Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings

Sebastian, Agnes; Carroll, June C.; Vanstone, Meredith; Clausen, Marc; Kodida, Rita; Reble, Emma; Mighton, Chloe; Shickh, Salma; Aronson, Melyssa; Eisen, Andrea; Elser, Christine; Lerner‐Ellis, Jordan; Kim, Raymond H.; Bombard, Yvonne

doi:10.1038/s41431-021-00876-z

Cited by 10 publications

(11 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Factor loadings are shown in Table 2. Two items had weak loadings (<0.4), and the remaining items formed the following factors 1 : Distress sub‐scale , comprising items 1–3 (three items), three of the five items from the original MICRA distress sub‐scale 2 ; Positive experiences sub‐scale , comprising items 4 and 5 (two items), two of the four items from the original MICRA positive experiences sub‐scale; and an additional item from the original uncertainty sub‐scale which also loaded on this factor. The magnitude of loading (0.43) on this last item was lower than the other two items' loadings (−0.67 and −0.69) 3 ; Uncertainty sub‐scale , comprising items 6–13 (eight items) broadly corresponding to the original uncertainty sub‐scale, but including two items previously found to load with distress 4 ; Family support sub‐scale , comprising item 16 and 17 (two items), the other two items representing the original positive experiences sub‐scale.…”

Section: Resultsmentioning

confidence: 99%

“…We adapted the MICRA to assess the impact of prolonged waiting for GS results in a cancer population. Factor analysis of the adapted MICRA found four factors: 1 Distress (questions 1–3), 2 Positive experience (questions 4–5), 3 Uncertainty (questions 6–13) and 4 Family support (questions 16 and 17), resulting in a 15‐item measure of distress experienced during prolonged waiting for GS results.…”

Section: Discussionmentioning

confidence: 99%

“…Secondary findings confront both patients and families with risks they had not been seeking to identify nor were prepared to face. 2 The high incidence of findings of uncertain significance, whose meaning may or may not become clearer over time, can further increase uncertainty, and be confusing and worrying for patients. 3,4 Han and colleagues have identified three triggers of uncertainty in health care: indeterminate outcomes, imprecise risk estimates, and complexity in results.…”

Section: Introductionmentioning

confidence: 99%

“…GS for cancer risk may result in information that is (a) relevant to indication for test, (b) relevant to other cancers or diseases (secondary) or (c) of unknown significance. Secondary findings confront both patients and families with risks they had not been seeking to identify nor were prepared to face 2 . The high incidence of findings of uncertain significance, whose meaning may or may not become clearer over time, can further increase uncertainty, and be confusing and worrying for patients 3,4 …”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Validation of the multidimensional impact of Cancer Risk Assessment Questionnaire to assess impact of waiting for genome sequencing results

et al. 2022

View full text Add to dashboard Cite

Objective To determine whether the existing Multidimensional Impact of Cancer Risk Assessment (MICRA) scale, which assesses impact of receiving genetic test results on individuals being assessed for cancer risk, can be successfully adapted to cancer patients experiencing prolonged waiting for results of germline genome sequencing (GS). Methods Patients previously diagnosed with likely hereditary cancer (n = 250) who were waiting for germline GS results completed questionnaires 3 months after baseline. We adapted the MICRA to measure anxiety associated with waiting for results, and assessed factor structure, internal consistency, test–retest reliability and construct validation. Results Factor analysis revealed four factors: distress, positive experience, family support and uncertainty. Internal consistency for each sub‐scale was high with the values of Cronbach's alpha for the distress, positive experiences, family support and uncertainty sub‐scales 0.92, 0.88, 0.92 and 0.87, respectively. Test–retest reliability was poor, with intra‐class correlations of 0.53, 0.13, 0.33 and 0.52 for the four factors, respectively. Construct validation showed large correlations between the MICRA distress and uncertainty sub‐scale scores and the Impact of Events score intrusion (0.42 and 0.62, respectively) and IES avoidant thinking sub‐scales (0.40 and 0.58, respectively) but not the Hospital Anxiety and Depression Scale sub‐scales. Conclusions The adapted MICRA identified test‐related anxiety and uncertainty in a population of cancer patients waiting for germline GS results. Results suggest that the distress and uncertainty sub‐scales of the adapted measure are most useful in this context.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Validation of the multidimensional impact of Cancer Risk Assessment Questionnaire to assess impact of waiting for genome sequencing results

et al. 2022

View full text Add to dashboard Cite

show abstract

“…94 The need for specialists' expertise to craft a follow-up care plan after a genetic diagnosis was further reiterated in a semistructured interview with 15 GPs where they expressed that without proper follow-up actions for GPs to act on, patients may suffer from potential harms that can lead to anxiety and unnecessary investigations. 72 Even though GPs recognised the benefits of clinical genetic testing, many were reluctant and had concerns about the adoption. First, challenges to document family history have contributed to divided opinions on adopting clinical genetic services in general practice.…”

Section: Discussionmentioning

confidence: 99%

General practitioners’ (GPs) experience, attitudes and needs on clinical genetic services: a systematic review

et al. 2022

View full text Add to dashboard Cite

ObjectiveThe proliferation and growing demands of genetic testing are anticipated to revolutionise medical practice. As gatekeepers of healthcare systems, general practitioners (GPs) are expected to play a critical role in the provision of clinical genetic services. This paper aims to review existing literature on GPs’ experience, attitudes and needs towards clinical genetic services.DesignA systematic mixed studies review of papers published between 2010 and 2022.Eligibility criteriaThe inclusion criterion was peer-reviewed articles in English and related to GPs’ experience, views and needs on any genetic testing.Information sourcesThe PubMed, PsycINFO, Cochrane, EMBASE databases were searched using Mesh terms, Boolean and wildcards combinations to identify peer-reviewed articles published from 2010 to 2022. Study quality was assessed using Mixed Methods Appraisal Tool. Only articles that fulfilled the inclusion criteria were selected. A thematic meta-synthesis was conducted on the final sample of selected articles to identify key themes.ResultsA total of 62 articles were included in the review. Uncertainty over GPs’ role in providing genetic services were attributed by the lack of confidence and time constraints and rarity of cases may further exacerbate their reluctance to shoulder an expanded role in clinical genetics. Although educational interventions were found to increasing GPs’ knowledge and confidence to carry out genetic tasks, varied interest on genetic testing and preference for a shared care model with other genetic health professionals have resulted in minimal translation to clinical adoption.ConclusionThis review highlights the need for deeper exploration of GPs’ varied experience and attitudes towards clinical genetic services to better facilitate targeted intervention in the adoption of clinical genetics.

show abstract

A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings

Sam

Reble²,

Kodida³

et al. 2022

Hum Genet

Self Cite

View full text Add to dashboard Cite

Genomic sequencing (GS) can reveal secondary ndings (SFs), ndings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically signi cant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically signi cant primary and SF results. A genomic test report with accompanying patient and provider letters were developed in 3 phases: review of current clinical reporting practices, consulting with genetic and non-genetics experts, and iterative re nement through circulation to key stakeholders. The genomic test report and consultation letters present a myriad of clinically relevant GS results in distinct, tabulated sections, including primary and secondary ndings, with in-depth details of each nding. They provide detailed variant and disease information, personal and familial risk assessments, clinical management details, and additional resources to help support providers and patients with implementing healthcare recommendations related to their GS results. The report and consultation letters represent a comprehensive approach to communicate all clinically signi cant SFs to patients and providers, facilitating clinical management of GS results.

show abstract

Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings

Cited by 10 publications

References 33 publications

Validation of the multidimensional impact of Cancer Risk Assessment Questionnaire to assess impact of waiting for genome sequencing results

Validation of the multidimensional impact of Cancer Risk Assessment Questionnaire to assess impact of waiting for genome sequencing results

General practitioners’ (GPs) experience, attitudes and needs on clinical genetic services: a systematic review

A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings

Contact Info

Product

Resources

About