Pharmacogenomic Testing Research Articles

Development of Rapid Pharmacogenomic Testing Assay in a Mobile Molecular Biology Laboratory (2MoBiL).

Pharmacogenomics is rapidly assuming an integral part in modern health care. Still, its broad applicability relies on the feasibility of performing pharmacogenomic testing in all clinical settings, including in remote areas or resource-limited settings with budget restrictions. In this study, we describe the development and feasibility of rapid and reliable pharmacogenomics assays using a portable molecular biology laboratory, namely the 2MoBiL (Mobile Molecular Biology Laboratory). More precisely, we demonstrate that the genotyping of rs4149056, located within SLCO1B1, can be efficiently and reliably performed using the 2MoBiL portable laboratory and conventional benchtop laboratory equipment and a gold standard genotyping method (KASP assay) as directly comparable methodologies. Taking into account the compact size of 2MoBiL, which directly and positively impacts on its portability, and the high accuracy achieved, we conclude that the 2MoBiL-based genotyping method is warranted for further studies in clinical practices at remote areas and resource-limited as well as time-constrained planetary health settings. To contextualize the broader and potential future applications of 2MoBiL, we emphasize that genotyping of a limited set of clinically relevant single-nucleotide polymorphisms is often a common endpoint of genomics and pharmacogenomics discovery and translational research pipeline. Hence, rapid genotyping by 2MoBiL can be an essential catalyst for global implementation of pharmacogenomics and personalized medicine in the clinic. The Clinical Trial Registration number is NCT03093818.

Individualizing pharmacogenomic test results in the context of the microbiome.

The field of pharmacogenetic testing was hailed as one of the early successful clinical applications arising from the personalized (or precision) medicine revolution. Substantial progress has been made to identify genes and genetic variants involved in drug response and establish clinical implementation programs. Yet, drug response is a complex trait and recent work has highlighted the key role played by the gut microbiome. As the study of the gut microbiome and pharmacogenetics converge, it may be possible to generate more precise predictions of drug response and improve health outcomes to treatments. Substantial effort will be needed to understand the dynamic impact of the microbiome and the interplay with host genetics and how to implement expanded pharmacogenetic testing.

S2481 A Case of Sertraline-Induced Hepatotoxicity Correlated With Pharmacogenomic Testing

INTRODUCTION: Sertraline is a commonly used medication for depression and anxiety and is a type of selective serotonin reuptake inhibitor (SSRI). SSRIs are generally well tolerated, but there have been a few reports of drug induced liver injury (DILI) from this exposure. There is no reliable mechanism to predict the risk of DILI from SSRIs. Pharmacogenomic (PGx) testing is a form of genetic testing analyzing alleles of enzymes involved in metabolism. This is a case of Sertraline-induced DILI further correlated by PGx testing. CASE DESCRIPTION/METHODS: A 73 year old woman with fibromyalgia and anxiety presented for evaluation of cholestatic hepatitis. 2 months prior to presentation, she was started on sertraline 75 mg daily for chronic anxiety. 4 weeks after starting the medication, she noticed pruritus and dark urine. The SSRI was discontinued, but she continued to have symptoms. Her physical exam was notable for normal vital signs with a BMI of 20.90 kg/m2, scleral icterus and excoriations but no hepatospenomegaly or stigmata of chronic liver disease. Prior to presentation, she had normal liver function testing. Her labs were notable for total bilirubin 4.7 mg/dL, direct bilirubin 3.1 mg/dL, ALP 509 U/L, AST 280 U/L, ALT 468 U/L, INR 0.9. Viral hepatitis serologies, ANA, ASMA, ceruloplasmin, liver kidney microsomal antibody, SPEP were all unremarkable. MRCP showed no biliary ductal dilation. A liver biopsy was done showing resolving cholestatic hepatitis with no evidence of autoimmune liver disease or fibrosis. Given the slow improvement in enzymes, she was referred for PGx testing. Testing revealed that the patient was an intermediate metabolizer of serotonin with an allelic variation of the SLC6A4 as well as the HTR2A gene. Eventually, her liver enzymes normalized, and she was recommended to avoid SSRIs. DISCUSSION: Sertraline is a rare yet known culprit of DILI. There is no current reliable way of predicting one’s risk of developing DILI from SSRIs. PGx testing showed that she two polymorphisms in sertraline metabolism. SLC6A4 encodes a serotonin transporter and augments the synaptic concentration of the drug. HTR2A changes also are associated with an increase in antidepressant response of higher serotonin levels. This possibly led to increased drug levels and side effects from poor metabolism of SSRIs. With further affordability, PGx testing can be considered prior to starting medications associated with DILI to avoid prescribing it to those who may be higher risk of developing it.

55.3 AN INTERACTIVE APPROACH FOR ASSESSING EVIDENCE-BASED PHARMACOGENETIC RESOURCES AND GUIDELINES

Pharmacogenomic (PGx) tests are increasingly available and utilized by clinicians to guide drug selection and dosing for younger patients. Consensus guideline groups, the FDA, and professional organizations have each assessed the scientific and clinical utility of PGx data. We will examine the current evidence and limitations of PGx through hands-on training and interactive discussion to empower prescribers to assess the relevance of PGx data for their clinic and patients.

Assessment of primary care practitioners'attitudes and interest in pharmacogenomic testing.

Aims: Identify the attitudes and interests of primary care providers (PCPs) in applying clinical pharmacogenomics (PGx) test results. Materials & methods: A questionnairewas designed and then disseminated to PCPs across theMedStar Health System. Results: Ninety of 312 (29%) PCPs responded and wereincluded in analyses. Seventy-six (84%) had heard of PGx and 12 (13%)previously ordered PGx testing. Most, 68 (76%), believed PGx can improvecare; however, a minority, 23 (26%), reported confidence in usingPGx in prescribing decisions.Sixty-four (70%) wanted a pharmacist consultation. PCPs desired PGx forantidepressants (75%), proton pump inhibitors (72%) andother medications. Conclusion: Most PCPs felt unprepared to interpret PGx results and desired pharmacist consultations. These data can inform future PGx implementations with PCPs.

Which bioethical and bio-legal guidelines should be followed when performing pharmacogenetic and pharmacogenomic tests in psychiatry clinical trials in Colombia, to protect genetic data and the rights of research subjects?

This paper is the result of research, from the bioethics and bio-legal perspectives, on the existing guidelines in Colombia for the handling of pharmacogenomic and pharmacogenetic tests in clinical trials. Colombian legislation on this kind of research was reviewed and then compared with international and supranational standards. It was found that Colombia lacks specific legislation in this area, a situation that puts both participants and researchers at risk, from bioethical and legal perspectives. These risks should not be underestimated, as they compromise the ethical viability of clinical and basic research in our setting. In the end, a proposal, based on principles of ethics is made, proposing a series of actions for the creation and promotion nationwide of guidelines which can be used to shape legislation to be applied to protect the genetic data and the rights of subjects participating in these types of research studies in Colombia.

Pharmacogenetics in Psychiatry: An Update on Clinical Usability.

Using pharmacogenetics in guiding drug therapy experiences a steady increase in uptake, although still leads to discussions as to its clinical use. Psychiatry constitutes a field where pharmacogenomic testing might help in guiding drug therapy. To address current challenges, this minireview provides an update regarding genotyping (SNP analysis/arrays/NGS), structural variant detection (star-alleles/CNVs/hybrid alleles), genotype-to-phenotype translations, cost-effectiveness, and actionability of results (FDA/CPIC/PharmGKB) regarding clinical importance of pre-emptive pharmacogenomic testing for prescription of antidepressants and antipsychotics.

First Report of Pharmacogenomic Profiling in an Outpatient Spine Setting: Preliminary Results from a Pilot Study

Pharmacogenomics may help personalize medicine and improve therapeutic selection. This is the first study investigating how pharmacogenomic testing may inform analgesic selection in patients with spine disease. We profile pharmacogenetic differences in pain medication-metabolizing enzymes across patients presenting at an outpatient spine clinic and provide preliminary evidence that genetic polymorphisms may help explain interpatient differences in preoperative pain refractory to conservative management. Adults presenting to our outpatient spine clinic with chief symptoms of neck and/or back pain were prospectively enrolled over 9 months. Patients completed the Wong-Baker FACES and numeric pain rating scales for their chief pain symptom and provided detailed medication histories and cheek swab samples for genomic analysis. Thirty adults were included (mean age, 60.6 ± 15.3 years). The chief concern was neck pain in 23%, back pain in 67%, and combined neck/back pain in 10%. At enrollment, patient analgesic regimens comprised 3 ± 1 unique medications, including 1 ± 1 opioids. After genomic analysis, 14/30 patients (47%) were identified as suboptimal metabolizers of ≥1 medications in their analgesic regimen. Of these patients, 93% were suboptimal metabolizers of their prescribed opioid analgesic. Nonetheless, pain scores were similar between optimal and suboptimal metabolizer groups. This pilot study shows that a large proportion of the spine outpatient population may use pain medications for which they are suboptimal metabolizers. Further studies should assess whether these pharmacogenomic differences indicate differences in odds of receiving therapeutic benefit from surgery or if they can be used to generate more effective postoperative analgesic regimens.

Knowledge, attitude, future expectations and perceived barriers of medical students and physicians regarding pharmacogenomics in Jordan.

Pharmacogenomics (PG) is a modern tool of personalising treatment protocols to improve the efficacy and safety of drug prescriptions. These benefits are offset by a slow uptake in clinical application due to a host of physician factors, patient factors and/or health system factors. Our study, thus, aimed to determine the knowledge, attitude, future expectations and perceived barriers of medical students and physicians in Jordan regarding PG testing. A descriptive, cross-sectional study was conducted between February and August 2019. Physicians and senior medical students from academic and non-academic institutions in North Jordan (n=424) were surveyed. A structured, self-administered questionnaire was designed and piloted for the purpose of the study. A scoring system for each dimension assessed was calculated and presented using means. Mean scores were compared by sociodemographic and professional variables. The response rate was 70.7%. The mean total PG knowledge score (±SD) was 5.42 (±1.51) out of 10, with a significantly higher mean among respondents aged <30years (5.54±1.43) compared with those ≥30years old (5.21±1.62; P=.03). The mean total PG attitude score was 21.18 (±2.58) out of 24, with significant differences by seniority levels evident (P=.03). The future expectations of PG among our sample were high, with a mean score of 10.44 (±1.64) out of 12. The top three perceived barriers in applying PG were the high cost, lack of clinical guidelines, and limited knowledge and awareness. Physicians and medical students in Jordan have low overall knowledge, albeit strongly positive attitude and future expectations towards PG, despite the perceived high cost and lack of clinical guidelines. Thus, we strongly recommend adopting a comprehensive educational strategy that aims to integrate PG concepts into medical curricula, and promote the culture of continuous medical education about PG among practitioners.

Costing Methods as a Means to Measure the Costs of Pharmacogenomics Testing.

Clinical implementation of pharmacogenomics and personalized medicine interventions relies on addressing important financial aspects of the delivery of genetic testing to the patients, be it from public or private providers. Details on how to determine the cost items of the genetic testing are often limited. The goal of this study is to present a costing methodology in order to estimate and measure the costs as far as the technical process of pharmacogenomics testing is concerned. Moreover, an overall cost mindset strategy based on the selective genotyping workflow to guide specialized laboratories of interest effectively is provided. We particularly accounted for the resources consumed within the laboratory premises such as cost of reagents for DNA isolation, cost of consumables, cost of personnel, while costs associated with patient recruitment, blood sample collection and maintenance, administration costs in the hospital, and costs of blood sample shipment were not taken into consideration. Our article presents the first-time detailed information on a costing framework for pharmacogenomic testing that could be employed to laboratories involved in routine clinical implementation of pharmacogenomics.

PCV10 A MODEL-Based Cost-Effectiveness Analysis of Pharmacogenomic Panel Testing in Cardiovascular Disease Management: Preemptive, Reactive or NONE?

The field of pharmacogenomics (PGx) studies how inherited genetic variations in individuals affect drug absorption, distribution and metabolism in a patient body. PGx panel testing can potentially help improve efficiency and accuracy in individualizing therapy. However, the cost-effectiveness of PGx panel testing strategies regarding the timing of the tests has not been assessed. This study aims to compare the cost-effectiveness between preemptive PGx testing, reactive PGx testing and usual care (no PGx testing) in cardiovascular disease management. We developed a decision analytic model that composed of a short-term decision tree and life-time Markov model to compare the three testing strategies. The study sample included a hypothetical cohort of 10,000 patients that represents a target US population of age 45 years or older. The testing panel assumed to include tests for the following genes and corresponding drug choices: CYP2C19 (clopidogrel vs. ticagrelor), CYP2C9/VKORC1 (warfarin vs. novel oral anticoagulants), and SLCO1B1 (statins vs. PCSK9). Scenario and probabilistic sensitivity analyses were performed to assess the impact of age, sex, race, risk level, and time frame duration. The study reported incremental cost-effectiveness ratios (ICERs) as the main outcome while costs, quality-adjusted life years (QALYs), incremental costs, and incremental QALYs were also reported for the base-case and sensitivity analyses. The results suggested that preemptive testing was cost-effective compared to usual care (ICER $71,540/QALY) at the willingness-to-pay (WTP) of $100,000/QALY while reactive testing was not (ICER $155,870/QALY). Preemptive testing gained a patient an additional 0.74 QALYs compared to usual care, while reactive testing lead to a 0.12 QALYs increase. The cost-effectiveness was not sensitive to age, sex, race and risk-level, but was sensitive to longer time frame. This study concludes that preemptive PGx panel testing for CVD diseases management was cost-effective and should be implemented in a system wide manner for the target population.

Identification of high-impact gene-drug pairs for pharmacogenetic testing in Alberta, Canada.

To facilitate decision-making and priority-setting related to Alberta's Pharmacogenomics (PGx) testing implementation strategy by identifying gene-drug pairs with the highest potential impact on prescribing practices in Alberta. Annual drug dispensing data for Alberta from 2012 to 2016 for 57 medications with PGx-based prescribing guidelines were obtained, along with population estimates and demographics (age and ethnicity). Frequencies of actionable PGx genotypes by ethnicity were obtained from the Pharmacogenomics Knowledgebase (PharmGKB). Annual dispensing activity for each of the 57 medications was calculated for the full population (all ages) and children/youth (0-19 years). Alberta ethnicity data were cross-referenced with genetic frequency data for each of the main ethnic groups from PharmGKB to estimate the proportion of individuals with actionable genotypes. Actionable genotype proportions and drug dispensing frequencies were collectively used to identify high impact gene-drug pairs. We found (a) half of the drugs with PGx-based prescribing guidelines, namely, analgesics, proton pump inhibitors, psychotropics, and cardiovascular drugs, were dispensed at high frequencies (>1% of the entire population), (b) the dispensing rate for about one-third of these drugs increased over the 5-year study period, (c) between 1.1 and 45% of recipients of these drugs carried actionable genotypes, and (d) the gene-drug pairs with greatest impact in Alberta predominatly included CYP2C19 or CYP2D6. We uncovered specific patterns in drug dispensing and identified important gene-drug pairs that will inform the planning and development of an evidenced-based PGx testing service in Alberta, Canada. Adaptation of our approach may facilitate the process of evidence-based PGx testing implementation in other jurisdictions.

Description of Pharmacogenomic Testing Among Patients Admitted to the Intensive Care Unit After Cardiovascular Surgery.

Pharmacogenomic (PGx) testing has the potential to provide information on specific drug-metabolizing enzymes that may lead to an absence, reduction, or increase in medication effect in patients. There is a paucity of prospective studies examining PGx testing in the intensive care unit (ICU) setting. To (1) obtain a PGx panel in a sample of cardiovascular (CV) surgical patients with a planned ICU stay and identify phenotypes, and (2) identify PGx variants that may inform treatment regimens and may warrant prescribing adjustments. Descriptive, single cohort cross-sectional design. Adult (≥18 years) CV patients with an anticipated postoperative ICU stay were enrolled from a large Midwestern tertiary academic medical center. Eligible patients provided informed consent at the time of their CV clinic appointment; PGx testing was then ordered. Pharmacogenomic testing consisted of the Focused Pharmacogenomics panel which included 10 genes and 55 medications. Of the 272 patients screened, 100 (68% male) patients completed PGx testing (mean age 66.2 ± 9.6 years, mean Acute Physiology, Age and Chronic Health Evaluation III score 76.1 ± standard deviation). Pharmacogenomic results were available in the medical record within a median of 52.4 hours (interquartile range: 33.4-80.3). Pharmacogenomic testing results identified 5 CYP2C19 poor metabolizers, 26 CYP2C19 rapid metabolizers, 5 CYP2C19 ultrarapid metabolizers, 6 CYP2D6 poor metabolizers, 5 CYP2D6 poor to intermediate metabolizers, and 2 CYP2D6 rapid metabolizers identified. Overall, 98% of patients had actionable or potentially actionable PGx results, including 82% for warfarin, 65% for propafenone, 65% for tramadol, 46% for oxycodone, 45% for metoprolol, 33% for clopidogrel, 32% for proton pump inhibitors, 25% for statins, and 12% for haloperidol. A significant portion of patients had identified genetic variants that may warrant changes in medication management during and after CV-ICU stay. It remains to be seen if PGx testing leads to improvements in ICU patient outcomes.

Patient perceptions of pharmacogenomic testing in the community pharmacy setting.

In order to optimize community pharmacist roles and patient outcomes, a better understanding of patient perceptions of pharmacogenomic (PGx) testing may be helpful for successful integration into community pharmacy practice. The objective of this study was to identify patient perceptions related to PGx testing in the community pharmacy setting. Semi-structured, face-to-face interviews were conducted with adults ≥18 years of age to gather their perceptions of PGx testing. Interview participants were taking either an antiplatelet agent or a selective serotonin reuptake inhibitor listed in Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines and were patients at one of two community pharmacies in West Michigan. Interview questions were designed to follow the Theory of Planned Behavior and to take into account existing literature on patient perceptions of PGx. Interviews were recorded, transcribed by a third party transcription service, coded by a team of three researchers to identify themes, and analyzed using nVivo qualitative analysis software. A total of 19 interviews were conducted over a period of 16 days in June 2016. Upon preliminary evaluation, four themes related to patient perceptions of PGx testing were consistently observed across multiple interviews: 1) trust, 2) experience, 3) risk/benefit, and 4) clarity. Semi-structured patient interviews revealed four themes related to PGx testing in the community pharmacy setting. These themes may influence the desire to pursue PGx testing. Future research may seek to identify how community pharmacists can communicate with patients about PGx in the context of these themes to empower patients to make positive health care decisions.

Patient insights on features of an effective pharmacogenomics patient portal.

We built a novel mock pharmacogenomics web portal to deliver pharmacogenomic information and results to patients. Utilizing a patient focus group, we then sought to understand patient insights on desired features of an effective pharmacogenomics patient portal. The mock YourPGx Portal delivered four sample pharmacogenomic results (omeprazole, simvastatin, clopidogrel, and codeine). Patients from our existing institutional, prospective pharmacogenomics implementation study were recruited to pilot the mock portal and then asked to participate in a focus group discussion led by two facilitators. All patients had been previously genotyped, but none had been directly provided access to their own genotyping results and none had previously used the YourPGx portal. The focus group discussion explored nine domains: (1) factors influencing drug response, (2) concerns about drug effects, (3) understanding of genomics and pharmacogenomics, (4) reasons to undergo pharmacogenomic testing, (5) sources of pharmacogenomic information for patient education, (6) attributes of pharmacogenomic sources of information, (7) considerations about privacy and personal pharmacogenomic information, (8) sharing of pharmacogenomic information, and (9) features of an effective patient portal. The median age of patients (n = 10) was 65.5 years old (range 38-72), 70% female, 50% Caucasian/30% Black, and 60% held a bachelor/advanced degree. When asked about resources for seeking pharmacogenomic information, patients preferred consulting their providers first, followed by self-education, then using information provided by university research organizations. A theme emerged regarding attributes of these sources, namely a desire for understandability and trust. Patients said that the effectiveness of a pharmacogenomics patient portal is improved with use of symbolisms/graphics and clear and concise content. Effective use of colors, quantifying information, consistency, and use of layperson's language were additional important facets. Patients communicated the appeal of secured phone/app-enabled access and said that they would desire linking to their electronic medical records to allow sharing of information with different members of their healthcare team. Patients named providers as their primary source of pharmacogenomic information, but a pharmacogenomics patient portal that is carefully constructed to incorporate desired features may be a favorable tool to effectively deliver pharmacogenomic information and results to patients.

Prescription patterns of outpatients and the potential of multiplexed pharmacogenomic testing.

Pre-emptive pharmacogenomic (PGx) testing is potentially an efficient approach to improve drug safety and efficacy but the target population to test is unclear. We aim to describe the prescription pattern of PGx drugs among adult medical outpatients. We estimated the 5-year cumulative incidence (CI) for receiving three groups of PGx drugs using competing risks analysis: (i) all PGx drugs, (ii) PGx drugs with guidelines and (iii) PGx drugs with serious clinical effects. Comparisons of CIs were also done by patient characteristics using Gray's test. The 5-year CIs of receiving any new PGx drug, PGx drug with guidelines and serious clinical effects were 42.6%, 37.3% and 13.7%, respectively. The 5-year CI of receiving any new PGx drug was higher for patients >40 years old (43.6% vs ≤40 years old 36.0%, P < 2.2 × 10-22 ), Malays and Indians (50.3% and 49.8% vs Chinese 31.1%, P < 2.2 × 10-22 ), those who attended one of the following four specialties at the index visit compared to other specialties (infectious diseases [46.2% vs 42.6%, P = 2.9 × 10-4 ], psychiatry [48.3% vs 42.3%, P = 7.4 × 10-13 ], renal [49.8% vs 40.9%, P < 2.2 × 10-22 ], and rheumatology and immunology [54.8% vs 41.7%, P < 2.2 × 10-22 ]) and those prescribed ≥5 drugs at index visit (51.7% vs 0-4 drugs 41.7%, P < 2.2 × 10-22 ). Medical outpatients have a substantial probability of benefiting from pre-emptive PGx testing and this is higher in certain subgroups of patients.

PARC report: a health-systems focus on reimbursement and patient access to pharmacogenomics testing.

Pharmacogenomics test coverage and reimbursement are major obstacles to clinical uptake. Several early adopter programs have been successfully initiated through dedicated investments by federal and institutional research funding. As a result of research endeavors, evidence has grown sufficiently to support development of pharmacogenomics guidelines. However, clinical uptake is still limited. Third-party payer support plays an important role inincreasing adoption, which to date has been limited to reactive single-gene testing. Access to and interest in direct-to-consumer genetic testing are driving demand for increasing healthcare providersand third-party awareness of this burgeoning field. Pharmacogenomics implementation models developed by early adopters promise to expand patient access and options, as testing continues to increase due to growing consumer interest and falling test prices.

PARC report: a perspective on the state of clinical pharmacogenomics testing.

In this Perspective, the authors discuss the state of pharmacogenomics testing addressing a number of advances, challenges and barriers, including legal ramifications, changes to the regulatory landscape, coverage of testing and the implications of direct-to-consumer genetic testing on the provision of care to patients. Patient attitudes toward pharmacogenomics testing and associated costs will play an increasingly important role in test acquisition and subsequent utilization in a clinical setting. Additional key steps needed include: further research trials demonstrating clinical utility and cost-effectiveness of pharmacogenetic testing, evidence review to better integrate genomic information into clinical practice guidelines in target therapeutic areas to help providers identify patients that may benefit from pharmacogenetic testing and engagement with payers to create a path to reimbursement for pharmacogenetic tests that currently have sufficient evidence of clinical utility. Increased adoption of testing by payers and improved reimbursement practices will be needed to overcome barriers, especially as the healthcare landscape continues to shift toward a system of value-based care.

Pharmacogenomics in Psychiatric Disorders

The broad arsenal of psychotropic medications is characterised by significant interindividual variability in clinical response and adverse effects, stringent monitoring requirements, potential drug-drug interactions, difficult long-term adherence and high costs. Pharmacogenomics investigates the correlation between genetic polymorphisms and responsiveness to drugs and could provide a valuable guide to fulfill the promise of personalized therapy in the context of the genomic medicine era, by tailoring treatment based on the patient’s specific genetic markers. The present paper overviews the current advances in the clinical applications of pharmacogenomics to individualized psychotropic therapy. Material and methods. The relevant recent pharmacogenomics literature is selected and analysed in order to illustrate the impact on the clinical outcomes and quality of life in psychiatric patients of the genetic variants in the neurotransmitter receptors (dopamine and serotonin), metabolic pathways of drugs (cytochrome CYP450 2D6 and 2C19) and the human leukocyte antigen system. The paper focuses on some of the major psychotropic drug classes, such as: antipsychotics, antidepressants and mood stabilizers. Validation of statistically significant pharmacogenomics relationships has enabled the development and market approval of some predictive tests which are already integrated into some psychotropic drugs label. Results and discussions. Predictive pharmacogenomics tests have changed the classical approach of prescription “trial-and error” and “one dose fits all patients” towards personalized therapy. In addition, in new therapeutic candidates’ clinical development, pharmacogenomics practically guides the clinical studies design, by substantially reducing the failure rates, costs and exposure risks of non-responders patients to new drugs. Current translation barriers of predictive pharmacogenomic tests from bench to clinical practice are also discussed. Conclusion. The paper emphasizes the current progress and future prospects in the field of pharmacogenomics as a guide to personalized therapy of psychiatric disorders, by: a) pretreatment selection of the right drug, prescribed in its optimized dose, to the right patient, according to one’s specific genetic biomarkers; b) by improved clinical trials design based on genetic stratification of patients’ population into responders versus non-responders, especially in the costly phases III and IV.

Public interest in whole genome sequencing and information needs: an online survey study.

Aim: To survey the general public about whole genome sequencing interest, including pharmacogenomic testing, and to identify information important for sequencing decisions. Patients & methods: An online survey of 901 members of the general public in an eastern Canadian province. Results: Interest in whole genome sequencing, including pharmacogenomic testing, was high with few differences among demographic variables. Issues identified as very important to sequencing decisions included familial implications of testing, whether treatment was available for conditions tested and knowing who could access genomic information. Most respondents would value support when interpreting sequencing results. Conclusion: Findings reveal the kind of information and support users of sequencing services would value and could inform the implementation of sequencing into care in ways that accord with public preferences and needs.