For a physician to effectively treat a patient, it is important to have a complete diagnostic overview of the individual such as physiological factors (age, sex, and pre-existing diseases), renal and liver function, environment factors (lifestyle, such as tobacco, alcohol use, and co-administered drugs), and pharmacogenetic information. The goal for the physician is to collect the proper information and determine the best therapeutic strategy.
Generating pharmacogenetic (PGx) reports can be a sizeable task for laboratories. The challenge is to present complex PGx-related information in an easily interpretable report to assist physicians in providing effective patient care. The National Academy of Clinical Biochemistry (NACB) created general guidelines for pharmacogenetic result interpretation and reporting in their 2010 Laboratory Medicine Practice Guidelines, Laboratory Analysis and Application of Pharmacogenetics to Clinical Practice.
This guideline covers general information on pharmacogenetics, pharmacology, population genetics, quality control, reporting and interpretations, clinical considerations, drug monitoring, and regulatory considerations.
Chapter 5, “Reporting and Interpretation of Pharmacogenetic Test Results,” focuses on general recommendations when preparing pharmacogenetic reports:
- Educational resources
- Drug substrates
- Test interpretation support
- Analytical methodology and known assay limitations
- Confidentiality and security of patient results
Now let’s take a quick look at each recommendation and the objective:
Education Resources and Guidance
Understanding CYP genes and drug metabolism can be a valuable tool for physicians. Drug treatment can be tailored through a selection of therapies, and physicians can identify how previously prescribed medications impacted patient care. These measures may ultimately have a direct positive impact on the patient.
Drug Substrates
This recommendation provides a table of substrates, and includes a few examples of interactions that would alert the physician to possible unfavorable interactions. Ideally, a record may include a patient’s current or past drug regimen.
Interpretation Support
Interpreting genotyping reports can be complex, as a number of factors play a role in how a patient will respond to certain drugs. Direct communication between the physicians and laboratories can help transfer information appropriately.
Analytical Methodology
The purpose here is to channel the clinical findings along with known assay limitations. This recommendation reflects requirements made by CAP for molecular diagnostic tests.
Security of Patient Reports
Dissemination of a laboratories reported findings should comply with all defined regulations. This is typically determined by the geographic location of the laboratory and the test result recipient. Both parties need to comply with guidelines—for example, Health Insurance Portability and Accountability Act of 1996 (HIPAA), if in the United States.
Interested in learning more about Pharmacogenetic testing? Visit the Luminex website.