The Movement Towards Personalized Medicine
Thanks to new science called gene sequencing, researchers have discovered 1,800 disease genes. This information is part of what was learned with the conclusion of the Human Genome Project in 2003. Additionally, hundreds of genes have been discovered that influence the way we metabolize nutrients, perceive taste, regulate hunger and respond to exercise.
Your diet and genes most definitely interact with one another. Depending on which gene variants (single nucleotide polymorphism or SNPs) you have, you may be better suited for a higher fat diet or a low fat diet. Some variants interfere with the absorption of vitamin D and C or Omega 3s and people with these might consider taking supplements.
Other gene variants like one called ACTN may indicate you are better suited for endurance sports, while persons with others are better suited for strength training. Many genome testing companies are offering gene-based weight-management systems which are available through physicians. Patients have their saliva analyzed for SNPs related to diet and exercise. Then the patient is assigned a daily calorie count and one of several diets based on their particular gene uniqueness. Five years ago it cost $300,000 for genome mapping or full sequencing; today several companies offer this service for between $1,000-$3,000. Smaller pieces of particular genes can be mapped for as little as $100.
With these new advancements, a growing number of healthcare providers, medical researchers, and patients are calling for a more personalized approach to healthcare. This approach has been termed personalized medicine, genomic medicine, or precision medicine. It’s an approach that emphasizes the ways in which your disease risks are unique and different, just like your other more obvious characteristics. Those disease risks are based on your predisposition written into your genome at birth, combined with your lifestyle and environment.
This movement focuses on knowledge of the individual’s unique genome and variants-mutations that occur. Based on the results of your particular genomic testing, treatments are tailored to your unique findings. These findings are then combined with lifestyle changes to create personalized diets, nutritional supplement plans, exercise programs, and if necessary, medication recommendations.
In contrast to this approach, the current medical model is based on what most doctors would prescribe to anyone with a similar condition. This is because traditional medicine revolves around what is called ‘standards of care’ or medical protocols which are based on the average person and are assumed to be the best course of action for everyone with the same diagnosis.
Personalized medicine’s greatest strides have been made in cancer detection and treatment. It is creating tremendous breakthroughs in selecting therapies based on the genetics and biology of certain tumor types. Many genomic testing companies now offer panels for risk assessment for breast cancer including the BRCA1 and BRCA2 variants, colon cancer, cardiovascular diseases and obesity. There are also several new prenatal DNA screening tests. Most of these companies require the tests to be ordered by a licensed health care provider because interpretation of the results can be a bit overwhelming.
There is little doubt that personalized-lifestyle medicine is booming. We are also beginning to see genomics and technology intersecting on center stage. The information obtained from wearable fitness tracking devices that monitor everything from sleep habits, heart rate, and physical activity can be combined with genetic information. Armed with this information patients are becoming increasingly aware of their own biologic strengths and weaknesses. Patients are beginning to say to their doctors, “I’m not an average patient. I know who I am. You need to understand who I am before you prescribe whatever treatment you plan to prescribe. Do you have the expectation that this treatment will work for ME?”
It is important to remember that genes are not your destiny, but they do provide information that can lead us to make more informed decisions about our health and health care. If you get sick, knowing your genome or the molecular basis of your disease can be an important piece of evidence for doctors seeking the most favorable treatment plan specifically for you. Ideally in the future, doctors will be able to tap into a single large database filled with anonymous genetic information – biomakers tied to patient demographics and treatments – to help them make the best evidence-based plans for their individual patient.
With all this new genomic data come new questions, ethical and practical challenges about privacy, access, ownership, and more. Insurance companies are more likely to reimburse for evidence-based testing as in a person with a family history of breast cancer seeking genetic testing for the BRCA1 variant.
Personalized medicine is not yet mainstream, but it most certainly will be, and hopefully soon.
Dr. John Dixon can be reached at the Natural Medicine Group (760) 345.7300.
Sources: 1) Genome, spring 2014; 2) Nutrition Business Journal, April 2015