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Hereditary Cancer and the Importance of BRCA Gene Testing

Antigua (Dr. Noorali Bharwani)
Antigua (Dr. Noorali Bharwani)

Longtime Newfoundland and Labrador politician, Judy Foote, has resigned as federal cabinet minister.

Foote made the move to spend more time with her family after learning she has the BRCA gene, which is hereditary and can impact her children. BRCA stands for breast cancer.

Foote said she has had two bouts with cancer, but as far as she knows, she is now cancer-free. That is good news.

BRCA testing uses DNA analysis to identify harmful changes that signal a higher risk for breast and ovarian cancer.

If a positive DNA mutation (changes in the structure of a gene) is discovered in one person, other family members can be tested to determine if they also carry a BRCA mutation. A genetic counsellor can make you understand your personal risks and prevention strategy.

About one in 200 women in North America carry a BRCA1 or BRCA2 mutation. But among certain ethnic groups the prevalence is considerably higher. The frequency in those of Ashkenazi (Eastern European) Jewish ancestry is one in 50. Other groups with high frequencies of mutations include women from Iceland and Poland.

Actor Angelina Jolie had a double mastectomy due to the presence of BRCA gene. Actor Pierce Brosnan’s daughter Charlotte Emily died of ovarian cancer at age 42. Brosnan is a former James Bond star whose first wife, Cassandra (Charlotte’s mother), also passed away due to the same disease in 1991 when she was 43.

We know if you have a family history of ovarian cancer then the risk of ovarian cancer increases amongst women in that family.

What is the difference between BRCA1 and BRCA2 genes?

The types of cancers associated with the two genes are different. Carriers of BRCA1 gene mutation have a slightly increased risk of ovarian cancer compared to those with BRCA2.

It is also known that carriers of BRCA2 genes have risks of different types of cancers, including pancreatic cancer and melanoma. For men with the BRCA2 mutation, there is an increased risk of both prostate and breast cancers.

Who is eligible for BRCA genetic testing?

A person who has:

  • A strong family history of cancer
  • The cancer must have occurred in young ages within the family
  • If you are a member of ethnic groups known to be affected
  • Based on your personal and family history a genetic counsellor can recommend BRCA genetic testing

Early detection of breast cancer has dramatically changed the prognosis of the disease. We cannot say the same thing about ovarian cancer because we do not have any tests for early detection.

More than 60 per cent of the women with ovarian cancer are in advanced stage when first diagnosed. Their five-year survival rate is less than 30 per cent. Their prognosis is poor and they have very few treatment options.

To summarise, having a BRCA gene mutation is uncommon. Inherited BRCA gene mutations are responsible for about 5 to 10 percent of breast cancers and about 15 percent of ovarian cancers. If you have a personal or family history of breast or ovarian cancer then discuss your options with your doctor. Also understand the ethical, legal, and psychosocial implications of what you find. Check if the findings will affect your insurance policy.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!

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Death of Comedian Robin Williams and the Tragic Effect of Dementia

Maui, Hawaii (Dr. Noorali Bharwani)
Maui, Hawaii (Dr. Noorali Bharwani)

Dementia is a general term for loss of memory and other mental abilities severe enough to interfere with daily life. It is caused by physical changes in the brain. There are at least 10 different types of dementia.

Alzheimer’s disease is the most common type of dementia and accounts for an estimated 60 to 80 percent of cases.

Lewy body dementia is a progressive disease and is the second most common type of progressive dementia. It affects 1.4 million Americans.

Actor comedian Robin Williams, a man who entertained and made millions of people laugh, committed suicide on August 11, 2014. Questions were raised on the state of his mind and health at the time of his tragic death. At autopsy, the brain of Williams showed signs of diffuse Lewy body disease.

The Lewy Body Dementia Association website has a clarifying statement on the autopsy report on Williams. It goes on to explain the effect of Lewy body dementia.

Before his death, Williams had a clinical diagnosis of Parkinson’s disease and received treatment for his symptoms. He also suffered from depression, anxiety and paranoia, which may occur in either Parkinson’s disease or dementia with Lewy bodies.

In the early 1900s, while researching Parkinson’s disease, the German-born American neurologist, Friederich H. Lewy, discovered abnormal protein deposits that disrupt the brain’s normal functions. Lewy body dementia exists either in pure form, or in conjunction with other brain changes, including those typically seen in Alzheimer’s disease and Parkinson’s disease.

Lewy body dementia is a progressive disease. It causes a decline in mental functions. There may be visual hallucinations, and changes in alertness and attention. They may have Parkinson’s disease-like symptoms such as rigid muscles, slow movement and tremors.

In early Parkinson’s disease, Lewy bodies are generally limited in distribution, but in dementia with Lewy bodies, the Lewy bodies are spread widely throughout the brain, as was the case with Williams.

To make a clinical diagnosis of dementia with Lewy bodies, a person must have significant problems with thinking and memory that interfere with everyday life. There was no mention in the media or in the autopsy report that Williams exhibited these symptoms. But it is not uncommon for early signs of dementia to go unnoticed.

Making diagnoses of Lewy body dementia is not easy because it is a complex disease that can present with a range of physical, cognitive, and behavioural symptoms. Symptoms that can closely resemble other more commonly known diseases like Alzheimer’s and Parkinson’s. That is why it is widely undiagnosed. It can dramatically affect not only the person diagnosed but also the primary caregiver – usually the family.

Early and accurate diagnosis of Lewy body dementia, while not always easy, is of critical importance for better management. If they are misdiagnosed to have Alzheimer’s disease or Parkinson’s disease then they may react to medications differently. They need multidisciplinary treatment from different specialists.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!

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Genetic Testing and the Burden of Knowing Your DNA

To jump or not to jump. (Dr. Noorali Bharwani)
To jump or not to jump. (Dr. Noorali Bharwani)

You have seen the commercials about genetic testing. I am sure you have been tempted to get the test done for yourself. Then you ask, “How much do I want to know about the unknown?” Well, read-on and find out.

Genetic testing involves examining your DNA. DNA is the chemical database that carries instructions for your body’s functions. Genetic testing can reveal changes in your genes that may cause disease. Remember, genetic testing is not perfect.

Different types of genetic testing are done for different reasons. There are at least seven different reasons why DNA test would be indicated. These are: diagnostic testing, presymptomatic and predictive testing, carrier testing, pharmacogenetics, prenatal testing, newborn screening, and preimplantation testing.

A positive test does not always mean you will develop a disease. A negative result does not guarantee you won’t have a certain disorder. If you plan to take the test then you should know what you plan to do with the results.

What are the advantages of genetic testing?

  1. Genetic testing plays a vital role in determining the risk of developing certain diseases as well as screening and sometimes medical treatment.
  2. With a positive result, in some cases, you can make lifestyle changes that may reduce your risk of developing a disease, even if you have a gene that makes you more susceptible to a disorder.
  3. Positive results may help you make choices related to treatment, family planning, careers and insurance coverage.
  4. You may choose to participate in research or registries related to your genetic disorder or condition.

What are the disadvantages of genetic testing?

  1. Genetic testing can have emotional, social and financial risks.
  2. It may affect rest of your family. Discuss with them before you go for the test. Find out how your family might respond to your test results and how it may affect them.
  3. Find out if it is going to affect your work.
  4. What about your life insurance policy – how would that be affected?
  5. A negative result does not mean you don’t have the disorder.
  6. Sometimes it can be difficult to distinguish between a disease-causing gene and a harmless gene variation.

It will be wise to get genetic counseling before and after you get the test. This may be in the form of your doctor, medical geneticist or genetic counselor. This will help you understand what the results mean for you and your family.

To summarize, genetic testing has potential benefits whether the results are positive or negative. Your test results can provide a sense of relief from uncertainty and help you make informed decisions about managing your health.

A positive result can encourage you to take preventive measures. Some test results can help people make decisions about having children. Screening in newborns can identify genetic disorders early in life so treatment can be started as early as possible.

Your family physician will always provide you care that is within the limits of his/her knowledge. Your physician will ask for a consult with a specialist in genetics if appropriate. Your physician will respect your right to make autonomous decisions in looking after your health.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!

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A Dangerous Trio – Snoring, Sleep Apnoea and High Blood Pressure

Keep smiling, it makes people wonder what you are upto! (Dr. Noorali Bharwani)
Keep smiling, it makes people wonder what you are upto! (Dr. Noorali Bharwani)

Reports indicate nearly eight in 10 married couples say their partner has a sleep problem, like snoring, insomnia, or incessant tossing and turning. Sleep difficulties force their partners into separate sleeping quarters. More than 20 per cent say they are too sleepy for sex.

You can blame this on too much work, stress, caffeine, nicotine, alcohol, 24-hour cable TV, the Internet and email.

Lack of sleep has consequences like increased blood pressure that raises the risk of heart attacks and stroke. Diabetes and obesity have also been linked with chronic sleep loss. People who do not get enough sleep are more than twice as likely to die of heart disease.

To stay awake people tend to eat more and that means they put on weight. They smoke more and drink too much coffee and alcohol. That means they are prone to motor vehicle collisions. They hurt themselves and hurt others.

For optimal health it is important for adults to consistently sleep around seven hours each night. When we sleep, the body rests and restores its energy levels. A good night’s sleep will help us cope with stress, solve problems and help us recover from illness.

If you have sleep problem then seek help. There are many ways to help diagnose and treat sleep disorders including snoring. Your family doctor can refer you to a sleep clinic.

We know heart disease is the leading cause of death in advanced industrialized countries, and stroke is also a leading cause of death and disability.

American Heart Association wants you to know that the evidence is very strong for the relationship between sleep apnoea and hypertension and cardiovascular disease generally. If you are a snorer and have sleep apnoea then get proper treatment.

In a sleep study, doctors count pauses in breathing to determine whether the patient has mild sleep apnoea, characterized by five to 15 episodes per hour; moderate sleep apnoea, defined by 15 to 30 per hour; or severe sleep apnoea, meaning more than 30 each hour.

A sleep clinic can get you started with investigations and treatment known as continuous positive airway pressure (CPAP). The CPAP device involves wearing a mask while sleeping. It keeps the breathing passages open and oxygen flowing. It can yield fast results. Blood pressure comes down quickly. This improves your prognosis.

Start reading the preview of my book A Doctor's Journey for free on Amazon. Available on Kindle for $2.99!