It has been 55 years since the discovery of the structure of DNA, and 40 years since James Watson published his account of that discovery in his book, “The Double Helix.” (A picture of my autographed copy is below.)
Ever since DNA was discovered to code for the structure of most living things, there has been the hope that understanding abnormal genetics would lead to the ability to treat or cure a vast array of illnesses. Unfortunately, that progress hasn’t been as rapid as originally hoped. But medical science is now beginning to put genomic research discoveries into actual medical practice, and start customizing medical treatments based upon each individual patient’s genetic makeup – the fundamental concept of “Personalized Medicine.”
What are genetic tests and how are they used?
The simplest genomic tests are those that inform a clinician about the choice and/or dosage for a medicine to treat an individual patient. This type of test is generally easy for clinicians understand and use since it provides information that it is very similar to antibiotic resistance testing – a test that clinicians have used for decades. Currently, this type of genetic testing to guide pharmaceutical treatments is being used to guide chemotherapy for cancer – where the genomic make-up of the cancer cells can indicate susceptibility or resistance to certain medicines. It is also being used in a few other ways, including identifying individuals whose genetic make-up indicates that they should receive lower (or sometimes higher) dosages of certain medicines.
New Reports on Personalized Medicine
Several publications and reports have come out recently about advances in Personalized Medicine. The most recent of these was three articles in the November/December issue of Health Affairs. These articles point out the challenges for turning scientific advances into better clinical and economic outcomes. In discussing this very broad issue these articles emphasize the progression from the laboratory, to clinical research tools, to clinically useful tests that can provide information to guide medical care, to actual treatments designed to interact with or alter the individual’s genetic makeup.
There are obviously many additional facets and nuances to this progression, and it is a very challenging road on which reimbursement plays a very important part in determining speed of development and research priorities. That is, reimbursement amounts and policies not only influence access to genetically-based tests and treatments, but they also create incentives that guide the development of future tests and treatments.
Another recent publication is from FasterCures, titled “Patients’ and Consumers’ Interests and Perspectives in Personalized Healthcare.” This paper provides patient perspectives – which are not overtly addressed in the Health Affairs articles. To present a broad picture of patients’ perspectives, FasterCures surveyed various groups and individuals, and they found that:
- Patients are just beginning to understand the concept and potential of “personalized medicine” – although the term may not be recognized or fully understood by many people.
- Many see personalized healthcare as an advancement that should be consistent with and support “patient-focused care,” and that it should help improve the quality and cost-effectiveness of healthcare. However, many also recognized that new tests and treatments have the potential for increasing total healthcare costs – at least in the short-term.
- Patients want to be educated and involved, not only in their direct clinical decisions, but also in the research and development process that relates to their particular health concerns. And there was also a recognition of the tension between genetic testing being available, and the results of those tests being meaningful and useful. (This tension was also discussed in the Health Affairs papers.)
- And of course, patients are concerned about the privacy of their genetic information.
The FasterCures paper concludes with a 4 point Action Plan for speeding the process of making personalized healthcare a reality:
- Involve Patients in Medical Research
- Transform the Drug Development Process
- Protect Patient Privacy
- Focus on and Deliver Patient-Centered Care
Growing Interest and Meeting Information Demands
Interest in applying genomic research to clinical medicine is clearly growing, and genetic tests and treatments will increasingly become standards of care. For this to happen, clinicians, patients, and other key stakeholders will need a greater understanding of these tests and treatments, and their proper role in clinical care:
Clinicians will need to keep up-to-date about the latest clinical applications involving genetic tests and treatments so they can educate patients in their role as “learned intermediaries” – the term sometimes used to describe how clinicians explain to patients what is causing their medical problems and what are the best treatment options.
Patients will need to be educated about the value and meaning of possible genetically based tests and treatments. And while physicians can do some of this educating, they have limited time. This gap has begun to be filled by Genetics Educators – a masters level clinician who can work with patients to help them understand the implications of the results of any genetic tests or family history. While there is currently a shortage of Genetics Educators, in the future they may fill a role much like nutritionists do for diabetics, but for a wide range of genetically based tests, treatments and conditions.
And lastly, recognizing that there is a rapidly expanding need to educate other key stakeholders about genomic issues, the Personalized Medicine Coalition (PMC) was formed just over 4 years ago to “to foster understanding and adoption of personalized medicine for the benefit of patients.” The PMC was started by a couple of dozen biotechnology, pharmaceutical and information technology companies and groups, but has grown into a much larger coalition that includes academic institutions, government agencies, patient advocacy groups, payers, clinical testing companies, and others. Collaboration among these types of groups that will be necessary for developing, validating, determining appropriate uses and reimbursements for genetically based tests and treatments so that Personalized Medicine will become part of the solution for increasing the quality and cost-effectiveness of healthcare.