Meta-analysis of genomic variants in power and endurance sports to decode the impact of genomics on athletic performance and success.

Association between genomic variants and athletic performance has seen a high degree of controversy, as there is often conflicting data as far as the association of genomic variants with endurance, speed and strength is concerned. Here, findings from a thorough meta-analysis from 4228 articles exploring the association of genomic variants with athletic performance in power and endurance sports are summarized, aiming to confirm or overrule the association of genetic variants with athletic performance of all types. From the 4228 articles, only 107 were eligible for further analysis, including 37 different genes.

Cost-utility analysis of pharmacogenomics-guided tacrolimus treatment in Austrian kidney transplant recipients participating in the U-PGx PREPARE study.

Chronic kidney disease (CKD) is a global health issue. Kidney failure patients may undergo a kidney transplantation (KTX) and prescribed an immunosuppressant medication i.e.

Clinical implementation of preemptive pharmacogenomics in psychiatry.

Background: Pharmacogenomics (PGx) holds promise to revolutionize modern healthcare. Although there are several prospective clinical studies in oncology and cardiology, demonstrating a beneficial effect of PGx-guided treatment in reducing adverse drug reactions, there are very few such studies in psychiatry, none of which spans across all main psychiatric indications, namely schizophrenia, major depressive disorder and bipolar disorder. In this study we aim to investigate the clinical effectiveness of PGx-guided treatment (occurrence of adverse drug reactions, hospitalisations and re-admissions, polypharmacy) and perform a cost analysis of the intervention.

Assessing the utility of measurement methods applied in economic evaluations of pharmacogenomics applications.

An increasing number of economic evaluations are published annually investigating the economic effectiveness of pharmacogenomic (PGx) testing. This work was designed to provide a comprehensive summary of the available utility methods used in cost-effectiveness/cost-utility analysis studies of PGx interventions. A comprehensive review was conducted to identify economic analysis studies using a utility valuation method for PGx testing.

Cost-utility analysis and cross-country comparison of pharmacogenomics-guided treatment in colorectal cancer patients participating in the U-PGx PREPARE study.

Objectives: A cost-utility analysis was conducted to evaluate pharmacogenomic (PGx)-guided treatment compared to the standard-of-care intervention among patients diagnosed with colorectal cancer (CRC) in Italy.

Methods: Data derived from a prospective, open-label, block randomized clinical trial, as a part of the largest PGx study worldwide (355 patients in both arms) were used. Mortality was used as the primary health outcome to estimate life years (LYs) gained in treatment arms within a survival analysis context.

Economic evaluation of pharmacogenomic-guided antiplatelet treatment in Spanish patients suffering from acute coronary syndrome participating in the U-PGx PREPARE study.

Background: Cardiovascular diseases and especially Acute Coronary Syndrome (ACS) constitute a major health issue impacting millions of patients worldwide. Being a leading cause of death and hospital admissions in many European countries including Spain, it accounts for enormous amounts of healthcare expenditures for its management. Clopidogrel is one of the oldest antiplatelet medications used as standard of care in ACS.

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.

Background: The benefit of pharmacogenetic testing before starting drug therapy has been well documented for several single gene-drug combinations. However, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel has not been rigorously assessed.

Methods: We conducted an open-label, multicentre, controlled, cluster-randomised, crossover implementation study of a 12-gene pharmacogenetic panel in 18 hospitals, nine community health centres, and 28 community pharmacies in seven European countries (Austria, Greece, Italy, the Netherlands, Slovenia, Spain, and the UK).

Development of an optimized and generic cost-utility model for analyzing genome-guided treatment data.

Economic evaluation is an integral component of informed public health decision-making in personalized medicine. However, performing economic evaluation assessments often requires specialized knowledge, expertise, and significant resources. To this end, developing generic models can significantly assist towards providing the necessary evidence for the cost-effectiveness of genome-guided therapeutic interventions, compared to the traditional drug treatment modalities.

Horizon Scanning: Teaching Genomics and Personalized Medicine in the Digital Age.

Digital transformation is currently impacting not only health care but also education curricula for medicine and life sciences. The COVID-19 pandemic has accelerated the deployment of digital technologies such as the Internet of Things and artificial intelligence in diverse fields of biomedicine. Genomics and related fields of inquiry such as pharmacogenomics and personalized medicine have been making important progress over the past decades.

Adoption of Pharmacogenomic Testing: A Marketing Perspective.

Pharmacogenomics is becoming an important part of clinical practice and it is considered one of the basic pillars of personalised medicine. However, the rate of pharmacogenomics adoption is still low in many healthcare systems, especially in low- or middle-income countries. The low level of awareness of healthcare specialists could be a potential reason due to which pharmacogenomics application is still in a premature stage but there are several other barriers that impede the aforementioned process, including the lack of the proper promotion of pharmacogenomic testing among interested stakeholders, such as healthcare professionals and biomedical scientists.

Economic evaluation in psychiatric pharmacogenomics: a systematic review.

Nowadays, many relevant drug-gene associations have been discovered, but pharmacogenomics (PGx)-guided treatment needs to be cost-effective as well as clinically beneficial to be incorporated into standard health care. To address current challenges, this systematic review provides an update regarding previously published studies, which assessed the cost-effectiveness of PGx testing for the prescription of antidepressants and antipsychotics. From a total of 1159 studies initially identified by literature database querying, and after manual assessment and curation of all of them, a mere 18 studies met our inclusion criteria.

Conference report: inaugural Pharmacogenomics Access & Reimbursement Symposium.

The Pharmacogenomics Access & Reimbursement Symposium, a landmark event presented by the Golden Helix Foundation and the Pharmacogenomics Access & Reimbursement Coalition (PARC), was a one-day interactive meeting comprised of plenary keynotes from thought leaders across health care that focused on value-based strategies to improve patient access to personalized medicine. Stakeholders including patients, healthcare providers, industry, government agencies, payer organizations, health systems and health policy organizations convened to define opportunities to improve patient access to personalized medicine through best practices, successful reimbursement models, high-quality economic evaluations, and strategic alignment. Session topics included health technology assessment, health economics, health policy, and value-based payment models and innovation.

Genome-based therapeutic interventions for β-type hemoglobinopathies.

For decades, various strategies have been proposed to solve the enigma of hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in terms of effectiveness and safety. So far, the most prevalent and promising treatment options for patients with β-types hemoglobinopathies, among others, predominantly include drug treatment and gene therapy.

Ethics and equity in rare disease research and healthcare.

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

Inaugural Pharmacogenomics Access and Reimbursement Symposium.

The Pharmacogenomics Access & Reimbursement Symposium, a landmark event presented by the Golden Helix Foundation and the Pharmacogenomics Access & Reimbursement Coalition, was a 1-day interactive meeting comprised of plenary keynotes from thought leaders across healthcare that focused on value-based strategies to improve patient access to personalized medicine. Stakeholders including patients, healthcare providers, industry, government agencies, payer organizations, health systems and health policy organizations convened to define opportunities to improve patient access to personalized medicine through best practices, successful reimbursement models, high quality economic evaluations and strategic alignment. Session topics included health technology assessment, health economics, health policy and value-based payment models and innovation.

Cost-effectiveness analysis of genotyping for HLA-B*15:02 in Indonesian patients with epilepsy using a generic model.

Carbamazepine (CBZ)-induced Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are strongly associated with the HLA-B*15:02 allele. Screening HLA-B*15:02 before CBZ administration might prevent CBZ-induced SJS/TEN by enabling clinicians to prescribe alternative therapy for positive patients. Similar to other Southeastern Asian countries, HLA-B*15:02 is highly prevalent in Indonesia.

Attitudes and Awareness Toward Pharmacogenomics and Personalized Medicine Adoption Among Health Sciences Trainees: Experience from Greece and Lessons for Europe.

The increasing incorporation of genomics in clinical practice underscores the need to improve genomics knowledge and familiarity among future health care providers. To this end, it is important to consider both the "push" and the "pull" factors that shape or determine the transition of new personalized medicine (PM) discoveries to clinical practice. One of the pull factors involves the attitudes, values, and education of the user communities such as patients, physicians, and scientists who are poised to use the PM diagnostics.

Catalyzing clinical implementation of pharmacogenomics and personalized medicine interventions in Africa.

Pharmacogenomics is considered to be the low-hanging fruit in the tree of genomic medicine with numerous examples of its successful implementation in the clinic. In this perspective, we provide details about the potential clinical application of pharmacogenomics in African populations by using relevant drug cases and high-throughput genomics approaches; involving numerous countries and stakeholders; and most importantly exploiting the existing knowledge of respective large-scale initiatives. We emphasize on the necessity of constructing appropriate frameworks for government policies in African countries.

What Do Students in Pharmacy and Medicine Think About Pharmacogenomics and Personalized Medicine Education? Awareness, Attitudes, and Perceptions in Malaysian Health Sciences.

This study reports on the attitudes and perceptions toward pharmacogenomics (PGx) and personalized medicine (PM) education among pharmacy and medical students in Malaysian health sciences. Importantly, the survey was developed through a codesign approach, with field pretesting/design with users before the actual survey, and based on collaboration between institutions in Greece and Malaysia. The study addressed eight key areas of interest to education in health sciences: (1) General awareness about genetics and PGx, (2) Attitude toward genetic testing usefulness, (3) Benefits of direct-to-consumer personal genome testing as a "diagnostic" tool, (4) Concerns (risks) about genetics, (5) Effectiveness of genetic testing in PM, (6) Benefits of PGx on disease management, (7) Benefits of PGx on drug management, and (8) Attitudes toward genetic testing public endorsement.

Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.

In the post-genomic era, genomic medicine interventions as a key component of personalized medicine and tailored-made health care are greatly anticipated following recent scientific and technological advances. Indeed, large-scale sequencing efforts that explore human genomic variation have been initiated in several, mostly developed, countries across the globe, such as the United States, the United Kingdom, and a few others. Here, we highlight the successful implementation of large-scale national genomic initiatives, namely the Genome of Greece (GoGreece) and the DNA do Brasil (DNABr), aiming to emphasize the importance of implementing such initiatives in developing countries.

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.

PARC report: health outcomes and value of personalized medicine interventions: impact on patient care.

The incorporation of personalized medicine interventions into routine healthcare constitutes an opportunity to improve patients' quality of life, as it empowers implementation of innovative, individualized clinical interventions that maximize efficacy and/or minimize the risk of adverse drug reactions. In order to ensure equal access to genomic testing for all patients, the costs associated with these interventions must be reimbursed by payers and insurance bodies. As such, it is of utmost importance to thoroughly evaluate these interventions both in terms of their clinical effectiveness and their economic cost.