Direct To Consumer Genetic Tests

Sharon is a patient of mine who has a problem with debilitating migraines. She also has osteoporosis in spite of a healthy diet and a ridiculously high level of physical activity. When she read about a genetic test she could purchase online without a prescription, she ordered it. Then she brought the results to me to review.

Many patients order these direct to consumer genetic tests. Are they a good investment? Are the results accurate?

Researchers in the UK recently reviewed the risks and benefits of direct to consumer (DTC) genetic tests. They found that positive results are not always accurate and usually need follow up testing. Sometimes negative results are not accurate either, because they don’t test for more uncommon disease-causing genes.

Suppose a man gets a DTC genetic test and finds he has a gene that increases his risk for Parkinson’s disease. He’s upset because there’s no family history and he knows that’s an awful disease. Worse, he did not realize DTC genetics testing results are not covered by the HIPAA privacy regulation so they can be disclosed to life insurance and health insurance companies. He may wind up paying much higher insurance premiums for the rest of his life for a test result that may not be accurate. Worse, he would likely have anxiety and spend the rest of his life waiting for tremors, memory loss and other PD symptoms to start.

Suppose a woman has a strong family history of breast cancer. Should she get a direct to consumer genetic test to check for the BRCA breast cancer genes? That’s a tough question to answer without knowing the specifics. Did her family members with breast cancer get tested? Were they positive or negative? What would the woman in question do with that information? Would she have her breasts and ovaries removed if she were positive? Would she neglect to have annual mammograms if she were negative?

The best place to have these discussions about genetic testing is with your doctor, and likely with a medical geneticist. A pedigree (chart of family members and their medical history) can be done which can help spot patterns and identify which tests will be most helpful, and most cost effective. You may pay more for the targeted tests you choose to have done, but the results will be more accurate and applicable to your specific situation.

What happened with my friend Sharon? Her test was positive for a genetic variant which makes her body not process folic acid well, which increases the risk of migraines. She needs to take higher supplemental doses of folic acid which help reduce her risk of cardiovascular disease and also help keep her migraines in check. That was really the only useful finding. I usually have my patients with migraine take B vitamin supplements (including folic acid), so did she really get anything from her genetic test?

If you’re considering having a direct to consumer genetic test done, there are 3 things to think about:

  • What are you looking for?
  • What will you do with the information?
  • Are you prepared to have your health and life insurance companies in the future aware of increased genetic risks?

Discuss your reasons for considering a DTC genetic test with your doctor. Your doctor may be able to order a more specific, targeted, accurate test which WILL be HIPAA protected. If you have deeper concerns or a family history of an unusual problem, a medical genetics referral is the best option.

QUESTION: Have you or someone you know done direct to consumer genetic tests? What was your experience?

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Soy and Breast Cancer

I have a lovely patient who suffers terribly with menopausal hot flushes.  It’s been years and they show no signs of stopping.  The problem is, she also has a condition that increases her risk of breast cancer.  Hormone replacement with estrogen, while it would help her hot flushes, would be dangerous for her.  Some time ago her oncologist told her she also should avoid soy because it has estrogen effects and may increase her breast cancer risk as well.

You probably know I hate to see anyone suffer.  I hate it even more when the reason for the suffering is based on faulty or outdated logic.  I know newer research has shown that soy foods and soy isoflavone supplements do not increase the risk of breast cancer, but I didn’t have the research to back that claim up.  Off to the research database!

First, some background info.  The reason so many doctors and scientists assumed soy was dangerous for breast cancer patients is because soy contains substances, called isoflavones, that are structured like estrogens.  There’s evidence they can bind to estrogen receptors in cells.

It was assumed that, since most breast cancer tumors are responsive to estrogen, that any estrogen activity would stimulate the cells to grow.  In fact, highly successful treatments for breast cancer like Tamoxifen and Arimidex act by blocking ALL estrogen activity.  As you can imagine, these medications cause a lot of side effects like hot flushes, vaginal dryness and other symptoms that mimic menopause.

You know what happens when we assume, right?  More recently, scientists have decided to question that assumption and look to see if soy intake (both soy foods and soy supplements) actually does increase the risk of breast cancer.

What did they find?  LOTS of studies are out there, but I just want to mention a few.  There was a review article published in late 2013 that looked at 131 different studies on soy foods and soy and red clover isoflavones.  There was evidence that eating soy foods was protective against breast cancer.  Even stronger evidence is that breast cancer patients taking Tamoxifen had no increased risk of recurrence when they used soy.

Another study published in February of 2014 analyzed 35 studies looking at associations between breast cancer risk and soy intake.  The study concluded that in Asia, soy intake reduced the risk of breast cancer in women both before and after menopause.  However, there was no change in breast cancer risk demonstrated in women in Western countries with soy intake.  There was certainly no evidence of an INCREASED risk of breast cancer in women using soy.

A very large study published in 2013 asked over 3800 women about their dietary patterns, including soy intake, when they enrolled in the study.  Over 14 years the authors tracked several variables in study participants, particularly breast cancer diagnosis, breast cancer mortality and all-cause mortality.  There was no difference in breast cancer risk or mortality (from breast cancer or other causes) in women with the highest soy intake vs. those with the lowest soy intake.

A review article published in Germany in 2016 also concluded that soy did not increase the risk of breast cancer and increases survival after breast cancer diagnosis.

It is pretty clear that soy intake does not increase the risk of breast cancer and may actually be protective in some populations.  Why is this?  There is a theory that soy isoflavones, while mimicking estrogens in structure, do not actually behave like estrogens.  Therefore, when they bind to estrogen receptors in cells, they block the actions of the person’s own estrogen molecules.  This theory could explain why soy isoflavones do not increase breast cancer recurrence in patients taking Tamoxifen for estrogen-sensitive breast cancer.  The soy actually behaves a bit LIKE Tamoxifen without the side effects.

If you have considered trying soy isoflavones to reduce hot flashes or using soy as a good source of complete dietary protein, there is plenty of good evidence that it won’t hurt you.  Even if you have a higher-than-normal risk of breast cancer, or have actually developed breast cancer, there’s no evidence that soy is harmful.  As always, you should always discuss supplementation with your doctor to make sure any supplements won’t interfere with your treatment plan.

QUESTION:  Do you have menopausal hot flashes?  Have you considered trying soy?  Have you been told it could be harmful?

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Diet Change And Depression

Depression and anxiety are incredibly common symptoms that we see in primary care. It is estimated that 75-90% of visits to doctors are related to problems caused or made worse by stress. I was so excited to see a new study published showing a link between diet change and depression symptoms!

We all have to eat. Most people recognize that our diet has a huge impact on our health. Heart attacks, strokes, cancers, obesity and many other illnesses are impacted by what we eat. Doctors spend a lot of time advising people to eat less sugar, less saturated fat, and more fresh fruits and vegetables.

Many people don’t realize what you eat affects your mood, too! I’ve had great success with nutritional supplements in helping people with depression and anxiety feel better. A new research study has shown a very clear association between diet change and depression as well.

Researchers in Australia studied 76 young adults with depression and anxiety symptoms. They were randomly assigned to two groups – one group got no intervention, and one group got instructions to improve their diet via a 13-minute video they could re-watch whenever they wanted to.

They were instructed to increase their intake of

  • vegetables to 5 servings per day
  • fruits to 2-3 servings per day
  • whole grains to 3 servings per day
  • lean protein (lean meat, poultry, eggs, tofu, legumes) to 3 servings per day (Remember, plant sources are healthier than animal)
  • unsweetened dairy to 3 servings per day
  • fish to 3 servings per week
  • nuts and seeds to 3 tablespoons per day
  • olive oil to 2 tablespoons per day

They were also instructed to take 1 teaspoon of turmeric and 1 teaspoon of cinnamon most days. They were to DECREASE their intake of refined carbohydrates, sugar, fatty or processed meats and soft drinks. They were given sample menus and handouts answering common questions as well.

After 3 weeks the average depression questionnaire scores had not changed in the control group, not surprisingly. However, in the diet-change group the scores had returned to normal! And the improvement was maintained when they were rechecked after 3 months.

This study supports what I’ve said for a long time. Depression and anxiety are not just related to stress or genetics. Our nutrition strongly impacts our brains’ ability to manage and cope with stress. A crappy diet predisposes us to depression and anxiety, and we can improve our mood by improving our diet.

If you struggle with stress, depression and/or anxiety, improving your diet is something you can do TODAY. Improving your diet is as effective as medication, and works just as quickly. It also has no side effects! What are you waiting for?!

QUESTION: Do you see a link between how you eat and how you feel?

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Low Carbohydrate Diets And Health

Confession time. I tried Atkins in the ’90s to try to lose that stubborn 10 pounds that clung to me like stink on a skunk. I dutifully checked my urine every day to see if the magical ketones were present. Unfortunately I found that unless I ate nothing but meat and cheese those ketones kept disappearing. Unable to exercise due to profound fatigue, I eventually gave it up. The few pounds that I did manage to lose came right back, and brought along friends. My experiment with low-carbohydrate diets was a miserable failure.

Many of my patients proudly tell me that they are eating “low carb” to lose weight. A research study was recently published that looks at the evidence regarding the health effects of low-carbohydrate diets.

Credit: GreatLakesLedger.com

It doesn’t matter if it is called “keto,” Atkins, South Beach, or Paleo. Proponents of low-carbohydrate diets all insist that carbohydrates are the cause of overweight and obesity and must be avoided. The original ketogenic diet was developed to treat intractable seizures in children and did have some success. However, low-carbohydrate diets today are almost exclusively used for weight loss. A survey of over 1000 adults conducted in 2018 found that 16% reported eating some sort of low-carb diet in the previous year.

Are low-carbohydrate diets better than diets (low-fat, calorie-controlled, DASH, Mediterranean, etc) that don’t restrict carbohydrate intake? It seems that, in the short term, they do promote more weight loss while suppressing appetite. They also do increase insulin sensitivity and decrease blood sugar levels in diabetics.

However, low-carb diets are notoriously difficult to maintain. It is just really hard to avoid fruits, root vegetables and whole grains for long periods of time. Once a person starts adding back carbohydrates, it is a slippery slope and the weight typically starts coming back, with interest.

Scientists have not done long-term studies on those who eat a low-carb diet. We don’t know if they are less likely to have a heart attack, cancer, diabetes or other lifestyle-related illness. Low-carb diets are associated with higher levels of LDL (“bad”) cholesterol. And after a year or more, those who eat low-carb haven’t lost more weight than those who use other diets.

A healthy diet is pretty simple, but it isn’t easy. Plenty of whole fresh fruits and veggies. Green leafy vegetables, nuts, seeds and beans. Small amounts of lean meats and lowfat dairy, if any. Fatty fish several times per week. Water, water, water. Avoid processed foods and artificial food ingredients when possible. Carbohydrates-good fat-protein macros in a 50-30-20 ratio for most people. If you’re not sure what your macro ratios are, you can track for a few days at MyFitnessPal.com (not an affiliate, just a happy user of the app).

Low carbohydrate diets sound like an attractive way to lose weight rapidly. But they are hard to maintain and result in yo-yo dieting. They are not more effective for long-term weight loss than other diets. And they haven’t been shown to create long-term health.

QUESTION: Have you tried a low-carbohydrate diet? What was your experience?

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