• KSAs
• capacity
• competencies
• nursing practice
• personalized care
• precision health
• workforce

• United States
• Humans
• Precision Medicine/nursing
• Female
• Adult
• Male
• Middle Aged
• Surveys and Questionnaires
• Health Knowledge, Attitudes, Practice
• Reproducibility of Results
• Clinical Competence
• Attitude of Health Personnel

• consolidated framework for implementation research
• general practice
• genetic testing
• implementation
• personalized genomic medicine
• pharmacogenomics

• Humans
• Australia
• Pharmacogenomic Testing/methods
• General Practice/methods
• Qualitative Research
• Pharmacogenetics/methods
• General Practitioners
• Female
• Male
• Attitude of Health Personnel

Pharmacogenomics (PG) testing is under-utilised in Australia. Our research provides Australia-specific data on the perspectives of patients who have had PG testing and those of the clinicians involved in their care, with the aim to inform wider adoption of PG into routine clinical practice.

To investigate the frequency of actionable drug gene interactions and assess the perceived utility of PG among patients and clinicians.

We conducted a retrospective audit of PG undertaken by 100 patients at an Australian public hospital genetics service from 2018 to 2021. Via electronic surveys we compared and contrasted the experience, understanding and usage of results between these patients and their clinicians.

Of 100 patients who had PG, 84% were taking prescription medications, of which 67% were taking medications with actionable drug-gene interactions. Twenty-five out of 81 invited patients and 17 out of 89 invited clinicians completed the surveys. Sixty-eight percent of patients understood their PG results and 48% had medications changed following testing. Paired patient-clinician surveys showed patient-perceived utility and experience was positive, contrasting their clinicians’ hesitancy on PG adoption who identified insufficient education/training, lack of clinical support, test turnaround time and cost as barriers to adoption.

Our dichotomous findings between the perspectives of our patient and clinician cohorts suggest the uptake of PG is likely to be driven by patients and clinicians need to be prepared to provide information and guidance to their patients.

• Pharmacogenomics testing
• Clinical adoption
• Drug gene interactions
• Clinician perspectives
• Patient perspectives

• disparities
• equity
• genetics
• pharmacogenomics (PGx)
• precision medicine

• adverse drug reactions
• employee health
• employer health costs
• medication management
• medication safety
• pharmacogenetics

• healthcare
• hospital pharmacy
• nurse practitioner
• pharmacist
• pharmacogenetics
• pharmacogenomics
• physician

• pharmacogenetics
• anesthesiology
• perioperative care
• critical care
• prospective studies
• surveys and questionnaires

• Anesthesia
• Anesthesiology
• Humans
• Perioperative Care
• Pharmacogenetics/methods
• Prospective Studies

• R01 HG009938 NHGRI NIH HHS
• T32 GM007019 NIGMS NIH HHS
• UL1 TR000430 NCATS NIH HHS

Despite healthcare professionals (HCP) endorsing the clinical utility of pharmacogenomics testing, use in clinical practice is limited.

To assess HCP' perceptions of pharmacogenomic testing and identify barriers to implementation.

HCP involved in prescribing decisions at three hospitals in Sydney, Australia, were invited to participate. The online survey assessed perceptions of pharmacogenomic testing, including: (i) demographic and practice variables; (ii) use, knowledge and confidence; (iii) perceived benefits; (iv) barriers to implementation; and (v) operational and/or system changes and personnel required to implement on site.

HCP were predominantly medical practitioners (75/107) and pharmacists (25/107). HCP perceived pharmacogenomic testing was beneficial to identify reasons for drug intolerance (85/95) and risk of side‐effects (86/95). Although testing was considered relevant to their practice (79/100), few HCP (23/100) reported past or intended future use (26/100). Few HCP reported confidence in their ability to identify indications for pharmacogenomic testing (14/107), order tests (19/106) and communicate results with patients (16/107). Lack of clinical practice guidelines (62/79) and knowledge (54/77) were identified as major barriers to implementation of pharmacogenomics. Comprehensive reimbursement for testing and clinical practice guidelines, alongside models‐of‐care involving multidisciplinary teams and local clinical champions were suggested as strategies to facilitate implementation of pharmacogenomic testing into practice.

Pharmacogenomic testing was considered important to guide drug selection and dosing decisions. However, limited knowledge, low confidence and an absence of guidelines impede the use of pharmacogenomic testing. Establishment of local resources including multidisciplinary models‐of‐care was suggested to facilitate implementation of pharmacogenomics.

• Australia
• Interdisciplinary studies
• Pharmacogenomic testing
• Tertiary care settings
• surveys and questionnaires

Adverse drug reactions (ADRs) rank as one of the top 10 leading causes of death and illness in developed countries. ADRs show differential features depending upon genotype, age, sex, race, pathology, drug category, route of administration, and drug–drug interactions. Pharmacogenomics (PGx) provides the physician effective clues for optimizing drug efficacy and safety in major problems of health such as cardiovascular disease and associated disorders, cancer and brain disorders. Important aspects to be considered are also the impact of immunopharmacogenomics in cutaneous ADRs as well as the influence of genomic factors associated with COVID-19 and vaccination strategies. Major limitations for the routine use of PGx procedures for ADRs prevention are the lack of education and training in physicians and pharmacists, poor characterization of drug-related PGx, unspecific biomarkers of drug efficacy and toxicity, cost-effectiveness, administrative problems in health organizations, and insufficient regulation for the generalized use of PGx in the clinical setting. The implementation of PGx requires: (i) education of physicians and all other parties involved in the use and benefits of PGx; (ii) prospective studies to demonstrate the benefits of PGx genotyping; (iii) standardization of PGx procedures and development of clinical guidelines; (iv) NGS and microarrays to cover genes with high PGx potential; and (v) new regulations for PGx-related drug development and PGx drug labelling.

• Biomarkers
• Cardiovascular Diseases/drug therapy
• Central Nervous System Diseases/drug therapy
• Cost-Benefit Analysis
• Drug Development
• Drug-Related Side Effects and Adverse Reactions/genetics
• Drug-Related Side Effects and Adverse Reactions/metabolism
• Genotype
• Humans
• Neoplasms/drug therapy
• Pharmaceutical Preparations
• Pharmacogenetics/methods
• Pharmacogenetics/trends
• Phenotype
• COVID-19 Drug Treatment

• Cross-Sectional Studies
• Humans
• Pharmacists
• Pharmacogenetics
• Physicians
• United States

• R24 GM115264 NIGMS NIH HHS
• U24 HG010135 NHGRI NIH HHS

• clinical safety
• drug labels
• health policy
• medical ethics
• patient rights
• personalized medicine
• pharmacogenomics information

• feasibility
• pharmacist experience
• pharmacogenetic testing
• pharmacy

• health services
• public health

• Adult
• Age Factors
• Aged
• Black People
• Cohort Studies
• Costs and Cost Analysis
• Databases, Factual
• Drug Approval
• Drug Labeling/economics
• Drug Labeling/standards
• Ethnicity
• Female
• Humans
• Male
• Medicaid
• Medicare
• Middle Aged
• Mississippi
• Pharmacogenetics/economics
• Pharmacogenetics/statistics & numerical data
• Pharmacogenomic Testing/economics
• Pharmacogenomic Testing/statistics & numerical data
• Prescription Drugs
• Sex Factors
• United States
• United States Food and Drug Administration
• White People
• Black or African American

• Diagnostic tests
• Evidence-based medicine
• Family health
• Genetics/genomics
• Primary care
• Survey research

• General Practitioners
• Genetic Testing
• Humans
• Pharmacogenetics/methods

• Analgesics, Opioid/administration & dosage
• Analgesics, Opioid/adverse effects
• Humans
• Opioid-Related Disorders/prevention & control
• Pharmacogenetics
• Practice Patterns, Physicians'/standards
• Prescription Drug Misuse/prevention & control
• Prescription Drug Monitoring Programs/organization & administration
• Risk Assessment/methods

For the past several years, the implementation of pharmacogenetic (PGx) testing has become widespread in several centers and clinical practice settings. PGx testing may be ordered at the point-of-care when treatment is needed or in advance of treatment for future use. The potential benefits of PGx testing are not limited to adult patients, as children are increasingly using medications more often and at earlier ages. This review provides some background on the use of PGx testing in children as well as mothers (prenatally and post-natally) and discusses the challenges, benefits, and the ethical, legal, and social implications of providing PGx testing to children.

• benefit
• children
• consent
• education
• maternal health
• pharmacogenetic testing
• risk

Developing a competent workforce will be crucial to realizing the promise of genomic medicine. The preparedness of medical specialists without specific genetic qualifications to play a role in this workforce has long been questioned, prompting widespread calls for education across the spectrum of medical training. Adult learning theory indicates that for education to be effective, a perceived need to learn must first be established. Medical specialists have to perceive genomic medicine as relevant to their clinical practice. Here, we review what is currently known about medical specialists’ perceptions of genomics, compare these findings to those from the genetics era, and identify areas for future research. Previous studies reveal that medical specialists’ views on the clinical utility of genomic medicine are mixed and are often tempered by several concerns. Specialists generally perceive their confidence and understanding to be lacking; subsequently, they welcome additional educational support, although specific needs are rarely detailed. Similar findings from the genetics era suggest that these challenges are not necessarily new but on a different scale and relevant to more specialties as genomic applications expand. While existing strategies developed for genetic education and training may be suitable for genomic education and training, investigating the educational needs of a wider range of specialties is critically necessary to determine if tailored approaches are needed and, if so, to facilitate these. Other interventions are also required to address some of the additional challenges identified in this review, and we encourage readers to see education as part of a broader implementation strategy.

• genomic education
• genomic medicine
• medical specialist
• preparedness
• review
• theory
• workforce

• clinical genetics
• clinical implementation
• genomic medicine
• personalized care
• service delivery

• curriculum
• education
• pharmacists
• pharmacy

• Curriculum
• Education, Pharmacy/methods
• Education, Pharmacy/standards
• Pharmacogenetics/education
• Pharmacogenomic Testing
• Precision Medicine
• Schools, Pharmacy/organization & administration
• Schools, Pharmacy/standards
• Students, Pharmacy
• United States

• R01 GM081416 NIGMS NIH HHS

Inflammatory Bowel Disease (IBD) with its high incidence and prevalence rates in Canada generates a heavy burden of tests and procedures. The purpose of this study is to gain a better understanding of the transfer of information from physician to patient, as well as the patient understanding and perceptions about the tests and procedures that are ordered to them in the context of IBD diagnosis and monitoring.

An online questionnaire was completed by 210 IBD patients in Canada. Information on the five most-often used tests or procedures in IBD diagnosis/monitoring was collected. These include: general blood test, colonoscopy, colon biopsy, medical imaging and stool testing.

The general blood test is both the most ordered and most refused tool. It is also the one with which patients are the least comfortable, the one that generates the least concern and the one about which physicians provide the least information. The stool test is the test/procedure with which patients are the most comfortable. Procedures raise more concerns among patients and physicians provide more information about why they are needed, their impact and the risks they present. Very little information is provided to patients about the risks of having false positives or negative tests.

This study provides an initial understanding of patient perceptions, the transfer of information from a physician to a patient and a patient’s understanding of the tests and procedures that will be required to treat IBD throughout what is a lifelong disease. The present study takes a first step in better understanding the acceptance of the test or procedure by IBD patients, which is essential for them to adhere to the monitoring process.

The online version of this article (10.1186/s12876-019-0946-8) contains supplementary material, which is available to authorized users.

• Diagnostic
• Inflammatory bowel disease
• Monitoring
• Procedures
• Tests