Revisiting Secondary Information Related to Pharmacogenetic Testing

Haga, Susanne B.

doi:10.3389/fgene.2021.741395

Cited by 8 publications

(10 citation statements)

References 88 publications

(87 reference statements)

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“…Although the test is obtained to evaluate for the presence of a variant that affects the response to a specific medication, at times, the variant is also associated with an unrelated phenotype. 51 The Clinical Pharmacogenetics Implementation Consortium has published numerous guidelines for specific pharmacogenomic test results, and each has a section that describes potential unrelated phenotypes that may be identified. Unfortunately, these guidelines do not address how these incidental results should be reported, and there are no standards for the reporting of incidental findings identified at the time of clinical pharmacogenomic testing.…”

Section: Pharmacogenomic Variantsmentioning

confidence: 99%

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

Landstrom¹,

Chahal²,

Ackerman³

et al. 2023

Circ: Genomic and Precision Medicine

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Rapid advances in genetic technologies have led to expanding use of diagnostic, research, and direct-to-consumer exome and genome sequencing. Incidentally identified variants from this sequencing represent a significant and growing challenge to interpret and translate into clinical care and include variants in genes associated with heritable cardiovascular disease such as cardiac ion channelopathies, cardiomyopathies, thoracic aortic disease, dyslipidemias, and congenital/structural heart disease. These variants need to be properly reported, the risk of associated disease accurately assessed, and clinical management implemented to prevent or lessen the disease so that cardiovascular genomic medicine can become both predictive and preventive. The goal of this American Heart Association consensus statement is to provide guidance to clinicians who are called on to evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation and clinical application of variants. This scientific statement outlines a framework through which clinicians can assess the pathogenicity of an incidental variant, which includes a clinical evaluation of the patient and the patient’s family and re-evaluation of the genetic variant in question. Furthermore, this guidance underscores the importance of a multidisciplinary team to address these challenging clinical evaluations and highlights how clinicians can effectively interface with specialty centers.

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Section: Pharmacogenomic Variantsmentioning

confidence: 99%

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

Landstrom¹,

Chahal²,

Ackerman³

et al. 2023

Circ: Genomic and Precision Medicine

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show abstract

“…The first class is related to the pleiotropic effects of some pharmacogenes. Examples are testing of UGT1A1 to predict irinotecan response, which can reveal carrier status of variants causing Crigler–Najjar syndrome, or tests of VKORC1 variability to guide warfarin dosing, which can return secondary findings regarding the risks of familiar coagulopathies 68 . While the second is a consequence of testing strategies that evaluate not only a given locus of interest, but might evaluate the entire pharmacogenome, exome or genome.…”

Section: Implementation and Precision Medicinementioning

confidence: 99%

“…Examples are testing of UGT1A1 to predict irinotecan response, which can reveal carrier status of variants causing Crigler–Najjar syndrome, or tests of VKORC1 variability to guide warfarin dosing, which can return secondary findings regarding the risks of familiar coagulopathies. 68 While the second is a consequence of testing strategies that evaluate not only a given locus of interest, but might evaluate the entire pharmacogenome, exome or genome. While targeted pharmacogenomic sequencing rarely overlaps with analyses of strong markers of disease risk or prognosis, the likelihood of incidental findings increases if WES or WGS are employed.…”

Section: Implementation and Precision Medicinementioning

confidence: 99%

A paradigm shift in pharmacogenomics: From candidate polymorphisms to comprehensive sequencing

Zhou

Koutsilieri

Eliasson

et al. 2022

Basic Clin Pharma Tox

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Genetic factors have long been recognized as important determinants of interindividual variability in drug efficacy and toxicity. However, despite the increasing number of established gene-drug associations, candidate polymorphisms can only explain a fraction of the genetically encoded functional variability in drug disposition. Advancements in genetic profiling methods now allow to analyse the landscape of human pharmacogenetic variations comprehensively, which opens new opportunities to identify novel factors that could explain the "missing heritability." Here, we provide an updated overview of the landscape of pharmacogenomic variability based on recent analyses of population-scale sequencing projects. We then summarize the current state-of-the-art how the functional consequences of variants with unknown effects can be quantitatively estimated while discussing challenges and peculiarities that are specific to pharmacogenes. In the last sections, we discuss the importance of considering ethnogeographic diversity to provide equitable benefits of pharmacogenomics and summarize current roadblocks for the implementation of sequencing-based guidance of clinical decision-making.Based on the current state of the field, we conclude that testing is likely to gradually shift from the interrogation of selected candidate polymorphisms to comprehensive sequencing, which allows to consider the full spectrum of pharmacogenomic variations for a true personalization of genomic prescribing.

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“…70 Upon receipt of PGx test results, secondary or incidental findings are typically low, but there are examples where some PGx test results may have implications for an individual's health status or disease risk. 71 In addition, PGx testing might reveal information that would be relevant to family members, which raises fundamental questions about how "informed consent" for testing is obtained and how test results should be communicated to patients. This is a major concern as there are no standard guidelines regarding this issue.…”

Section: Ethical and Legal Issuesmentioning

confidence: 99%

“…This is a major concern as there are no standard guidelines regarding this issue. Patient and provider education regarding these issues will both increase knowledge and reduce adverse responses related to secondary findings 71 …”

Section: Hurdlesmentioning

confidence: 99%

Approaches and hurdles of implementing pharmacogenetic testing in the psychiatric clinic

Maruf

Bousman

2022

PCN Reports

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Pharmacogenetic (PGx) testing has emerged as a tool for predicting a person's ability to process and react to drugs. Despite the growing evidence‐base, enthusiasm, and successful efforts to implement PGx testing in psychiatry, a consensus on how best to implement PGx testing into practice has not been established and numerous hurdles to widespread adoption remain to be overcome. In this article, we summarize the most used approaches and commonly encountered hurdles when implementing PGx testing into routine psychiatric care. We also highlight effective strategies that have been used to overcome hurdles. These strategies include the development of user‐friendly clinical workflows for test ordering, use, and communication of results, establishment of test standardization and reimbursement policies, and development of tailored curriculums for educating health‐care providers and the public. Although knowledge and awareness of these approaches and strategies to overcome hurdles alone may not be sufficient for successful implementation, they are necessary to ensure the effective spread, scale, and sustainability of PGx testing in psychiatry and other areas of medicine.

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Revisiting Secondary Information Related to Pharmacogenetic Testing

Cited by 8 publications

References 88 publications

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association

A paradigm shift in pharmacogenomics: From candidate polymorphisms to comprehensive sequencing

Approaches and hurdles of implementing pharmacogenetic testing in the psychiatric clinic

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