Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders

Abstract

SummaryPharmacogenetic/pharmacogenomic (PGx) testing is currently available for a wide range of health problems including cardiovascular disease, cancer, diabetes, autoimmune disorders, mental health disorders and infectious diseases. PGx contributes important information to the field of precision medicine by clarifying appropriate treatments for specific disease subtypes. Tangible benefits to patients including improved outcomes and reduced total health care costs have been observed. However, PGx-guided therapy faces many barriers to full integration into clinical practice and acceptance by stakeholders, whether practitioner, patient or payer. Each stakeholder has a unique perspective on the role of PGx testing, although all are similarly challenged with demonstrating or appraising its cost-to-benefit value. Coverage by insurers is a critical step in achieving widespread adoption of PGx testing. The acceleration of adoption of precision medicine in general and for PGx testing in particular will be determined by how quickly robust evidence can be accumulated that shows a return on investment for payers in terms of real dollars, for clinicians in terms of patient clinical responses, and for patients in terms of economic, health and quality of life outcomes. Trends in PGx testing utilization and uptake by payers in real-world practice are discussed; the role of pharmacoeconomics in assessing cost-effectiveness is highlighted using a case study in psychiatric care, and several issues that will affect adoption of PGx testing in the United States (US) over the next few years are reviewed.

Problems, challenges and promises: perspectives on precision medicine

“…However, patients are still largely stratified on a single molecular marker [19], such as the mutation status of a single gene. Single prognostic gene biomarkers that are used clinically include BRAF(V600E) in melanoma [20], MYCN in neuroblastoma [21,22] and the BRCA genes in breast and ovarian cancer [23][24][25].…”

“…Research and prior examples have demonstrated that technologies which are complex are adopted more slowly [23]. To combat this, tests must not only be accurate but they must also be easy to access and use by medical staff [23].…”

Single nucleotide polymorphisms in CIDEC gene are associated with metabolic syndrome components risks and antihypertensive drug efficacy

“…Based on this, pharmacogenetics offers the opportunity for precision medicine to improve drug efficacy and guide cost-effective medical decision [17, 18]. The pathogenesis of MS involves multiple proteins in interlaced molecular pathways, which might serve as targets for the pharmacological action of drugs correcting metabolic disturbance.…”

Impact of SLCO1B1 Pharmacogenetic Testing on Patient and Healthcare Outcomes: A Systematic Review

“…Some healthcare systems in the United States and worldwide are making large investments to implement clinical pharmacogenetics programs into their healthcare delivery systems, but most health care is still delivered in settings without the routine use of pharmacogenetic testing. Innovation generally diffuses slowly throughout medical practice, and for pharmacogenetics, this lag is exacerbated in part by healthcare providers and insurers who remain unconvinced of its value in improving the health care and outcomes of patients . Evidence that pharmacogenetic testing improves patient outcomes is needed to break this impasse …”

“…Innovation generally diffuses slowly throughout medical practice, and for pharmacogenetics, this lag is exacerbated in part by healthcare providers and insurers who remain unconvinced of its value in improving the health care and outcomes of patients . Evidence that pharmacogenetic testing improves patient outcomes is needed to break this impasse …”