Personalized Medicine

When looking at medical treatment, one can’t help but think of the old doctors’ saying “Take 2 aspirin and call me in the morning.” This one size fits all approach to medicine has changed dramatically since that time period to the point where medical treatment today can be customized to increase success in treating illnesses. This involves using genetic information and other data to make medical decisions which are tailored to individual patients. This does not mean creating new medicines for each person but using the genetic information to determine which treatments will be most effective for each individual patient.

And also to use this genetic information to not only treat disease but to prevent disease by maintaining health. Medicine has come a long way.

Average Patient

Medical treatment of past was designed to treat the average patient but when one thinks about the “average” patient, one realizes how few people actually fit into that label. Each individual’s body has their own way of responding to both health “threats” and treatments.

One only has to look at the digestive process to see how different people are. The way each individual processes food is impacted by the status of their gut. The process of food being broken down involves organs including the pancreas which produces enzymes that break down proteins, fats and carbohydrates. The liver creates bile which helps break down fats and vitamins. In the small intestine the breakdown of proteins, carbohydrates and fats is completed. It is in the small intestine that bacteria helps create enzymes that help with the digestion of carbohydrates.

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In the large intestine, bacteria breaks down the nutrients that remain. Once the food is digested, the nutrients pass from the small intestine to other parts of they body.(Your Digestive System & How it Works 2017). The human body is not capable of breaking down complicated nutrients without the help of the bacteria that resides in the gut. This bacteria allows us to get a wide variety of nutrients from our food. It is here that our immune system responds to microbes that are considered harmful while allowing good microbes to do their jobs in aiding in the breakdown of our food(‘Gut Health 101: What Is the Microbiome?’, 2016). The microbiota in the gut, plays large role in maintaining health and fighting disease. The composition of microbiota in the gut is influenced by a variety of factors including sex, age, genetics and overall health of the host. Studies show that low bacterial diversity is connected to obesity and other diseases (Vieira, Teixeira, & Martins, 2013) Microbial diversity is is important to maintain health. It can prevent the growth of diseases and help create a resistance to diseases. It is in this way that personalized medicine can play a role in the treatment and prevention of diseases.

Precision Medicine Initiative

The Precision Medicine Initiative which was launched by Barack Obama in 2015 was intended to address this. Precision medicine gives clinicians tools to better understand the complex mechanisms underlying a patient’s health, disease, or condition, and to better predict which treatments will be most effective(‘FACT SHEET: President Obama’s Precision Medicine Initiative’). This 215 million dollar investment has has led to important discoveries which take into account a person’s genetic makeup or the genetic makeup of the disease and use that information to better tackle the disease.

Breakthroughs in molecular biology, next generation DNA sequencing is used today to predict susceptibility to a illness/disease and to determine how individuals will respond to treatment (PhD, ‘Precision medicine: From traditional to personalized healthcare’, 2017)This gives individuals and families the info and treatment that they need.’I want to change medicine. The way we manage health now is Byzantine – it’s typically based on treating patients when they’re sick. By collecting a wealth of information at the individual level about a person’s healthy state, we can identify ways to keep him or her healthy and prevent disease.’ says Prof. Michael P. Snyder. This is a whole new problem solving approach to medical treatment but in order to really be successful, it must be taken further.

Genetic testing can be done to look for a predisposition to a disease. But it is difficult to decide if this is a good thing. One of these is the test for the BRCA1 gene which shows a predisposition to a type of breast cancer. BRCA are genes that help repair damaged DNA and help keep our cells genetic material stable. If there is a mutation in the gene, it may not be able to correct DNA damage. These mutations can lead to cancer(‘BRCA Mutations: Cancer Risk & Genetic Testing’).

With the examination of a woman’s genome, the test can show if a person has an increased possibility of developing breast cancer or ovarian cancer. There are 3 possible results to the genetic test, No variant or a benign variant which shows no gene mutations linked to breast cancer, a pathogenic variant which shows a gene mutation linked to breast cancer or a variant of uncertain significance (VUS) which means that the test shows a genetic mutation but not one that is known to increase breast cancer. While this seems like a good thing, only 5-10% of cancers are connected to an inherited gene mutation and of that about 50% are linked to BRCA. What that really means is that this test is only connected to 2 ½ -5% of all cancers(‘Learn About Genetic Testing for BRCA1 and BRCA2 Mutations at Susan G. Komen®’).

Genetic Testing

Genetic testing can also be done to affect the treatment of disease. Pharmacogenomics helps doctors treat disease by using genetic testing to help doctors determine the most effective course of treatment for each patient. Determining a patient’s specific proteome, through genetic testing. doctors can make more informed decision by comparing their patient’s specific genetic makeup to others to see how others will a similar genetic makeup responded to a particular treatment. It can also be used to see how a particular medication will work for a patient given their proteome. In addition to being used to choose a drug, it can be used to adjust the dose necessary to treat the disease effectively without causing harm. Doctors have used this with warfarin, a blood thinner, which is used to treat blood clots. It is difficult to determine the right dosage for each person and a too high dose can cause internal bleeding. In addition to age, weight, liver and kidney function, doctors have learned that different genetic variations impact the dosage as well(Simmons, 2018).

While genetics may be used to have a positive impact on maintenance of health or recovery from disease, there are some negative implications. The thought of insurance companies having access to this information is really scary and seems like “big brother is watching.” While the Genetic Information Nondiscrimination Act which was passed in 2008, made it illegal for health insurance providers in the United States to use genetic information in decisions about a person’s health insurance eligibility or coverage, there are still threats to insurance coverage based on this information. This law does not apply to disability insurance, long term care or life insurance which could have serious impacts. The predisposition to disease can lead to the inability to get coverage for these types of insurance. All based on a “predisposition.” This has the potential to deny necessary coverage to maintain a family’s financial wellbeing. People need to be well aware of this risk and the possibility that there could be changes to the law which would allow the insurance companies to use this genetic information to refuse coverage. Think about how much money insurance companies could save if they were able to refuse coverage to people who had a predisposition towards cancer and think about how catastrophic it would be for the family((‘Can the results of direct-to-consumer genetic testing affect my ability to get insurance? – Genetics Home Reference – NIH’). On the other hand, think about the impact on the insurance companies if people knew their genetic predisposition and purchased insurance but the insurance companies were not privy to that information. People who have genetic markers that show a predisposition towards alzheimer’s, are more likely to buy long term care insurance. This has the potential to bankrupt insurance companies or to drive the cost of the policy through the roof(2017).

Overall, it really is a catch-22. Knowing that one has a predisposition to a cancer, might save lives but on the other hand, it can change the way one lives their life and not allow one to live life to its fullest because of the fear of developing the disease. So on a personal level, I don’t know that I would want to know that I was predisposed to something unless there was something that could be done about it. On the other hand, I would certainly use genetic testing to help with a cure or treatment of an existing illness.

Works Cited

1. BRCA Mutations: Cancer Risk & Genetic Testing. (n.d.). Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
2. Can the results of direct-to-consumer genetic testing affect my ability to get insurance? – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/primer/dtcgenetictesting/dtcinsurancerisk
3. FACT SHEET: President Obama’s Precision Medicine Initiative. (n.d.). Retrieved from https://obamawhitehouse.archives.gov/the-press-office/2015/01/30/fact-sheet-president-o Bama-s-precision-medicine-initiative
4. Genetic testing threatens the insurance industry. (2017, August 03). Retrieved from https://www.economist.com/finance-and-economics/2017/08/03/genetic-testing-threatens-the-insurance-industry
5. Learn About Genetic Testing for BRCA1 and BRCA2 Mutations at Susan G. Komen®. (n.d.). Retrieved https://ww5.komen.org/BreastCancer/GeneMutationsampGeneticTesting.html
6. PhD, Y. H. (2017, October 25). Precision medicine: From traditional to personalized healthcare. Retrieved from https://www.medicalnewstoday.com/articles/319875.php
7. Simmons, H. (2018, August 23). Genetic Testing and Personalized Medicines. Retrieved from https://www.news-medical.net/health/Genetic-Testing-and-Personalized-Medicines.aspx