DNA Screening through Primary Care

Introduction

Throughout the years, DNA screening in primary care has evolved in a huge way. Genetic testing in primary care is done by either a blood test or a mouth swab being taken, to see your DNA and what potential diseases you could be a carrier of, or even have a disease. As of today, genetic testing in primary care still has a long way to go, to reach its potential in the primary care system. Genetic screening is seen more in fields such as forenscic, agriculture and paternity tests. It is a lot more common throughout the fields I just listed, with the top use of it being seen in the forensic side of things. Considering how impactful genetic testing can be in our primary care system, our society is not utilizing as much as we should. DNA screening could be very vital to saving many lives, by finding certain diseases early and treating them properly. By performing this DNA screenings, it truly helps primary care physicians to find this diseases being they can spread throughout the patients body and become fatal. There is still much research to do on this topic that Geisinger, a health system, first started to experiment with DNA screening in primary care this year. There is many programs today that have helped assist primary care facilities to promote DNA screenings more. Below, I will talk about MyCode, which is the most known clinical program that Geisinger created to be specifically used for genetic testing.

MyCode

MyCode is a program that Geisinger started back in 2007 that could be very relevant to the primary care system today. This program will be based on “whole exome” sequencing, which analyzes the one percent of the genome that provides directions for making proteins, where most known mutations that cause diseases are found and occur. This was helpful for Geisinger patients, which enabled them to find a genetic variant associated with Lynch syndrome, or help some doctors assist patients that are found to have an increased chance of getting familial hypercholesterolemia.

This program will be able to look for mutations in at least 77 genes and this is just the beginning. MyCode is very different from other clinical programs such as 23andMe for a few reasons. One of the biggest reasons is, MyCode will take a customers saliva and it will determine genetic risk for several diseases and traits, and this is available through and online report which can be viewed by the patient. This has already been helpful to 3.5% of the patients that have used MyCode, by them having a genetic variant that could end up being a problem medically.

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The only exception to this is, only actionable mutations will be sent to the patient. For example, the Alzheimer’s gene, APOE, would not be communicated to a patient, because this would not help them any way through medical treatment (Andrews 2018). This is changing the way people are looking at DNA screening in primary care and will only go up from here. Geisinger is setting the bar high for the genetic testing in primary care units.

Geisinger

Geisinger is a health care system that is located in Danville, Pennsylvania. This health clinic treats more then three million residents throughout the Eastern half of Pennsylvania and southern New Jersey. Geisinger has done extensive research into DNA screening through primary care and has developed on their research. As of May 2018, David Feinberg, CEO of Geisinger, announced a new program they are running, which is, giving their patients who receive routine testing through Geisinger will receive genetic testing free of charge (“ Geisinger launches Wide-Scale” 2018).

This will encourage more of their patients to get genetic tested and see how it works and what it can offer someone. Geisinger really wants to understand how to best use these tests and how much of an impact it can have through the primary care system. They are hoping that within the near future, nearly all three million of their patients agree to have a DNA screening performed on them. The reason for Geisinger not treating more patients across the country is because of the other health clinic nearby that have been around for longer and used more. The health clinic’s name is Partners in Innovation, Education, and Research (PIER Consortium) and it is located in New Jersey, close to the border of Pennsylvania ( “Geisinger expand access…” 2018). Geisinger will perform these tests by their patients consenting to an exome sequencing test, which is a small subset of a persons DNA (“ Geisinger launches Wide-Scale” 2018) .

They can find potential risks of getting diseases by observing changes through the exome. From there, these results will get put in electronic health records, and will help them move in the direction of creating an action plan for diseases found through these testings. Geisinger is also giving their primary care physicians a thirty minute video tutorial to go back over genetic testing and learning what certain results could mean (Spitzer 2018). Within the coming years DNA screening will be more prominent throughout more health clinics.

Nebula Genomics

Nebula Genomics, is a genetics company that has just started up, and could be the future for genetic testing. This company offers the chance to sequence your entire genome at no cost for the patient. The creator of this company is a Harvard geneticist who’s name is, George Church, along with his fellow lab colleagues. Nebula Genomics leaves the choice to the patient by giving them ownership over their data. This company also will do more extensive and thorough research to an individual through genetic testing then 23andMe. Nebula Genomics does not care so much about the money they receive from being payed to do the research, but mainly focuses on key medical information about the person getting tested.

This means that an individual can receive DNA screening at no cost. The company is hoping that people with give $99 dollars to get these testings going, but this will not give you the full thing of your genetic information. In order to get the full sequencing, a company or researcher will want to further inherit their time into being interested with your traits or genome. A very unique thing that this company offers is that, a patient can receive money from up to $10-10,000 dollars for an unusual trait you have and they want to do more research with it (Harris 2018). Church is really straying from what other companies are doing with genetic research which could put him ahead of many other companies and give people more incentive to want to get DNA screenings. The importance of patients getting genetic testing will be seen more in the coming years.

Importance of DNA Screening through Primary Care

DNA screening is something that should be more relevant in everyday primary care. This will be seen more in the future if a few things change. First off, DNA screening offers the ability to determine your risk for a genetic inherited disease. For DNA screening to become more relevant, it needs to be more cost efficient. At the moment the cost of getting a DNA screening can be a little pricey for some patients.

Another thing that DNA screenings need to do is, be more sociable acceptably and heard around primary care facilities more. Primary care physicians do not inform their patents as much as they should do on genetic testing. Within the coming years doctors will have to tell their patients if they should consider getting genetic tested in the near future and how to go about that. It is very important for primary care physicians to to understand the basis of genetics. They need to be able to answer patients questions that they might have about their chances of inheriting a genetic disease in their family.

Physicians also need to be able to understand the effects that some of these genetic diseases could cause and how they have developed these diseases. Family history is also a huge part in determining if someone should get a DNA screening depending on what some of their family members have had for diseases in the past. This also depends on how serious the possible chance of getting one of these diseases could be. For example, if a patients father got dementia at an early age such as 40 years old, a physician should make sure to look back at least three generations (Pinksy, Pagon, Burke, 2001). Even though DNA screening will be a big part of our society in the following years, there is still some issues dealing with this topic.

ELSI

There are many ethical, legal, and social issues dealing with DNA screening through primary care in today’s society. One of these issues is, privacy of information gathered through genetic testing. Some companies, such as 23andMe, will take the results from the test, and then they will take the data and send it off to drug companies for further research (Harris 2018). Some other concerns regarding these testings is a patient can act differently after learning their risks of getting a genetic inherited disease.

For example, a patient could get their results back and there is a high chance of getting Alzheimer’s early in their life, they could act different towards friends and family. Another issues surrounding this disease is, the over prescription of a drug or a prescription of the wrong drug to a patient. In some cases a doctor will prescribe a patient the wrong medication to treat a genetic disease that they will have or over prescribe the medication to this patient. Another struggle with privacy with genetic testing is relaying this information to other family members.

Primary care providers have to figure out how to warn other family members about the potential risk of their chances of inheriting a genetic disease, while still trying to maintain privacy within the patient. (Pinksy, Pagon, Burke 2001). Doctors also sometimes feel the need to rush medication for their patients. When a genetic risk is found out after the testing, there is a chance that the expensive medication could be harmful to a patient so that is another risk doctors have to account for ( Andrews 2018). Also, going back to the thirty minute tutorial/review a physical will undergo, this might not be enough for them to correctly identify or even give information to the patient about their genetic risk.

Some primary care physicians that have been around for twenty or so years, have received almost no training in genetic testing, because of how it hasn’t been taught through medical school to an extensive degree (“Ready or not, DNA screening” 2018). With all being said, after our society gets past these issues, they will see how important DNA screening can be for us.

Conclusion

Genetic testing has been around for a while, but just started to get noticed more in primary care within the last few years. There has been various companies that have been doing a lot of research on this subject such as 23andMe, MyCode, Nebula Genomics. Each company is different from what they offer and what they could potentially give you in return for research they have done on a patient. Primary care doctors still have a lot to learn about how much impact DNA screening could be for our society. With doctors grasping the concept of genetic testing on a better level, could really help save many lives in the future. The importance of genetic testing through primary care will be seen in a lot more health clinics within the near future.

References

1. Andrews, M. (2018, May 22). Routine DNA Screening Moves Into Primary Care. Retrieved November 28, 2018,
2. from https://www.npr.org/sections/health-shots/2018/05/22/613090774/routine-dna-screening-moves-into-primary-care
3. Geisinger expands access to clinical trials through consortium. (2018, April 16). Retrieved December 11, 2018, from https://www.geisinger.org/about-geisinger/news-and-media/ news-releases/2018/04/16/18/57/geisinger-expands-access-to-clinical-trials-through- consortium-with-five-other-he
4. Harris, R. (2018, November 15). Startup Offers To Sequence Your Genome Free of Charge, Then Let You Profit From It. Retrieved November 28, 2018, from https://www.npr.org/ sections/health-shots/2018/11/15/667946213/startup-offers-to-sequence-your-genome-free-of- charge-then-let-you-profit-from-i? utm_source=npr_newsletter&utm_medium=email&utm_content=20181119&utm_campaign=npr_email_a_friend&utm_term=storyshare
5. Pinksy, L., Pagon, R., & Burke, W. (2001, July). Genetics through a primary care lens. Retrieved November 28, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1071466/
6. Raths, D. (2018, July 10). Geisinger Launces Wide-Scale DNA Screening Program. Retrieved November 28, 2018, from https://www.healthcare-informatics.com/news-item/geisinger-launches-wide-scale-dna-screening-program