Patient and Health Care Provider Needs and Preferences in Understanding Pharmacogenomic and Genomic Testing: A Meta-Data Analysis

Veilleux, Sophie; Bouffard, Maud; Bouliane, Mijanou Bourque

doi:10.1177/1049732319858325

Cited by 16 publications

(14 citation statements)

References 73 publications

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“…In line with research with patients [32,36], a sizeable majority of our public respondents endorsed receiving genetic counseling before undergoing sequencing. Accommodating this patient preference would have significant resource implications for healthcare systems, particularly in light of the well-documented lack of specialized genetic counseling services [37].…”

Section: Discussion/conclusionsupporting

confidence: 70%

“…This might suggest an increased ability to think critically about ethical and clinical utility aspects of genomic information and promote informed decisions, raising questions about equity and informed access to genomic medicine. However, recent reviews of research on public and provider understanding highlight significant comprehension difficulties with genomic concepts and terminology [15,36], and suggest efforts to increase genomic literacy more broadly are needed. Research that creates and tests interventions to support the use of information related to genomic testing could help ensure realistic expectations for sequencing and promote informed sequencing decisions.…”

Section: Discussion/conclusionmentioning

confidence: 99%

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Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care

Etchegary

Pullman

Simmonds

et al. 2021

Public Health Genomics

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Introduction: The growth of global sequencing initiatives and commercial genomic test offerings suggests the public will increasingly be confronted with decisions about sequencing. Understanding public attitudes can assist efforts to integrate sequencing into care and inform the development of public education and outreach strategies. Methods: A 48-item online survey was advertised on Facebook in Eastern Canada and hosted on SurveyMonkey in late 2018. The survey measured public interest in whole genome sequencing and attitudes toward various aspects of sequencing using vignettes, scaled, and open-ended items. Results: While interest in sequencing was high, critical attitudes were observed. In particular, items measuring features of patient control and choice regarding genomic data were strongly endorsed by respondents. Majority wanted to specify upfront how their data could be used, retain the ability to withdraw their sample at a later date, sign a written consent form, and speak to a genetic counselor prior to sequencing. Concerns about privacy and unauthorized access to data were frequently observed. Education level was the sociodemographic variable most often related to attitude statements such that those with higher levels of education generally displayed more critical attitudes. Conclusions: Attitudes identified here could be used to inform the development of implementation strategies for genomic medicine. Findings suggest health systems must address patient concerns about privacy, consent practices, and the strong desire to control what happens to their genomic data through public outreach and education. Specific oversight procedures and policies that are clearly communicated to the public will be required.

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Section: Discussion/conclusionsupporting

confidence: 70%

Section: Discussion/conclusionmentioning

confidence: 99%

Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care

Etchegary

Pullman

Simmonds

et al. 2021

Public Health Genomics

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show abstract

“…As a result, the probability that a healthcare provider will be presented with PGx testing results is expected to increase (Bousman et al, 2019). This situation can be problematic in that many healthcare providers do not feel comfortable or confident using these test results due, in part, to concerns about the validity of the recommendations (Veilleux et al, 2020) or lack of transparency in how the recommendations were derived (Bousman and Eyre, 2020). In these cases, Sequence2Script can serve as a second opinion.…”

Section: Healthcare Providersmentioning

confidence: 99%

Sequence2Script: A Web-Based Tool for Translation of Pharmacogenetic Data Into Evidence-Based Prescribing Recommendations

Bousman

Aitchison

et al. 2021

Front. Pharmacol.

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Pharmacogenomic (PGx) testing has emerged as an effective strategy for informing drug selection and dosing. This has led to an increase in the use of PGx testing in the clinic and has catalyzed the emergence of a burgeoning commercial PGx testing industry. However, not all PGx tests are equivalent in their approach to translating testing results into prescribing recommendations, due to an absence of regulatory standards. As such, those generating and using PGx data require tools for ensuring the prescribing recommendations they are provided align with current peer-reviewed PGx-based prescribing guidelines developed by expert groups or approved product labels. Herein, we present Sequence2Script (sequence2script.com), a simple, free, and transparent web-based tool to assist in the efficient translation of PGx testing results into evidence-based prescribing recommendations. The tool was designed with a wide-range of user groups (e.g., healthcare providers, laboratory staff, researchers) in mind. The tool supports 97 gene-drug pairs with evidence-based prescribing guidelines, allows users to adjust recommendations for concomitant inhibitors and inducers, and generates a clinical report summarizing the patient’s genotype, inferred phenotype, phenoconverted phenotype (if applicable), and corresponding prescribing recommendations. In this paper, we describe each of the tool’s features, provide use case examples, and discuss limitations of and future development plans for the tool. Although we recognize that Sequecnce2Script may not meet the needs of every user, the hope is that this novel tool will facilitate more standardized use of PGx testing results and reduce barriers to implementing these results into practice.

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“…Brief and accessible materials may also be valuable to healthcare providers. A recent meta-data analysis found that many healthcare providers have never ordered a pharmacogenomics test, feel they are not well informed about such testing, and lack confidence to use pharmacogenomic results in their practice (Veilleux et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort

Chan

Lewis

Biesecker

et al. 2021

Journal of Genetic Counseling

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Although genetic counseling is traditionally done through in-person, one-on-one visits, workforce shortages call for efficient result return mechanisms. Studies have shown that telephone and in-person return of cancer genetic results are equivalent for patient outcomes. Few studies have been conducted with other modes, result types or racially diverse participants. This study explored participants' perspectives on receiving pharmacogenomic results by mail. Two experienced moderators facilitated six focus groups with 49 individuals who self-identified primarily as African-American and consented to participate in a genome sequencing cohort study.Participants were given a hypothetical pharmacogenomic result report (positive for c.521T>C in SLCO1B1). An accompanying letter explained that the result was associated with statin intolerance along with a recommendation to share it with one's doctor and immediate relatives. Participants reacted to the idea of receiving this type of result by mail, discussing whether the letter's information was sufficient and what they predicted they would do with the result. Two researchers coded the focus group transcripts and identified themes. Many participants thought that it was appropriate to receive the result through the mail, but some suggested a phone call alerting the recipient to the letter. Others emphasized that although a letter was acceptable for disclosing pharmacogenomic results, it would be insufficient for what they perceived as life-threatening results. Most participants found the content sufficient. Some participants suggested resources about statin intolerance and warning signs be added.Most claimed they would share the result with their doctor, yet few participants offered they would share the result with their relatives. This exploratory study advances the evidence that African-American research participants are receptive to return of certain genetic results by approaches that do not involve direct contact with a genetic counselor and intend to share results with providers.

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Patient and Health Care Provider Needs and Preferences in Understanding Pharmacogenomic and Genomic Testing: A Meta-Data Analysis

Cited by 16 publications

References 73 publications

Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care

Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care

Sequence2Script: A Web-Based Tool for Translation of Pharmacogenetic Data Into Evidence-Based Prescribing Recommendations

Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort

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