Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development

Smith, Hadley Stevens; Morain, Stephanie R.; Robinson, Jill O.; Canfield, Isabel; Malek, Janet; Rubanovich, Caryn Kseniya; Bloss, Cinnamon S.; Ackerman, Sara; Biesecker, Barbara B.; Brothers, Kyle B.; Goytia, Crispin; Horowitz, Carol R.; Knight, Sara J.; Koenig, Barbara A.; Kraft, Stephanie A.; Outram, Simon; Rini, Christine; Shipman, Kelly J.; Waltz, Margaret; Wilfond, Benjamin S.; McGuire, Amy L.

doi:10.1007/s40271-021-00558-4

Cited by 29 publications

(26 citation statements)

References 32 publications

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“…We then combined these 46 newly identified studies with the 31 studies included in the review by Kohler et al 1 Finally, due to the aforementioned challenges in data synthesis, we removed 25 studies conducted internationally, for a final sample of 52 studies ( Figure ). 4 , 5 , 6 , 7 , 8 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 …”

Section: Resultsmentioning

confidence: 99%

Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing

et al. 2023

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ImportanceThe expansion of genetic and genomic testing in health care has led to recognition that these tests provide personal as well as clinical utility to patients and families. However, available systematic reviews on this topic have not reported the demographic backgrounds of participants in studies of personal utility, leaving generalizability unclear.ObjectiveTo determine the demographic characteristics of participants in studies examining the personal utility of genetic and genomic testing in health care.Evidence ReviewFor this systematic review, we utilized and updated the results of a highly cited 2017 systematic review on the personal utility of genetics and genomics, which identified relevant articles published between January 1, 2003, and August 4, 2016. We also used the original methods to update this bibliography with literature published subsequently up to January 1, 2022. Studies were screened for eligibility by 2 independent reviewers. Eligible studies reported empirical data on the perspectives of patients, family members, and/or the general public in the US on the personal utility of any type of health-related genetic or genomic test. We utilized a standardized codebook to extract study and participant characteristics. We summarized demographic characteristics descriptively across all studies and by subgroup based on study and participant characteristics.FindingsWe included 52 studies with 13 251 eligible participants. Sex or gender was the most frequently reported demographic characteristic (48 studies [92.3%]), followed by race and ethnicity (40 studies [76.9%]), education (38 studies [73.1%]), and income (26 studies [50.0%]). Across studies, participants disproportionately were women or female (mean [SD], 70.8% [20.5%]), were White (mean [SD], 76.1% [22.0%]), had a college degree or higher (mean [SD], 64.5% [19.9%]), and reported income above the US median (mean [SD], 67.4% [19.2%]). Examination of subgroups of results by study and participant characteristics evidenced only small shifts in demographic characteristics.Conclusions and RelevanceThis systematic review examined the demographic characteristics of individual participants in studies of the personal utility of health-related genetic and genomic testing in the US. The results suggest that participants in these studies were disproportionately White, college-educated women with above-average income. Understanding the perspectives of more diverse individuals regarding the personal utility of genetic and genomic testing may inform barriers to research recruitment and uptake of clinical testing in currently underrepresented populations.

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Section: Resultsmentioning

confidence: 99%

Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing

et al. 2023

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“…The importance of personal utility in healthcare is gaining traction, as providers continue to move towards person‐centeredness and shared decision‐making. Frameworks for understanding personal utility from patient perspectives can help to guide future research in this area (Smith et al, 2022). Understanding and exploring this concept with clients will assist genetic counselors in better understanding the full spectrum of the individual's valued outcomes and broader implications of the PGS (Kohler et al, 2017).…”

Section: Clinical Practice: Genetic Counseling and Shared Decision‐ma...mentioning

confidence: 99%

Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors

Wand

Kalia

Helm

et al. 2023

Journal of Genetic Counseling

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Polygenic scores (PGS) are primed for use in personalized risk assessments for common, complex conditions and population health screening. Although there is growing evidence supporting the clinical validity of these scores in certain diseases, presently, there is no consensus on best practices for constructing PGS or demonstrated clinical utility in practice. Despite these evidence gaps, individuals can access their PGS information through commercial entities, research programs, and clinical programs. This prompts the immediate need for educational resources for clinicians encountering PGS information in clinical practice. This practice resource is intended to increase genetic counselors' and other healthcare providers' understanding and comfort with PGS used in personalized risk assessments. Drawing on best practices in clinical genomics, we discuss the unique considerations for polygenic‐based (1) testing, (2) clinical genetic counseling, and (3) translation to population health services. This practice resource outlines the emerging uses of PGS, as well as the critical limitations of this technology that need to be addressed before wide‐scale implementation.

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“…Rigorous assessment should extend to patient-reported outcomes, avoiding assumptions on the part of clinicians about how families are affected. Instruments to assess parents’ perceptions of the utility of genomic medicine are being developed and should be considered alongside clinical metrics . Continued efforts to establish methods to appropriately capture the full value of genomic medicine by integrating aspects of personal and clinical utility to avoid either underinvestment or overinvestment are warranted.…”

Section: Toward Standardized Measuresmentioning

confidence: 99%

Genomic Medicine’s Critical Outcome Measure—Utility

Smith

2022

JAMA Netw Open

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Discussions about outcomes of genomic medicine center on the construct of utility. Callahan et al 1 reported findings from a systematic review of the literature on genomic medicine, which they define as genome or exome sequencing and associated care, for critically ill infants. Through a careful dissection of the ways in which genomic medicine utility has been prospectively measured, the review provides insight into how investigators have conceptualized and assessed utility in a specific, policy-relevant clinical context. Callahan and colleagues 1 found that nearly all the prospective studies included in their review reported evidence on utility according to their classification categories, indicating widespread acknowledgment of the importance of the outcome. However, they found considerable heterogeneity in terminology, domains measured, reporting transparency, and approaches to data collection among 21 included studies, indicating a lack of consensus on utility assessment in genomic medicine.

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Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development

Cited by 29 publications

References 32 publications

Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing

Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing

Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors

Genomic Medicine’s Critical Outcome Measure—Utility

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