Category: Medicine Hat News

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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!

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Proper Use of Sunscreen Important to Prevent Skin Cancer

"Trust me, I'm a doctor!" (Dr. Noorali Bharwani)
"Trust me, I'm a doctor!" (Dr. Noorali Bharwani)

Skin cancer is the most common cancer in North America. The benefits of sunscreen outweigh the inconvenience of using it.

First step in the prevention against skin cancer is to avoid sun exposure between 10 a.m. and 2 p.m. whatever the season. These are prime hours for exposure to skin-damaging ultraviolet (UV) radiation from the sun, even on overcast days.

Second step is to wear protective clothing. This includes pants, shirts with long sleeves, sunglasses and a wide-brimmed hat.

Third step is to use sunscreen. Apply sunscreen generously and reapply regularly, says a dermatologist at Mayo Clinic.

There are two types of UV light that can harm your skin – UVA and UVB. A broad-spectrum sunscreen protects you from both.

UVA rays can prematurely age your skin, causing wrinkles. UVB rays can burn your skin. Too much exposure to UVA or UVB rays can cause skin cancer. The best sunscreen offers protection from all UV light.

SPF stands for sun protection factor, a measure of how well sunscreen protects against UVB rays. UVA protection isn’t rated. Manufacturers calculate SPF based on how long it takes to sunburn skin that’s been treated with the sunscreen as compared to skin with no sunscreen.

When applied correctly, a sunscreen with an SPF of 30 will provide slightly more protection from UVB rays than does a sunscreen with an SPF of 15. But the SPF 30 product isn’t twice as protective as the SPF 15 product. Sunscreens with SPFs greater than 50 provide only a small increase in UV protection.

Often sunscreen is not applied thoroughly or thickly enough, and it can be washed off during swimming or sweating. As a result, even the best sunscreen might be less effective than the SPF number suggests.

Rather than looking at a sunscreen’s SPF, choose a broad-spectrum sunscreen. A water-resistant sunscreen means the SPF is maintained for up to 40 minutes while swimming or sweating. Very water resistant means the SPF is maintained for 80 minutes.

Is one sunscreen better than others?

Experts at Consumer Report (May 2017) tested 62 lotions, sprays, sticks, and lip balms. Out of these, 23 tested at less than half their labeled SPF number. That doesn’t mean the products aren’t protective, but you may not be getting the degree of protection you think you are.

To compare the full list of sunscreens you will have to go to the Consumer Report. Here are the top five brands mentioned in the Report:

  1. Equate Sport Lotion SPF 50 (Walmart)
  2. Pure Sun Defense Lotion SPF 50
  3. Equate Ultra Protection Lotion SPF 50 (Walmart)
  4. Trader Joes Spray SPF 50+
  5. Equate Sport Continuous Spray SPF 30 (Walmart)

If you cannot find one of the above sunscreens, then choose a chemical sunscreen with an SPF of 40 or higher that will give you a better chance of getting at least SPF 30.

How to use the sunscreen?

  1. Shake it well.
  2. Apply 15 to 30 minutes before going out.
  3. Use at least a teaspoon on each body part.
  4. Reapply every two hours.
  5. Use spray sunscreens carefully so you don’t inhale it, they can also be flammable. Avoid using sprays on children.

Be safe and enjoy the summer.

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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Vitamin D and Respiratory Infections

A walk on the beach in Maui. (Dr. Noorali Bharwani)
A walk on the beach in Maui. (Dr. Noorali Bharwani)

A research article in the British Medical Journal (BMJ February 15, 2017) says vitamin D supplementation is safe and it protects you against acute respiratory tract infection.

The object of the study was to assess the overall effect of vitamin D supplementation on risk of acute respiratory tract infection, and to identify factors modifying this effect.

The researchers looked at the results of 25 eligible randomized controlled trials (total 11,321 participants, aged 0 to 95 years).

They found vitamin D supplementation reduced the risk of acute respiratory tract infection among all participants.

The article says acute respiratory tract infections are a major cause of global morbidity and mortality and are responsible for 10 per cent of ambulatory and emergency department visits in the USA and an estimated 2.65 million deaths worldwide in 2013.

Vitamin D deficiency is associated with many conditions, including bone loss, kidney disease, lung disorders, diabetes, stomach and intestine problems, and heart disease. Vitamin D supplementation has been found to help prevent or treat vitamin D deficiency.

Vitamin D, often called the sunshine vitamin, is mainly obtained from sun exposure of our skin. However, Canadians are not getting enough of sunshine vitamins. Supplements are necessary to obtain adequate levels because a person’s diet has minimal impact, says Osteoporosis Canada website (New Vitamins D Guidelines 2010).

“Canadians are at risk of vitamin D deficiency from October to April because winter sunlight in northern latitudes does not allow for adequate vitamin D production,” says Julie Foley, president & CEO of Osteoporosis Canada. She goes on to say that because vitamin D requirements for an individual may vary considerably depending on many factors, it’s very important to check with your physician about how much vitamin D you should be taking.

Vitamin D is essential to the treatment of osteoporosis because it promotes calcium absorption from the diet and is necessary for normal bone growth. Some research suggests it may also ward off immune diseases, infection and cancer.

How much vitamin D should you take each day?

The new guidelines recommend daily supplements of vitamin D 400 to 1000 IU for adults under age 50 without osteoporosis or conditions affecting vitamin D absorption. For adults over 50, supplements of between 800 and 2000 IU are recommended.

Coming back to our topic – Do vitamin D supplements help prevent respiratory tract infections?

An editorial comment in the British Medical Journal (15 February 2017) says clinically useful effect of vitamin D on respiratory infection remains uncertain despite hints in the new analysis mentioned earlier in this column.

The editorial goes on to say, “Eight trial level meta-analyses have examined this topic since 2012, with conflicting findings: three reported benefits and five no consistent benefits.” The editorial conclusion is… we need more trials to prove the point that vitamin D supplements protect against respiratory infection.

In the meantime there is no reason to avoid taking vitamin D everyday as indicated earlier. There is no doubt vitamin D is required for many more reasons than just preventing lung infection.

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