer patient who tests positive for an abnormal gene is that doctors can use this information to determine if they are at increased risk for a second cancer and to help family members,” says Molly Daniels, a genetic counselor at M. D. Anderson.

For family members, the benefit to learning that a close relative carries an abnormal gene is that they too can be tested to determine if they are at increased risk for developing cancer.

Those who test positive may begin routine cancer screening exams at a younger age than what is usually advised for the public. High-risk screening enables health professionals to detect cancers as early as possible when there is the best chance of successful treatment and cure. Those who test negative can be reassured that they are not at increased risk because of family history.

The Sherpa Says: The major risk factor in both heart disease and cancer is family history. Perhaps more so in heart disease. Evaluation for these risks need to be done on an ongoing basis. Remember, your family history changes with time. So if you have taken your family's history, up date it yearly or when something you know has changed. A great tool for this is found at the HHS website!

Family History and Stroke Risk

This week at the American Academy of Neurology's annual meeting results from a study were announced. Persons who had a brother or sister who suffered a stroke were almost 2 times as likely to have a stroke. All strokes in the study were due to an occlusion of a blood vessel which either resolved in less than 24 hours (TIA) or not. Of note the risk to Mexican Americans was even higher. Not surprising to me especially because they have a higher rate of metabolic syndrome in their population. Interestingly this risk was almost 3 fold in Mexican American men! My questions are many fold and will be found out over time. What role do hormones play? What about epigenetic changes in sperm? The list goes on forever.

So once again family history rules the day. I hate to tell all of these testing companies, but family history is the cheapest and best genetic test you have. Now if we can only convince physicians that family history is never noncontributory unless you believe in spontaneous generation!

True there are those like myself with only half a tree and that is where targeted testing guided by a physician will play a role.

Menopause, Hormones, and You

In the Wall Street Journal today there is a review article regarding recent literature published on menopausal hormone replacement. This article summarizes the debate regarding hormone therapy but does not get to the meat of an article published in the Journal of the American Medical Association(JAMA). The article has some controversy swriling around it. Mainly, that the p-value (likelihood of chance association) was adjusted after the analysis in response to a JAMA request. This is not usually standard practice for publishers as the p-value is usually accepted at 0.05. In this case it is 0.01. Either way the findings are what is interesting.

Traditionally the thought was that menopause and estrogen deficiency was a disease state. As such the "old time" doctors thought that hormone replacement helped prevent stroke and heart attack risk. This was flipped on its head in 2002 when the WHI released some findings which stated that you are actually at increased risk of heart attack or stroke while on the therapy!
This new study points out that there is a window of new onset menopause where therapy does lower risk, however in the elderly >70 years old there is an increased risk. I think that this study has some merit. However, the results can only be interpreted through a genomic eye. Recently data were released regarding ESR1(estrogen receptor alpha) and increased risk of heart attack in men. Currently there are no definitive data on whether estrogen PLUS some gene polymorphism put you at increased or decreased risk. When that data comes, rest assured that labs will be lining up the postmenopausal women. And when that data comes, you will hear it here First!