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Precision medicine: hospitals must learn to provide solutions

By Joel Diamond, M.D.

As physicians, we want to offer the best possible care plan for every patient, every time. We want tools that help us incorporate the many factors that affect each individual. This is where precision medicine comes in.

Precision medicine is an emerging approach to treat and prevent disease that considers individual variability in genes, environment and lifestyle for each person.

The good news for patients today is that healthcare is overcoming some of the challenges that have kept precision medicine from going mainstream. For example, there is an increasing number of genetic diagnoses, while at the same time, the costs to sequence a human genome are reducing.

Perhaps the most significant force propelling precision medicine forward is a growing interest from patients.

Patients find genomics more appealing than ever.

In my practice, I have seen a sharp rise in the number of patients asking about genetic and genomic tests. Healthcare consumers are drawn to the idea that this information can unlock answers to persistent health problems, or reveal risk for future issues. And a proliferation of accessible, affordable testing has whet their appetite for much more.

Many people have experienced personalized genetic testing. These tests look at single nucleotide polymorphisms, or SNPs (pronounced “snips”), which are common variants in a single base pair. Results of these tests might indicate that they have the taste for bitter coffee, or have ancestors from West Africa, or are carriers for Cystic Fibrosis.

These tests are appealing to consumers because they are easy to find and relatively inexpensive. Search the web, and you’ll find hundreds of companies offering personalized medicine based on DNA data to design your perfect diet or exercise program, for example. Unfortunately, this segment can be fraught with misrepresentation on the outcomes.

Certainly, large population comparisons of linked SNP data will help advance science, but many of my patients have felt that their experience with genetic testing was little more than a parlour trick.

Next Generation Sequencing (NGS) can be much more comprehensive. Whole genome testing includes all 3 billion nucleotides or base pairs. More practically, exome testing includes only the part of our DNA that codes for proteins. Despite surprisingly consisting of only about 2% of the entire genome, it accounts for over 20,000 genes and contains over 85% of disease variants known today.

How does precision medicine work at the point of care?

Let’s look at the potentially genetic disorder of hyperlipidemia as an example. Hyperlipidemia is an abnormally high concentration of fats or lipids such as cholesterol and triglycerides in the blood. These conditions double the risk for heart disease.

According to Canadian Health Measures, about one in five (19%) Canadian adults has unhealthy levels of low-density lipoprotein (LDL), or “bad” cholesterol. Many adults over 40 are taking drugs to lower their LDL (high-dose statins). Unfortunately, patients who have the inherited version of the condition will not respond to this class of drugs.

Recently a new class of drugs, called PCSK9 inhibitors, have been found to be very effective to treat this condition in the familial form. They can be expensive, so it’s important to prescribe for patients that will respond best to them.

Four trends to watch as precision medicine reaches the point of care

As a physician, I see great promise in genomics and precision medicine to enable smarter, more precise care. Consumer interest is growing, which brings new challenges and opportunities for physicians. Trends include:

• Belief in the magic bullet. I’m seeing more and more patients who believe precision medicine will be the cure and key for every health issue, especially when diagnosis or treatment is difficult.

There is ample reason to hope, but it is up to the physician to educate consumers and set realistic expectations. There are multiple factors that have a bigger impact on health than genetics. Patients are concerned about familial inheritance for diseases, when environment and lifestyle often have a greater influence.

• Prescriptive patients. We’re going to see more consumers demand specific courses of treatment based on the genetic or genomic information they have. For example, someone who finds out he or she is at risk for cardiovascular disease may request a stress test. Physicians will need new kinds of educational support to assess and stratify risk.

• Physician learning curve. Physicians are enthusiastic about the potential of personalized care plans to improve patient outcomes. But several questions remain for physicians who must put precision medicine into practice. For example, they must know which patients to test, and which tests to order for maximum predictive value. Physicians must also be able to interpret results and combine them with the patient record.

• Data outpacing science. Genomic knowledge is growing at an exponential rate, at times generating more questions than answers for researchers and physicians. We recognize many variants in DNA codes, but don’t yet know what they all mean.

The area between genes, the way the gene folds itself, the protection capabilities of genes – these are areas that are not fully understood. The science is still young, and as more patients pool their data, we will be able to determine greater numbers of genetic and genomic associations.

I believe that consumers are going to drive the growth of genomics and precision medicine, faster and more efficiently than organized medicine ever could. The explosion of data, combined with hope and promise, will only continue to accelerate.

Allscripts has a strong Canadian presence from coast to coast and the development of innovative precision tools is the most recent evolution in our 35 years of commitment to improving healthcare outcomes in Canada.

Learn more on the Allscripts approach at the e-Health Conference, Toronto, June 4-7. Dr. Diamond will be presenting at the Evolving Approaches to Patient Care session on ‘The Last Clinical Mile of Precision Medicine – Challenges at Point of Care’ (June 7, Room 201CD from 10:30am). Dr. Joel Diamond, 2bPrecise’s Chief Medical Officer, has extensive clinical and technology experience. He formerly served as CMIO and Chairman of the Physician Advisory Board at the University of Pittsburgh Medical Center, St. Margaret Memorial Hospital, where he helped achieve 100 percent adoption of CPOE in a community hospital. This is one of the first such successes in the United States. He helped develop dbMotion, a solution for health information exchange and population health, and later became the Chief Medical Officer for Population Health at Allscripts Healthcare. Dr. Diamond currently serves as Adjunct Associate Professor of Biomedical Informatics at the University of Pittsburgh. He is a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians and continues to care for patients at Handelsman Family Practice in Pittsburgh, PA.

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