Your genes don't have to be your destiny

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:

Below is brief description of a few genes people are usually familiar with. 

  1. HLA-DQ (Human Leukocyte Antigen genes, specifically HLA-DQ) are a group of genes linked with several autoimmune conditions such as Diabetes, Celiac disease, Rheumatoid arthritis and many more. Approximately 25 to 30% population has one or several copies of HLA-DQ.

  2. 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. 

  3. BRCA - Well known BRCA1 and BRCA2 are linked with breast cancer. Having one or both copies increases the lifetime risk of developing breast cancer. 

  4. MTHFR - Well popularized MTHFR gene is linked with body's ability to detoxify on a day to day basis, covert important nutrients such as vitamin B12 and folate to active forms and repair DNA damage. 

  5. Obesity genes - (LEP, MC4R, FTO,LEPR, PPAG, POMC, PCSK1, INS and many more) 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. ​

 

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. 

 

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