Please use your own judgement

A volunteer panel of national experts the US preventive Services Task Force (USPSTF)  in 2013  last recommended that genetic testing be recommended for women with a family history of breast , ovarian , tubal and peritoneal cancers   That was recently updated  to now include women who have in the past been diagnosed and completed treatment  for breast, ovarian and tubal cancers who are now determined to be cancer free and those with ancestries with BRCA 1 and BRCA2 such as those of Ashkenazi Jewish descent

If a woman is determined on an initial assessment by her Primary Care doctor to be of high risk she should be referred for genetic counselling and then genetic testing for the mutations of BRA and other types.

Routine genetic testing is not recommended. One must realize that breast cancer though the second most common cancer in women, the genetic type is very rare. Genetic mutations are about 5 to 10% of breast cancers and 15% of ovarian cancers.

If one is found to have a cancer mutation then several steps may need to be taken to reduce one’s chances of getting cancer.  Some such possibilities include taking medications or undergoing risk reducing surgeries like the ones that Angelina Jolie chose to have. This information may become important for first degree relatives and daughters. Taking the right steps is absolutely important so that one’s Health Insurance will pay for all the procedures, consultations and medications from start to finish.

There are other deviations from the usual in that there are disparities in the incidence of breast cancer ie certain minority groups have a higher incidence of breast cancer independent of personal or family histories.  The Primary care Physician should make those determinations. Despite following the right procedures my own Insurance company took 2.5 years to pay for my testing expenses.

Reference  JAMA

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Genetics is a rapidly growing and changing field. Unquestionably, some people are enjoying the new “direct-to-consumer” versions of genetic testing, finding new relatives or learning more about their family history. Examples of direct-to-consumer test include 23andMe and

Genetics is the scientific study of heredity and genes. The question today is, where does science end and commercialism begin? Is 23andMe a scientific study? Which is the correct test for men and women who fall in a high-risk category for breast cancer or prostate cancer?

Since breast cancer strikes both the young and the old, it’s important to know that both private insurance and Medicare will usually cover the costs of genetic testing and counseling when recommended by a qualified physician. A very important question is whether the results of genetic testing can be used to deny health insurance coverage or increase insurance premiums? The answer is no; however, it could impact the ability to get Long Term Care or Life Insurance. No health insurance pays for direct-to-consumer tests. If a genetic counselor assesses genetic risk and recommends counseling, she can coordinate with your physician to order testing. In this case, insurance usually pays. It is prudent to be sure the genetic counselor contacts your insurance company to verify payment.

Genetic counselors are highly educated individuals who map your heredity. Through you, they identify each family member, male or female, who had cancer. In the case of breast cancer, they will look specifically for information on any males or females (parents, siblings, aunts, uncles, cousins) with breast cancer history and any males with a history of prostate cancer. Genetic mutations that we already knew were associated with breast cancer have been shown to be the same mutations that cause an increased risk of prostate cancer.

There is one other option for genetic testing and that is the Mayo Clinic GeneGuide. The Mayo Clinic product tests for specific variants (mutations) that are related to specific diseases. Breast Cancer is NOT on of the variants tested. The diseases for which Mayo’s GeneGuides tests can be found on their website

How do I choose between genetic counseling by a professional plus testing and direct-to-consumer testing? Here are some pros and cons.

Genetic Counseling/Testing with a Professional

Direct-to-Consumer Testing Mayo Clinic GeneGuide
Identifies thousands of mutations, many in the BRCA1 and BRCA2 genes Direct to Consumer testing identifies only 3 mutations associated with BRCA1 and BRCA2 Test for specific variants (mutations) that are related to specific diseases. Breast cancer is NOT one of the variants tested
Expensive, but usually paid by insurance or Medicare Inexpensive but the entire cost goes to the consumer Not covered by most insurance
In depth counselling regarding the
meaning of the tests
No counselling Pre-and post-testing is available, but a personal physician would be the major point of contact
Results are safeguarded by general medical privacy (HIPAA) rules No privacy guarantee at all. Information could be shared Results are safeguarded by general medical privacy (HIPAA) rules
Requires an order from a physician. No order required. Healthcare provider determines whether the test is appropriate on an individual basis

In summary, genetic testing is meant to determine whether an individual has inherited a mutation associated with a specific condition such as breast cancer. Although 23andMe has been approved by the FDA for breast cancer screening, their report only reports on 3 mutations of BRCA1 or BRCA2. The only reliable test to date is via a physician order and genetic counseling. GABCC recommends discussing genetic testing with a physician first. If risk for breast cancer is determined to be high, genetic testing should be ordered. Contacting and making an appointment with a genetic counsellor recommended by your physician would come next. Relying on their expert judgement and a primary care physician or specialist, will provide the best outcome for disease prevention.

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Should a woman take Hormone Replacement Therapy (HRT) to counteract the symptoms of menopause?

There is clearly new data published in The Lancet from the UK clarifying the risk of breast cancer in women who took HRT beyond one year after menopause. Though the risk may appear small, in the Western Countries 6.% of women of average weight will develop breast cancer over 20 years from age 50 years without HRT compared to 8.% taking the Estrogen progesterone combination. Women who are obese are at much greater risk than normal-weight because fat cells produce additional estrogen at menopause. Those who took progesterone only for 10 to 14 days a month had odds of 7.7% while those who took estrogen-only due to having had a hysterectomy had a breast cancer risk of 6.8%  Taking HRT should be a personal deduction based on current information. Past studies that encouraged HRT as protection of bone strength is no longer supported as are the data that HRT protect against Heart attacks or strokes. Stopping HRT does not reverse the risk however any decision to discontinue HRT must be discussed with one’s physician. The study from Oxford confidently mentions that 5% of breast cancers could be related to HRT and tend to be of the Estrogen receptor Positive Type (ER ) responding to Tamoxifen type drugs.


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