Introducing Patients to Pharmacogenetic Testing in Your Medical Practice

Precision Medicine Primer For Primary Care Physicians & Doctors

Implementing Pharmacogenomics In Your Medical Practice

Introducing Pharmacogenetics Testing to Your Medical Practise

What Are The Benefits of Precision Medicine?

Precision Medicine, Pharmacogenetic Testing, and Pharmacogenomics are all interrelated fields and for our intents and purposes can be considered synonyms. The overlapping theme of precision medicine, pharmacogenetics, and genetic testing is the idea that utilizing patient genetic data to provide healthcare can provide better outcomes across many different medical disciplines from advising patients about dieting to prescribing medications and in more extreme examples understanding and dealing with cancers and other hereditary genetic disease. Some of the potential benefits of precision medicine are:
New tools that can build, analyze, and share large patient data sets without compromising patient data protections. HIPAA compliance is a major aspect of genetic testing and many consumers are increasingly more aware of data privacy and are concerned with how their genetic data is being used by genetic testing companies that provide direct to consumer genetic testing.
Improvement of FDA oversight of new drug development, tests, and new medical technologies ensuring that these products are safe for patients in the long run.
New partnerships between differing fields of medicine across a wide range of specialities, people from patient advocacy groups, research institutions, universities with precision medicine programs, pharmaceutical companies, genetic testing companies, and large established genetic databases with

Precision Medicine Initiative 2018

The Precision Medicine Initiative is a long-term research endeavor, involving the National Institutes of Health (NIH) and multiple other research centers, which aims to understand how a person’s genetics, environment, and lifestyle can help determine the best approach to prevent or treat disease.

The Precision Medicine Initiative has both short-term and long-term goals. The short-term goals involve expanding precision medicine in the area of cancer research. Researchers at the National Cancer Institute (NCI) hope to use an increased knowledge of the genetics and biology of cancer to find new, more effective treatments for various forms of this disease. The long-term goals of the Precision Medicine Initiative focus on bringing precision medicine to all areas of health and healthcare on a large scale. To this end, the NIH is planning to launch a study, known as the All of Us Research Program, which involves a group (cohort) of at least 1 million volunteers from around the United States. Participants will provide genetic data, biological samples, and other information about their health. To encourage open data sharing, participants will be able to access their health information, as well as research that uses their data, during the study. Researchers will use these data to study a large range of diseases, with the goals of better predicting disease risk, understanding how diseases occur, and finding improved diagnosis and treatment strategies.

Precision Medicine Initiative Under President Trump

Starting this spring, Americans across the country will be invited to contribute to a massive new pool of genomic information being assembled by the government, a project that represents the most ambitious effort yet to capitalize on the promising new frontier of gene-based medicine.
Three years after the National Institutes of Health first announced its Precision Medicine Initiative — subsequently redubbed “All of Us” — the agency’s director, Francis Collins, says the large-scale project is ready to expand beyond its initial testing stages. In early spring, on a date yet to be announced, NIH is planning a nationwide launch to start enrolling what it hopes will eventually be as many as 1 million participants.

How To Discuss Pharmacogenetic Testing With Your Patients

Many healthcare providers and doctors may be wondering how to discuss pharmacogenetic testing with their patients. We have a primer on discussing the potential of precision medicine with patients in your practice below.

How will you explain decades of pharmacogenetic science and drug metabolism to the patient? Where will you go to find the most up-to-date pharmacogenetic guidelines? How will you get prepared?

For pharmacogenetic testing in community pharmacy to be successful, I think pharmacists need to be mindful of their responsibilities to patients and prescribers. Pharmacists who counsel patients on pharmacogenetic test results should initiate and close communication loops to ensure the highest level of patient safety and transparency of information with prescribers. If patients receive their genetic test results without counseling from a trained professional, they may lose confidence in their medications and decide to self-adjust or discontinue them due to misinterpretation of the test results. This is a major concern regarding direct-to-consumer testing.

Pretest education may be important for patients to ensure they really understand what a pharmacogenetic test is and is not. These tests are typically specific to medications and do not diagnose, or assess for the likelihood of, cancer, Alzheimer’s disease, or other disease states; therefore, it is important for your patients to understand exactly what to expect from their results. Here is an example of how this information could be presented to a patient:

This pharmacogenetic test searches your genes for variations that may change how you metabolize or break down a medication. The test results will divide the medications into categories designated by red, yellow, and green. So, if you get a “green check” for a medication on a pharmacogenetic test, all it means is that you break down this medication as we expect and all the standard precautions apply. However, getting a “go light” on a pharmacogenetic test does not mean the medication will work for you 100% or that it will not cause any unwanted side effects.

Another reason for pretest education is to ensure that patients understand that pharmacogenetics is only 1 piece of the puzzle. We know drug metabolism is affected by many factors, such as smoking, liver function, kidney function, age, gender, and other drugs. The patient’s PCP should have a complete picture of the patient’s medical profile; therefore, the PCP has the final say on the best course of action in the patient’s care. It should be emphasized that identification of a genetic implication does not mean that the patient will not respond to a medication or experience an adverse drug event.

To improve comprehension, 5 strategies can be used when talking to patients about genetic results:
1)Use effective risk-communication strategies by tailoring the information to the patient’s needs and concerns.
2)Inform patients what, if any, genetic implications should be discussed with their PCP.
3)Educate patients on relevant results for potential treatments or preventive care counseling.
4)Coordinate with the patient’s PCP, as necessary.
5)Give the patient a summary of the results.