Development of the Knowledge of Genome Sequencing (KOGS) questionnaire
Introduction
Whole-genome sequencing is gradually being incorporated widely into research and clinical care. For whole-genome sequencing to be integrated effectively and safely it is important that individuals make informed choices before consenting. For informed decision-making there are several patient-reported factors [1], of which knowledge is a central component [2]. It is important that measures of knowledge about whole-genome sequencing are available so that healthcare providers can evaluate whether patients are making informed choices about having whole-genome sequencing done. Such measures would also be useful in many other contexts, including evaluation of the effectiveness of interventions designed to improve informed decision-making among patients and research participants, assessment of non-genetics healthcare providers’ understanding of whole-genome sequencing and to track public understanding over time. As genomics is introduced into mainstream clinical practice it will be increasingly important to track knowledge in all these contexts.
One current measure of knowledge of whole-genome sequencing was developed by investigators in the US and administered to 311 patients participating in the ClinSeq project [3]. This 11-item knowledge measure has been used in several studies with patients and research participants since its development [4]. However, a different factor structure and low scale-reliability was found for the scale when it was administered to 862 online survey respondents, raising questions about the measure’s validity and reliability in different populations and methods of administration [5]. Recently one additional measure of genomic sequencing knowledge has been developed: the University of North Carolina Genomic Knowledge Scale (UNC-GKS) [6], but 19 of the 25 items in this measure assess general genetics concepts (e.g. how genes are inherited in families) that have been included in many previous measures of genetics knowledge [[7], [8], [9]]. The other six items relate to exome sequencing rather than whole-genome sequencing, and so do not assess respondents’ understanding of what a ‘genome’ is (the complete set of DNA, as against the 1% that comprises the exome), or specifically what whole-genome sequencing is (e.g. that it looks at almost all, rather than only a small subset, of a person’s DNA). Thus there remains a need for a valid, reliable measure of knowledge specifically of whole-genome sequencing that can be used with individuals in a range of settings.
As part of a study (NIHR PG-PB-1014-350160) to measure and examine informed choice among patients being offered whole-genome sequencing via the 100,000 Genomes Project [10], we are developing a new measure of informed choice for individuals making decisions about whole-genome sequencing in the context of rare disease diagnosis. During development of the informed choice measure, it became apparent that the majority of the items (questions) being developed were ‘context-specific,’ i.e. were relevant primarily to the specific context of whole-genome sequencing for the purposes of diagnosing a rare disease. A subset of the items, however, was ‘context-neutral’, i.e. the items could be administered to patients or other stakeholders (e.g. health care providers, students, general public) regardless of the clinical or other context. We therefore expanded our work with patients to develop a new measure of whole-genome sequencing knowledge that could be administered to a range of stakeholders including public, students, and health professionals as well as patients, their relatives and research participants.
Section snippets
Selection of knowledge domains
In order to identify the domains to include in the knowledge measure overall, and the specific sub-domains (concepts) to cover we reviewed selected professional guidelines and recommendations, patient information materials, and an existing measure [3]. For the professional guidelines and recommendations we drew on a 2013 systematic review of papers on genomic sequencing informed consent recommendations by either experts or societies, the latter of which included international guidelines such as
Sample characteristics
Of 267 individuals invited to complete the KOGS at T1, a total of 24 participants had incomplete data and were excluded, leaving a final sample size of 243 for the main psychometric and T1 analyses. This comprised 189 students/staff, and 54 patients who completed the survey after they had given informed consent to take part in the 100,000 Genomes Project.
Of the 189 students/trainees, 131 had complete data for the pre- vs post-lecture (T1 vs T2) comparison analyses.
Psychometrics
Psychometric analyses were
Discussion
We have developed a robust 9-item Knowledge of Genome Sequencing (KOGS) questionnaire using a rigorous psychometric measure development approach. This is very timely as there are several large genomic studies involving patients and the public ongoing in the UK [29,30], the USA [31,32] and elsewhere [33] and patient-reported measures regarding whole-genome sequencing are urgently needed [1]. Our knowledge measure is an advance on previous measures because it includes both true and false
Acknowledgements
The work presented in this manuscript represents independent research funded by the National Institute for Health Research (NIHR) under the Research for Patient Benefit funding stream (PB-PG-1014-35016: A study to define patient priorities and preferences when consenting to whole genome sequencing to ensure informed choice). All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street
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Cited by (11)
Family communication and results disclosure after germline sequencing: A mixed methods study
2023, Patient Education and CounselingValidation of the Knowledge of Genome Sequencing (KOGS) scale in cancer patients
2022, Patient Education and CounselingCitation Excerpt :One context for which the KOGS may be very useful is cancer, where GS is just starting to be introduced into routine care. However, the patient subsample in the original validation study for the KOGS [12] was small (n = 54), comprising people with varied rare diseases; the number of participants with cancer was not specified. Furthermore, validity testing was limited to sensitivity testing before and after attendance at a lecture on genomics.
Cancer patient knowledge about and behavioral intentions after germline genome sequencing
2022, Patient Education and CounselingCitation Excerpt :It is also possible that our study-developed knowledge scale was insufficiently sensitive to identify key issues of importance to cancer patients undertaking GS. In the time since the current study design in 2016, additional validated knowledge measures have been developed including the University of North Carolina Genomic Knowledge Scale (UNC-GKS) [43] and Knowledge of Genome Sequencing (KOGS) scale [44]. These scales examine knowledge in the domains of genes, sequencing and heritability.
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study
2022, Genetics in MedicineCitation Excerpt :We then conducted an iterative process whereby we reduced the items down to a final set of 28 covering the 8 knowledge domains described earlier. In addition to the new context-specific knowledge items, we administered the previously published 9-item Knowledge of Genome Sequencing (KOGS) questionnaire.22 A conceptual framework illustrating the context-specific understanding and attitude domains can be seen in Supplemental Figure 1.
“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child's genomic test results
2021, Human Genetics and Genomics AdvancesCitation Excerpt :Others have focused on genomic health literacy, defined inclusively as “the capacity to obtain, process, understand, and use genomic information for health-related decision-making,” aiming to leverage genomic knowledge as a pathway to health promotion.4–6 Typically, however, studies of patient understanding in genetics focus more narrowly on knowledge of general genetic concepts,7,8 including genes and heredity,9–11 genomics,8,12,13 and genetic specialties such as cancer genetics.14,15 While it is broadly accepted that knowledge is connected to understanding, there is little consensus about other elements that constitute the larger construct of patient understanding, including important distinctions between perceived understanding, accurate interpretation, and meaning-making of results.16–19
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial
2020, Genetics in MedicineCitation Excerpt :Indeed, international patient DA evaluation standards and systematic reviews indicate that knowledge is frequently used as the primary outcome in the evaluation of decision aids20 and of genetics digital tools specifically.8 However, there were no validated genomics knowledge scales at the time of the study, and none that provided sufficient psychometric data.34 This significantly hinders comprehensive evaluation of decision aids in genomics, and represents an important area for future research.