Rachel Mills

Primary care physicians' knowledge of and experience with pharmacogenetic testing.

It is anticipated that as the range of drugs for which pharmacogenetic testing becomes available expands, primary care physicians (PCPs) will become major users of these tests. To assess their training, familiarity, and attitudes toward pharmacogenetic testing in order to identify barriers to uptake that may be addressed at this early stage of test use, we conducted a national survey of a sample of PCPs. Respondents were mostly white (79%), based primarily in community‐based primary care (81%) and almost evenly divided between family medicine and internal medicine. The majority of respondents had heard of PGx testing and anticipated that these tests are or would soon become a valuable tool to inform drug response. However, only a minority of respondents (13%) indicated they felt comfortable ordering PGx tests and almost a quarter reported not having any education about pharmacogenetics. Our results indicate that primary care practitioners envision a major role for themselves in the delivery of PGx testing but recognize their lack of adequate knowledge and experience about these tests. Development of effective tools for guiding PCPs in the use of PGx tests should be a high priority.

Clinical delivery of pharmacogenetic testing services: a proposed partnership between genetic counselors and pharmacists.

One of the basic questions in the early uses of pharmacogenetic (PGx) testing revolves around the clinical delivery of testing. Because multiple health professionals may play a role in the delivery of PGx testing, various clinical delivery models have begun to be studied. We propose that a partnership between genetic counselors and pharmacists can assist clinicians in the delivery of comprehensive PGx services. Based on their expert knowledge of pharmacokinetics and pharmacodynamics, pharmacists can facilitate the appropriate application of PGx test results to adjust medication use as warranted and act as a liaison to the healthcare team recommending changes in medication based on test results and patient input. Genetic counselors are well-trained in genetics as well as risk communication and counseling methodology, but have limited knowledge of pharmaceuticals. The complementary knowledge and skill set supports the partnership between genetic counselors and pharmacists to provide effective PGx testing services.

Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding

With the emergence of electronic medical records and patient portals, patients are increasingly able to access their health records, including laboratory reports. However, laboratory reports are usually written for clinicians rather than patients, who may not understand much of the information in the report. While several professional guidelines define the content of test reports, there are no guidelines to inform the development of a patient-friendly laboratory report. In this Opinion, we consider patient barriers to comprehension of lab results and suggest several options to reformat the lab report to promote understanding of test results and their significance to patient care, and to reduce patient anxiety and confusion. In particular, patients’ health literacy, genetic literacy, e-health literacy and risk perception may influence their overall understanding of lab results and affect patient care. We propose four options to reformat lab reports: 1) inclusion of an interpretive summary section, 2) a summary letter to accompany the lab report, 3) development of a patient user guide to be provided with the report, and 4) a completely revised patient-friendly report. The complexity of genetic and genomic test reports poses a major challenge to patient understanding that warrants the development of a report more appropriate for patients.

Delivering pharmacogenetic testing in a primary care setting

Pharmacogenetic testing refers to a type of genetic test to predict a patient’s likelihood to experience an adverse event or not respond to a given drug. Despite revision to several labels of commonly prescribed drugs regarding the impact of genetic variation, the use of this testing has been limited in many settings due to a number of factors. In the primary care setting, the limited office time as well as the limited knowledge and experience of primary care practitioners have likely attributed to the slow uptake of pharmacogenetic testing. This paper provides talking points for primary care physicians to discuss with patients when pharmacogenetic testing is warranted. As patients and physicians become more familiar and accepting of pharmacogenetic testing, it is anticipated that discussion time will be comparable to that of other clinical tests.

Pilot study of pharmacist-assisted delivery of pharmacogenetic testing in a primary care setting

AIM To describe the rationale and design of a pilot program to implement and evaluate pharmacogenetic (PGx) testing in a primary care setting. STUDY RATIONALE Several factors have impeded the uptake of PGx testing, including lack of provider knowledge and challenges with operationalizing PGx testing in a clinical practice setting. STUDY DESIGN We plan to compare two strategies for the implementation of PGx testing: a pharmacist-initiated testing arm compared with a physician-initiated PGx testing arm. Providers in both groups will be required to attend an introduction to PGx seminar. Anticipated results: We anticipate that providers in the pharmacist-initiated group will be more likely to order PGx testing than providers in the physician-initiated group. CONCLUSION Overall, we aim to generate data that will inform an effective delivery model for PGx testing and to facilitate a seamless integration of PGx testing in primary care practices.

Incorporation of pharmacogenetic testing into medication therapy management

AIM To assess feasibility and patient satisfaction with a pharmacist-delivered medication therapy management (MTM) plus pharmacogenetic (PGx) testing service. METHODS Thirty patients from a cardiology outpatient clinic were enrolled to attend two MTM sessions, undergo PGx testing and complete pre- and post-intervention surveys. Outcome measures included duration of MTM sessions, clinical application of test results, self-reported medication adherence, patient recall of results and perceived value of testing and MTM. RESULTS Overall, patients were very satisfied with the MTM plus PGx testing service. About half of participants (47%) were able to accurately recall their PGx test results. Comparable to MTM without PGx testing, the first MTM session averaged 40 min and the follow-up MTM session averaged 15 min. CONCLUSION PGx testing incorporated into a clinical MTM service offered by pharmacists may be a feasible delivery model and is satisfactory to patients.

Genomic Counseling: Next Generation Counseling

Personalized medicine continues to expand with the development and increasing use of genome-based testing. While these advances present new opportunities for diagnosis and risk assessment, they also present challenges to clinical delivery. Genetic counselors will play an important role in ushering in this new era of testing; however, it will warrant a shift from traditional genetic counseling to “genomic counseling.” This shift will be marked by a move from reactive genetic testing for diagnosis of primarily single-gene diseases to proactive genome-based testing for multiple complex diseases for the purpose of disease prevention. It will also require discussion of risk information for a number of diseases, some of which may have low relative risks or weak associations, and thus, may not substantially impact clinical care. Additionally, genomic counselors will expand their roles, particularly in the area of health promotion to reduce disease risk. This additional role will require a style of counseling that is more directive than traditional counseling and require greater knowledge about risk reducing behaviors and disease screening.

Community pharmacists’ experience with pharmacogenetic testing

OBJECTIVE Appendix 1 Statements of knowledge of correct medication use Appendix 2 Statements of self-efficacy of correct medication use Appendix 3 Statements of skills of correct medication use To characterize the experiences and feasibility of offering pharmacogenetic (PGx) testing in a community pharmacy setting. DESIGN Pharmacists were invited to complete a survey about PGx testing for each patient who was offered testing. If the patient consented, pharmacists were also asked to complete a follow-up survey about the process of returning PGx testing results to patients and follow-up with the prescribing provider. SETTING Community pharmacies in North Carolina from August through November 2014. PARTICIPANTS Pharmacists at five community pharmacies. MAIN OUTCOME MEASURES Patient consent for testing, time to introduce PGx testing initially and communicate results, interpretation of test results, and recommended medication changes. RESULTS Of the 69 patients offered testing, 56 (81%) consented. Pre-test counseling typically lasted 1-5 minutes (81%), and most patients (55%) did not have any questions about the testing. Most pharmacists reported test results to patients by phone (84%), with discussions taking less than 1 minute (48%) or 1-5 minutes (52%). Most pharmacists believed the patients understood their results either very well (54%) or somewhat well (41%). Pharmacists correctly interpreted 47 of the 53 test results (89%). All of the incorrect interpretations were for patients with test results indicating a dosing or drug change (6/19; 32%). Pharmacists reported contacting the ordering physician for four patients to discuss results indicating a dosage or drug change. CONCLUSION The provision of PGx services in a community pharmacy setting appears feasible, requiring little additional time from the pharmacist, and many patients seem interested in PGx testing. Additional training may be necessary to improve test result interpretation, as well as for communication with both patients and ordering physicians.

Impact of Delivery Models on Understanding Genomic Risk for Type 2 Diabetes

Background: Genetic information, typically communicated in-person by genetic counselors, can be challenging to comprehend; delivery of this information online - as is becoming more common - has the potential of increasing these challenges. Methods: To address the impact of the mode of delivery of genomic risk information, 300 individuals were recruited from the general public and randomized to receive genomic risk information for type 2 diabetes mellitus in-person from a board-certified genetic counselor or online through the testing companys website. Results: Participants were asked to indicate their genomic risk and overall lifetime risk as reported on their test report as well as to interpret their genomic risk (increased, decreased, or same as population). For each question, 59% of participants correctly indicated their risk. Participants who received their results in-person were more likely than those who reviewed their results on-line to correctly interpret their genomic risk (72 vs. 47%, p = 0.0002) and report their actual genomic risk (69 vs. 49%, p = 0.002). Conclusions: The delivery of personal genomic risk through a trained health professional resulted in significantly higher comprehension. Therefore, if the online delivery of genomic test results is to become more widespread, further evaluation of this method of communication may be needed to ensure the effective presentation of results to promote comprehension.

Pharmacogenetic information for patients on drug labels.

Advances in pharmacogenetic research have improved our understanding of adverse drug responses and have led to the development of pharmacogenetic tests and targeted drugs. However, the extent of the communication process and provision of information to patients about pharmacogenetics is unclear. Pharmacogenetic information may be included in sections of a drug’s package insert intended for patients, which is provided directly to patients or communicated via the health provider. To determine what pharmacogenetic information, if any, is included in patient-targeted sections of the drug label, we reviewed the labels listed in the US Food and Drug Administration’s Table of Pharmacogenomic Biomarkers in Drug Labels. To date, 140 drugs include pharmacogenetic-related information in the approved label. Our analysis revealed that pharmacogenetic information is included in patient-targeted sections for a minority (n=29; 21%) of drug labels, with no obvious pattern associated with the inclusion of pharmacogenetic information. Therefore, patients are unlikely to learn about pharmacogenetics through written materials dispensed with the drug. Given that there are also inconsistencies with regard to inclusion of pharmacogenetic information in the patient counseling information section, it is also unlikely that patients are receiving adequate pharmacogenetic information from their provider. The inconsistent presence of pharmacogenetic information in patient-targeted sections of drug labels suggests a need to review the criteria for inclusion of information in patient-targeted sections in order to increase consistency and patient knowledge of pharmacogenetic information.