If doctors could rely on crystal balls and peer into the genomics of each patient to prescribe the right treatment at the right time, then delivering Personalized Medicine (PM) would be easy and health, rather than disease, would be a way of life.
From the very first step in the process—collecting personal genomic data through diagnostic testing—to the translation and integration of that data into customized healthcare decisions and optimal therapies for individual patients, personalized medicine is a complex process.
In recent years, PM strategies have evolved from pharmacogenomic interventions to encompass other health and medicine specialties such as nutrigenomics. Proponents of PM say it is the future of medicine. It offers a more targeted treatment approach, specific to the individual patient and, based on their unique genome, provides better opportunity for early diagnoses and intervention, more effective treatment, and more efficient development of medicines and therapies.
In 2013, the FDA demonstrated its commitment to this significant and emerging area of medicine. The agency’s report, “Paving the Way for Personalized Medicine: FDA’s role in a New Era of Medical Product Development" (PDF), outlines steps that need to be taken in order formulate regulatory standards, tools and methods for personalized therapeutics and diagnostics, including the integration of genetic and biomarker information for clinical use and drug development.
Roberta Kline MD, FACOG is a specialist in clinical training and patient education for genomics and personalized medicine. She is co-founder and CEO of both Genomic Solutions Now and the Genesis Center 4 Personalized Health. Through these organizations, Dr. Kline and her partner, Dr. Joe Veltmann help clinicians around the world learn how to understand and apply genomic testing and interpretation in their practices.
Dr. Kline shared her insight with The Progressive Physician about the role of PM in disease risk assessment, intervention and treatment, and how clinicians can start to integrate PM in their medical practice.
Q: What exactly are we talking about when it comes to genomics and the disease process?
A: With genomics, we are not talking about inherited genes where the disease process is inevitable and a person cannot do anything about it, such as cystic fibrosis, BRCA1 and BRCA2 breast cancer, hemophilia, or sickle cell anemia. Genomics is in an entirely different league. We are talking about genes that have altered function, which then predisposes someone to a chronic disease especially if the altered gene function is exacerbated by a toxic environment, poor lifestyle or dietary choices, lack of exercise or a very stressful situation.
Q: What is the role of genomics and PM in disease risk assessment?
A: Knowing a person’s genomic "anatomy" helps reduce or eliminate guessing about chronic disease(s) for which a person may be at risk. Instead of relying on family history, or waiting until disease signs and symptoms appear, genomic testing gives the person and his/her healthcare professional an opportunity to mitigate or even prevent the disease process.
For example, most breast cancer is related to estrogen metabolism, and most women who develop this most common form of breast cancer have no family history, and thus don’t know their risk.
A genomic test can empower a woman with knowledge about her risk and, with the help of her healthcare professional, develop disease-preventing interventions and screening tools that are individualized to her specific health needs.
Q: What about intervention and treatment?
A: Most of medicine recommends a one-size-fits-all approach on eating right, exercising, reducing stress, etc. Conclusions drawn from population-based studies are often in conflict with one another about a particular dietary, lifestyle or exercise recommendation because all study subjects are considered genetically identical. Wrong. While all humans share about 99.9 % of the same genetic information, the 0.1% makes us all unique, and special—extending even to what each person uniquely needs to support his/her health.
Genomic testing, and interpretation of those results, enables a healthcare professional to personalize diet and lifestyle recommendations, supplements and medications. It helps them know how best to monitor the effectiveness of those interventions, and where to focus healthcare resources for screening and diagnostic testing.
For instance, there are many conflicting studies about vitamin D and its impact on health. Vitamin D is a complex hormone (it’s not actually a vitamin) that is involved in many biochemical and metabolic pathways in the body. If an individual has a genomic error (we call them SNPs or single nucleotide polymorphisms) in one or more of the many genes involved in synthesizing vitamin D, delivering it to tissues and finally to a cell, the dosage requirements and measurement standards will be different. Genomic testing helps a healthcare professional know what a particular person needs based on their DNA.
Pharmacogenomics is the study of how a person's genes can influence the potential effectiveness of a medication, whether a person might experience drug-induced side-effects, or how a medication might interact with other pharmacological or over-the-counter medications or botanical extracts. It does not take a long to realize that if pharmacogenomics testing is employed by a healthcare professional before a prescription is filled, it greatly improves outcomes and decreases potential side effects, saving the person and healthcare professional time, money and aggravation.
Q: How can clinicians learn about and integrate these methods into their medical practice? What clinical skills do they require?
A: The one key I have realized in the time I have been using genomic testing is the need to understand biochemistry. Not the type of biochemistry that was taught in medical school, but a very practical and applied approach, which dovetails with the way clinicians process information and look for patterns.
While knowing the basic concepts and biochemical pathways are not a prerequisite to utilizing genomic testing, it certainly helps when discussing nutrigenomic recommendations with a patient, and knowing how to use the information clinically.
Several resources exist for clinicians wanting to learn more about genomics, and I highly recommend taking online courses or going to conferences to supplement your current knowledge. Training in functional medicine will help you not only understand the biochemistry of the various metabolic systems, but also provide insights into lifestyle-based interventions.
I found the best way to shorten the learning curve is to do a genomic test on yourself or other family members. By walking through your own genomics, the "eureka" moments come faster, and you can speak with confidence and authenticity to your patients. Finding a mentor, who has had several years of experience in a clinical environment and can show you how to integrate the genomic test information into a health model, is another way speed up the learning process.
If you are thinking about introducing genomic testing into your clinical practice, I recommend you select a genomic testing company that offers specific test panels for the health concerns you see most often and that best fits your current patient population. Identify one or two patients most likely to benefit from this new technology and your new knowledge. If your patient population currently takes multiple medications, you may want to start with pharmacogenomic testing.
If you have patients with many of the lifestyle-related chronic diseases (cardiovascular disease, diabetes, obesity, or osteoporosis) start with a genomic panel that identifies and recommends evidence-based nutrigenomic strategies. Some genomic test panels are fairly small, some are extensive. Start with a small panel to develop confidence.
It is good to remember that not all genomic testing companies are created equal--use a genomic testing company that understands the clinical implications of their tests, provides useful interpretations and evidenced-based action steps, and presents the information in a user-friendly format. Succinct, concise, and easy genomic test results make it easy for busy clinicians to interpret the data and to convey the most important information to a patient.
Combining a patient's medical history, health concerns and genomic test results is the best way to create plan, prioritizing the most important health issues on the first visit and lesser health concerns in subsequent weeks. The first visit may take longer; patients get really excited about genomic information and ask lots of questions so just be prepared. After going through this process with 3-4 patients, you feel much more proficient and ready to progress to more patients with other health concerns. Ultimately, having all patients do genomic testing as I do in my practice helps personalize and prioritize their care, actually reduces healthcare costs and improves patient outcomes. And, just as important, it makes the life of a healthcare professional much less hectic, because you and the patient have created a personalized plan together.
"Paving the Way for Personalized Medicine: FDA’s Role in a New Era of Medical Product Development" (PDF)
"Personalized Medicine 101: The Promise" from Personalized Medicine Coalition
Journal Resource for Personalized Medicine
Clinical Research - National Human Genome Research Institute
CDC Office of Public Health Genomics Genomic Solutions Now: For Clinicians, by Clinicians