PGxCheck...What is our DNA saying?

 

 

 

We need to consider how genetic information

can help us with respect to healthcare. We are able to perform genetic testing more readily,

but how are we using the results? Join in the discussion!

Welcome

Personalized medicine and pharmacogenomics (the influence of genetics on drugs) is here. It is in its infancy and we all will watch it grow. From healthcare professionals to the general public, pharmacogenomics and the broader area of personalized medicine will present a learning curve.


This blog is made possible through an individual making their genetic information available. 

As we learn what this individual's genetics are telling us...and what it is not telling us, we will discuss it. I am sure there will be many questions. We will have individuals from pharmacy, genetics, ethics, law, and other disciplines adding their expertise and thoughts to the discussion. I sincerely hope you will contemplate the information, formulate your thoughts, and participate in the discussion!

The 'cogs' and 'sprockets' of personalized medicine

We have observed the relative risk (increased or decreased) related to diseases and will soon start the discussion on genetic variation related to drug response. First, however, let's talk about all the components that must work together to make personalized medicine (PM) move forward. As you can see, I have termed these the 'cogs' and 'sprockets'. As with any 'fine-tuned' machine, all of the parts must work together and they all have a critical role to play.


It was the rapid progress made with technology (technology and tools) that has brought personalized medicine closer to clinical implementation. The DNA sequencing technology progress has resulted in the cost of whole-genome sequencing to drop, now, close to the 'magic' value of $1000. There was no single study that made this happen...it was the Human Genome Project (HGP) that was the driving force for the lightning-speed advancement in technology that has moved pharmacogenetic testing into some clinical settings at this time. The technology is just one 'cog' or 'sprocket'. What other components will make the (PM) run like a 'well-oiled' machine?

Regulation: The regulatory agencies must provide guidance that will facilitate PM moving forward, such as supporting co-development of drugs and genetic markers related to drug response.

Insurance coverage and reimbursement: When validated and used appropriately, insurers and government programs must be willing to pay for genetic testing as they would other laboratory tests.

Genetic privacy and legal protections: Just as HIPAA has now been a standard, so has the Genetic Information Nondiscrimination Act (GINA), preventing discrimination by employers and health insurers based on genetic information. There will be broader ethical and legal protections as we move forward.

Medical education: All healthcare providers will need to understand the intricacies of genetics related to drug response. The education must be broad to cover all of the other 'cogs' and 'sprockets'.

Healthcare information technology: With all of the data that is produced by the sequencing technology, the infrastructure must be put in place to move raw genetic data to the user in an end-user format.

These are just some examples for each of the components. Now, let's discuss these different components. Please comment on any of the components you wish to discuss. Offer some ideas, concerns, and insight about these. Let's hear your thoughts!

16 comments | Add a New Comment
1. Kimberly | February 19, 2013 at 07:22 PM EST

I think GINA is a really important aspect that needs to be fully developed, but I do think that there are already some controversies about employment and disease. One of my friends recently graduated and got hired at a company called Reynolds and Reynolds. The company provides health care, so to decrease its insurance costs, it has a gym that all employees gain membership, it also has its own health center on site for employees. The company does random drug testing for marijuana as well as nicotine. If any employee uses nicotine products, they are fired. Personally, I think that this is fine for a company to do. But, what if a company started looking at eating habits of employees and monitored their fat or caloric intake? It seems harmless to do nicotine testing but it can lead to an overuse of restrictions for employees. This shows the importance of GINA and making sure that health insurance companies and employers do not gain access to a person's genetic information.

2. Zachary Holbrock | February 19, 2013 at 07:48 PM EST

I really believe that personalized medicine is heading in the right direction, but certain aspects are of concern. Many businesses will could use the information of their employees or future applicants as reason for letting go or not accepting someone. Also the question of who should be responsible to sit down with every patient and review their medical needs and areas that should be looked at more closely needs to be addressed more clearly. However I do believe that as time progresses these concerns will be answered. In my opinion, patients who receive this important information can benefit in terms of their health especially those who are taking many medications that could be reduced to just a few medications.

3. Austin | February 19, 2013 at 07:49 PM EST

This makes me wonder how this \"well-oiled\" machine plans to work. It is always going to be difficult to gain support from regulatory agencies and money from government programs, but to try to coordinate both of those factors along with several others will be tough. Can PM ever run as smoothly as this post asserts?

4. Joshua S | February 19, 2013 at 09:22 PM EST

So much can get so complicated when run through the government. Unfortunately, there is no other legal choice with how much the government is forcibly involved.

Aside from that, I was thinking about how all healthcare professionals have to know the implecations of genetics. I don't know which would be \"better\": to have all healthcare professionals add genetics to their workload, or to get a genetics specialist to council alongside the medical doctors, much like a nurse or pharmacists does in their prospectives roles. Is there any reason that really says that a genetics specialist cannot be in the equation without a complete overhall of how the medical specialists work?

5. Emily | February 19, 2013 at 10:07 PM EST

I think that patient education is another thing that can help PM run smoothly. By educating the patient, he/she can become more involved with his/her medical care. Something as simple as learning how to interpret the results of a genetic test could help a patient in the long run.

6. Sara | February 19, 2013 at 11:01 PM EST

Education for other medical professionals and GINA will be, in my opinion, the hardest to implement completely. There are already so many other medical professionals practicing now that are not aware or not educated on PM hardly at all. A lot had already graduated before PM even came out. All of these people would need to be educated on the topic in order to help the patients requesting this information. Also, GINA will be extremely difficult to accomplish. Once someone has had a genetic test showing risk of a terrible disease, there is no way to assure that an insurance company will insure that person with the known risk. It would be the right thing to do, but in the business world that is not the major concern. The major concern is making money, and the company would be a little iffy on embarking on that venture because they know they will probably lose money overall.

7. Diana Ivankovic | February 20, 2013 at 12:15 AM EST

I just came out of a national board meeting tonight. We were deciding which grants to support and which to reject. There was one in particular that caught my eye, since we funded it only partially. The $33,000 that the grantees requested for genetic testing of ten of their patients was rejected, due to the fact that the board felt that it was \"too expensive\" and that money could have been put to better use. Unless completely educated, genetic testing is still considered to be a luxury and too many complications seem to follow the patient once his medical history is revealed. GINA should protect all patients, but does it do that for sure? Are we protected from discrimination from future employees and health insurance companies? What about life insurance? Would someone insure me if they knew that I had a terrible set of genes, loaded with mutations, like a ticking bomb?

8. Anh Dao | February 20, 2013 at 12:02 PM EST

It would be ideal if the healthcare practitioners implemented personalized medicine into their diagnosis and treatment. In reality, there would be a lot of catching up to do since many of the most experienced doctors have been out of school for so long, prior to the boom of personalized medicine. Although it is required of doctors to keep up on their studies, they can only understand the new information to an extent. That being said, it is best if a specialist gets involved in personalized medicine. There is a down side to this because the current trend in the health field is to have fewer doctors to reduce information left out that might cause issues such as drug interactions.

In the monetary side, I agree that some people will be uneasy at the though of insuring a person who has the chances of getting multiple diseases.

9. Michaela | February 20, 2013 at 02:36 PM EST

Genetic Testing seems to have mixed reviews in our society. Coming from a medical perspective, genetic testing makes perfect sense in that it could potentially help save lives and better the life quality of countless individuals. However, the main problem (just like it always is in our world today) is money. Everyone seems to be wanting money for something and genetic testing may seem to some people, like the same thing. Therefore, genetic testing should be supported and encouraged. Individuals should be more educated about the benefits of the testing and they may be more willing to accept it and support it financially.

10. Austin | February 20, 2013 at 03:39 PM EST

I think that the genetic privacy and legal protection is one of the most important parts of PM. Privacy and legal protection is going to become increasingly important, as more people start to get their genome sequenced. The information that this sequencing provides is important, and does give insight into relative risk for certain diseases, but it will become very important to protect this data, so people are not discriminated on the basis of their genetic makeup. This is a huge issue, as people have no control over their genetic makeup. Thus, it will continue to be important that laws are put into place that protect individuals on the basis of their genetic makeup.

11. Jessica | February 22, 2013 at 12:07 AM EST

I think that the biggest barrier to PM currently is the lack of support by insurance companies. As we continue to advance our knowledge in this realm, it is important for insurers to be supportive and receptive towards the findings that are produced. In addition, I think it is important to consider how health insurance companies will use genetic data. While it is true that insurers should not be allowed to discriminate based on genetic information, I believe that the companies do have a right to this information just as they receive information about any current medical conditions a patient may have.

12. Angela | February 22, 2013 at 02:37 PM EST

Increasing education could probably help with all of those problems. If law makers knew what needed to be legislated then they could move forward with protecting privacy and coming up with regulations. If insurance companies understood the implications of personalized medicine, I think they would be more likely to cover the test because in the long run it could save them money. From a patient perspective I think educating them could be helpful too. If people realize the benefits of the test then they're more likely to ask the their physicians for it. Physicians, of course, will play a critical role in personalized medicine so they need to know when to order tests and what to do with the results. Pharmacists can help by talking to patients and physicians and also being aware of dosing guidelines and recommending genetic tests. Once people know enough about personalized medicine to be comfortable using it, I think it will become a standard practice.

13. Andrew Ziegler | February 24, 2013 at 05:09 PM EST

Education is perhaps the most valuable \"sprocket\" to advance in. Without the education, struggles will continue and application of PM will be staggered. The most difficult barrier to overcome, I think, will be genetic privacy and legal protection. Companies will certainly be looking for some way to peak at the genetic information of their employees. This information can be invaluable and it is understandable that they want to know the potential risks that hiring certain employees can pose, including any medical problems that could cause liability and performance issues. But the right to genetic privacy is also necessary, and as a result this conflict between both aspects will vacillate for years to come. And while the insurance companies will likely drag their feet as they do for everything, I believe that overcoming this problem will be less of a feat than the others.

14. Maria | February 25, 2013 at 02:06 PM EST

GINA is an extremely important concept in this controversial topic. Just like employers and insurance companies can't discriminate because of race, they shouldn't be able to discriminate because of our genes. These are things that we have almost no control over. It's not like someone would choose to have a higher risk of heart disease or cancer, we are just born with it. Someone shouldn't be penalized for something that they didn't choose to have.

Also I agree that education is also important. If the patient knows how to interpret his/her results they can start to put things into their own hands and possibly try to change their risks.

15. Kay | February 27, 2013 at 05:49 PM EST

I agree educating is very important. By educating the patient,and getting he/she more involved in what is occurring with he/she can really help out. Something as simple as learning how to interpret the results of a genetic test could help he/she out significantly.

16. Allyson | March 01, 2013 at 02:21 PM EST

As personalized medicine continues to be developed and more widely accepted and developed it also becomes more important. Just like you would treat a patient fairly and kindly you also need to treat them individually. Every patient is different and different things work better or worse depending on their make up and disease progression. The United States is becoming increasingly more diverse, acts like GINA are essential. Also with insurance there seems to be more difficulty and or stipulations to reimbursement and coverage, making sure people have availability and options is important.

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