With advances in our knowledge about genetic predisposition and role of Epi-genetics, it is becoming increasingly evident that in most situations genes are not our destiny. Instead, genes act as recommendation committees and predispose us to several health conditions. It is their interaction with the environment which determines whether or not we will end up with certain health outcomes. Good news is that a lot of this environmental influence is in our control. Examples include our diet and lifestyle. 

​

Genetic tests can give us information about a lot of genes. However, most of the time,very little of this information even makes any sense to general population, let alone give actionable guidance. This is because most diseases are polygenic (multiple genes contribute toward disease development. Their expression is controlled by hundreds, if not thousands of environmental factors). Commercially available genetic tests claim to inform about what type of diet and exercise routine best suits an individual. Unfortunately, most of these tests are misleading at best.

Below are a handful of genes which significantly contribute toward risk or protection from certain diseases. These are listed here because these 

​

1. Have been extensively studied and their role supported by scientific data.

2. Are linked to health conditions prevalent in the general population and are not highly specific to rare diseases.

3. Are actionable. In other words, steps can be taken to mitigate negative outcomes related to the expression of these genes. 

 

Individual Genes and Gene Groups:

​

Below is brief description of a few genes people are usually familiar with and mutations in these genes has significant implication on health. 

​

HLA (Human Leukocyte Antigen genes)

Specifically HLA-DQ, HLA-DP, and HLA-DR) are a group of genes linked with several chronic inflammatory and autoimmune conditions. Approximately 25 to 30% population has one or several copies of HLA-DQ. Common conditions associated with mutations / polymorphisms in HLA group of genes are listed below. ​​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

Actionable steps to take for HLA mutations:

1. Anticipate diseases associated with HLA mutations. 

2. Adjust lifestyle to prevent these diseases. Some of these adjustments include;

   1. Avoidance of triggers ​such as toxins, infectious agents, stress etc.

   2. Adopting a healthy lifestyle with healthy diet.

3. Testing and monitoring of associated diseases. Remember that despite inheriting a certain family of genes, diseases don't start to appear until a threshold of triggers is reached. See how full is your bucket for more details on this. Early testing and monitoring can help prevent a lot of diseases. ​

4. ​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

 

APO-E

This gene is linked with cardiovascular risk and Alzheimer disease. APO-E3/E3 combination is protective and APO-E4/E4 combination confer risk. Approximately 10-20 % population has one or two copies of the APO-E4.

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

 

Actionable steps to take for APO-E4/E4 allele

1. Adopt a heart and brain healthy lifestyle meaning 

   1. Adopting a healthy diet​ rich in plant based sources which supports microbiome to produce short chain fatty acids such as butyrate, propionate and acetate

   2. Maintaining healthy weight thus avoiding metabolic burden on heart and brain 

   3. Preventing hypertension and high cholesterol

   4. Avoiding neurotoxic substances such as heavy metals and many more environmental toxins

   5. Avoiding neurotoxic infections such as herpes group of viruses and many others

   6. Avoiding medications which are known to cause long term cognitive decline such as benzodiazepines

   7. Avoiding trauma/concussion and sports/activities which pose such risk

   8. Maintaining a healthy sleep pattern

   9. Exercising regularly 

   10. Testing and monitoring for early signs of heart disease and dementia/Alzheimer disease 

 

BRCA

Well known BRCA1 and BRCA2 are linked with breast, ovarian, and prostate cancer. Having one or both copies increases the lifetime risk of developing breast cancer. 

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

Actionable steps to take for BRCA mutations

1. Avoiding carcinogenic substances such as toxins, certain medications and hormones

2. Identifying and preventing conditions associated with breast cancer such as obesity, high fat diet

3. Adopting a healthy diet devoid of carcinogenic chemicals

4. Regular check ups and screening with 3 D mammograms

5. Preventative mastectomy based upon individual circumstances

 

MTHFR

MTHFR (Methyl tetrahydrofolate) can carry either one or two mutations — or neither. These mutations are often called variants. A variant is a part of a gene’s DNA that’s commonly different, or varies, from person to person. Having one variant — heterozygous — is less likely to contribute to health issues. About 30 to 40 percent of the American population may have one mutation at gene position C677T on MTHFR gene. Roughly 25 percent of people of Hispanic descent, and 10 to 15 percent of Caucasian descent, are homozygous (have two mutations)for this variant. A mutation can also occur at A1298C position. MTHFR gene is linked with body's ability to

​

• ​Detoxify on a day to day basis

• Methylate

• Repair DNA damage and

• Covert important amino acids and nutrients such as vitamin B12 and folate to active forms. 

​

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Actionable steps to take for MTHFR mutation

A healthy lifestyle focused on the following can help offset some of the damage that can be caused by poor MTHFR allele combinations;

​​

1. Healthy detoxifying diet consisting of green leafy vegetables, green/herbal teas and avoidance of processed and toxic foods

2. Regular exercise to promote natural detoxification 

3. Additional detoxification practices such as sauna, pharmaceutical grade supplements

4. Methyl Vitamin B12 (methylcobalamin, Methyl folate, Dimethyl glycine, Betaine

5. Regular monitoring of homocysteine levels

6. Avoidance of substances which cause heavy toxic burden such as

   1. Hormone replacement treatment (This can specially be problematic if additional detox genes such as COMT, CYP 1A1, CYP3A4, CYP 1B1, CYP2C19,  CYP 2D6, GST-M, GST-P, SOD, NAT are also compromised)

   2. Pharmaceuticals (certain medications metabolized by the liver)

   3. Exposure to heavy metals/environmental toxins through work or in heavily industrialized locations

7. Routine monitoring and prevention of diseases which are partly contributed by mechanisms mediated by poor detox and high oxidative burden​

8. If appropriate, testing for additional genes involved in detoxification process. Some of these include;

   1. COMT,

   2. CYP 1A1, CYP3A4, CYP 1B1, CYP2C19,  CYP 2D6,

   3. GST-M, GST-P,

   4. SOD,

   5. NAT

​

​

Obesity genes 

(ADIPOQ, LEP, MC4R, FTO,LEPR, PPAG, POMC, PCSK1, INS and many more as shown in the image) Several genes are related to metabolism and risk for developing obesity. However, none of these genes are an absolute guarantee to develop obesity. Moreover, testing for these individual genes is generally not covered by insurance plans. ​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

​

 

Actionable steps to take for Obesity related genes

A healthy lifestyle can offset the expression of obesity related genes. 

Find out more information about healthy diet and weight management here. 

​

​

​

​

 

 

 

 

 

 

 

 

 

 

General Information:

• Can I get tested for the above genes? ​

  • Yes. Blood or saliva test can determine if you are a carrier of one or several copies. ​Insurance coverage for these tests is variable. Check with your health care provider.

• What does it mean if I test positive?​

  • If you carry one or multiple copies, you have a higher than normal lifetime risk of developing ​several health conditions mentioned above.​ In most cases, this does not guarantee that you will develop the disease but only informs that a disease might be knocking at your door after additional risk factors such as lifestyle choices, diet and certain carcinogens have accumulated. 

• What to do if I test positive?​

  • Knowledge of your risk empowers to take action and make conscious efforts to mitigate your risk. Discuss with your health care provider to develop a personalized risk mitigation plan. 

• Am I the "unlucky" one if I test positive for any of the imperfect genes?​

  • No. In fact, no one has a perfect genetic make up. In fact, some imperfections or "polymorphisms" compensate for each other.Everyone has one or more genetic mishaps. ​If we had perfect genes and perfect lifestyles, a lot of us would not develop chronic diseases and would live to be centenarians. We all develop certain chronic medical conditions (arthritis, cognitive impairment, muscle weakness, hearing loss etc) as we get old. A lot of this is a result of the combination of what genes we get and how we live our lives. We cannot change our genes but we definitely can control the expression of our genes. 

• Is there a way to know my genetic risk without doing the fancy genetic tests?​

  • One quick and free test is a review of your family history. How long are your family members living? What type of health conditions do they develop as they get older? At what age are they developing these conditions? This provides with a rough idea. However, it does not substitute for the precise genetic testing. After all, we all are unique.