The Impact of Personalized Medicine

We’ve all heard stories in the news or from family and friends where someone we may know is receiving drug therapy via personalized medicine.

We may wonder how is that done exactly?

How is modern medicine able to personalize drug selection and delivery?

Let’s walk through the steps and try to demystify the process:

Taking a hypothetical patient, who let’s say is diagnosed with Stage 1 Breast Cancer.

Personalized medicine, genomic medicine, precision medicine all are the same thing.

This is the advancements that you hear about in the news, what is different from past diagnosis tools is personalized medicine, is an approach that emphasizes how your disease risks are unique and different.  For example, just like your other, more prominent characteristics, like the color of your eyes, hair color and similar.

Certain disease risks are based on the predispositions written into your gene code (genome) at birth, how lifestyle and environment impact on risks. Every cancer has its genetic makeup, lending each tumor a unique character with unique tendencies and vulnerabilities.

Carol Forden The Impact of Personalized Medicine  Using lab test, it is now possible to test to see if a drug or treatment or tailored combination of the two will work better for you than it would for someone else.

So how do we define personalized medicine? The National Human Genome Research Institute is specific, they have taken the stance that a personalized approach to medicine includes an “individual’s genetic profile to guide decisions made regarding the prevention, diagnosis, and treatment of disease.”

Recent cases we’ve all heard in the news, for example, was Angelia Jolie who underwent a double mastectomy proactively after tests showed she carried the BRCA1 genetic marker.  Her mother, who died from the disease, carried the same genetic marker.

This genetic marker, the risk of developing breast cancer for those carrying a BRCA1 mutation are 65 percent; the risk of ovarian cancer is a 39 percent according to the National Cancer Institute.

Our gene pool is not destiny; outside factors influence how our genes react or don’t to stimuli. Being aware of this information that can lead us to make more informed decisions about our health, healthcare, and, a treatment plan that can change our future.

If you get sick, knowing your genome or the molecular basis of your disease can be a significant piece of the puzzle and when coupled with clinical evidence for healthcare providers who are looking for the most favorable and best outcome and treatment plan for you.

Cancer, for example, a genetic test may lead to successful drug treatment rather than radical surgery or radiation.  For instance, melanoma may be BRAF positive, the specific gene mutation in the tumor sets it apart from other melanomas calls for a particular treatment protocol.  Your lung cancer can be EGFR or ALK positive. Your colon tumor may be KRAS positive.

Doctors and biogenetic labs will scan not just single genes or a handful, but also complete genomes.

The challenge then becomes figuring out what it all means and what to do next.

While personalized medicine is escalating and becoming more familiar, while still in its infancy, with limited products available on the market that have penetrated the awareness of the average consumers.

Consumers and family members are not asking the question ‘Is this therapy going to work for me?’

Personalized medicine can be more than a little overwhelming; you’re not alone if you are lost with the concepts. This is an approach to healthcare or a current treatment plan that may not be 100% effective for all patients on its head.

Carol Forden The Impact of Personalized Medicine  The days of one-size-fits-all traditional medicine are changing; all be it slowly. The evidence needs to be in place before you’re willing to move away from the traditional form of medicine delivery.

To effect change, you have to show that what you’re developing is promising and is an improvement over current treatments.

Today, researchers have discovered more than 1,800 disease genes since the Human Genome Project’s completion in 2003. Presently, over 2,000 genetic tests are available for human conditions, and 350 biotechnology-based products are in clinical trials.

The treatment of lung cancer is one of the most advanced areas of personalized medicine; there are several drugs already approved by the FDA and more in clinical trials for different lung cancer biomarkers.

Who Pays for Genetic Testing is a Problem that Needs A Solution….

When the FDA ties a genetic mutation to a particular drug or treatment, insurers do cover the testing and treatment.

If you have a family medical history, most insurance companies will pay for BRCA1 testing (in fact, the Affordable Care Act requires it). Where there is no such definite tie, health insurance carriers have a judgment call to make, and it’s not an easy call.

Cancer patients are more likely to have their tests covered. Insurance companies have a vested interest – they don’t want to prescribe drugs that won’t work. Insurance companies want to see evidence that whatever they pay for works better than what they have been paying for.

This has been one barrier to innovation.

Whole genome sequences, have uncertainties about outcomes are significant, but gene sequencing is getting cheaper all the time.

San Diego based, Illumina, a genetic-sequencing company has a system that has brought the cost gene sequencing of a human genome down to less than $1,000.

Despite this, it doesn’t put a gene sequencer in your doctor’s office — and does not cover the cost of interpreting those results.   It does make it easier for clinicians and medical researchers to continue to pull together the needed evidence required to push personalized medicine past the tipping point and into mainstream medicine.

The D.C.-based Personalized Medicine Coalition has made it a priority to define the levels of medical evidence that will be required by the Centers for Medicare & Medicaid Services and private insurers a top priority.

Regardless, if a treatment or drug is outside medical guidelines, reimbursement is unlikely, as it should be.

Medicine needs to be evidence-based.

Reimbursement is right up there with research regarding priorities.

The Big Question – Who Owns the Data?

Carol Forden The Impact of Personalized Medicine  With any data come issues and ethical and practical dilemmas around privacy, access, ownership, and more, that must be addressed.

Commonly, clinical trial participants aren’t given clinical results at all. Companies like Myriad Genetics, the primary provider in the USA of BRCA1 testing, have returned individual testing results directly to doctors and patients, of course, but Myriad has kept the bulk of its data as a trade secret.

Under current HIPAA laws, patients are the rightful owners of their genetic data.

This data can be used for medical research.   It is highly unlikely that your or anyone else’s identity will be or could be disclosed from blinded data set to a commercial third party in any identifiable way. Academic medical centers may partner with pharmaceutical companies, using their genomic data, but will do it anonymously and only with patient consents.

The patient is in control of what they allow to be used, as they should be.

HIPPA, the Health Insurance Portability and Accountability Act along with sections of the Affordable Care Act protect personal health information and its necessary privacy, this prevents job and other discrimination.

In 2008, the Genetic Information Nondiscrimination Act (GINA) was passed.  This acts bars employers and health insurers from using genetic information or family history as a form of discrimination. Despite the passage of this law, many people worry about teh fact that this personal and sensitive information is out there in a database. Genomic data is at the core of personalized medicine.

To enable personalized medicine, the USA must have full adoption of EMR’s [eletronic medical records]. The ability to deliver genomic content to providers at their desktop is necessary.

The mechanics of how you deliver massive amounts of data to clinicians in the office and at the bedside is critical.

Healthcare is getting there slowly but surely.  The advent of Value-Based Healthcare has speed up the increase and ability to adopt personalized medicine.

The Obama administration started moving the US healthcare system toward electronic records in the summer of 2009. Today, more than 50 percent of medical records are available in electronic form.

Getting to 100 percent, and having an electronic medical record isn’t going to be enough, there needs to be software focused on the genomic content delivery to the healthcare provider.

Under ideal circumstances, doctors could tap into a single, large database filled with anonymous genetic information — biomarkers tied to patient demographics related to specific drugs and treatments — to help doctors make decisions about each’s medical path.

This will be a long road, with many highs and lows along with plenty of bumps, hurdles, and detours along the way.

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