Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients

Vears, Danya F.; Sénécal, Karine; Borry, Pascal

doi:10.1002/jgc4.1209

Cited by 15 publications

(14 citation statements)

References 28 publications

(43 reference statements)

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“…Research has been geared towards how to organise the ongoing implementation successfully and responsibly and to explore the social utility of these techniques. The focus in the literature is often placed on challenges related to data sharing and privacy, how to achieve ‘true’ informed consent and choice, understandability of the tests and their results and what benefits the results bring to clinical practice and patients (e.g., Bertier et al., 2016; Dove et al., 2019; Horton & Lucassen, 2019; Vears et al., 2019). A more limited amount of work has explored the impact of these new technologies on the experiences and organisation of clinical practice (Arora et al., 2016; Bourret & Cambrosio, 2019; Vears et al., 2019).…”

Section: Introductionmentioning

confidence: 99%

Navigating the uncertainties of next‐generation sequencing in the genetics clinic

Kuiper

Borry

Vears

et al. 2022

Sociology Health & Illness

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This study explores the different manifestations and navigations of uncertainty in the practice of diagnostic next-generation sequencing (NGS) testing. Drawing upon multi-sited fieldwork conducted at a large Centre for Human Genetics in Belgium, we analyse how uncertainty takes shape and is managed in the different steps of the diagnostic process: starting from the testing offer, to the analysis in the lab, the multidisciplinary team meetings (MDTs) and ending with the consultation with the patient. Building on interviews with genetic healthcare professionals and their patients and observations in consultations and MDTs, our empirical work underlines the duality of uncertainty as both burdensome and productive. Building on the existing literature on uncertainty in medicine and NGS, our analysis shows the ontological politics at play in the everyday uncertainty work in this CHG. We show how the, at times, contrasting ways of dealing with uncertainty lead to friction but also result in constructive negotiation and collaboration between actors, making use of multiple types of evidence and expertise. By not only minimising but also sustaining or inviting uncertainty, genetic healthcare professionals are able to advance the practices around NGS in a way that matches their multidisciplinary understandings, considerations and more normative stances.

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Section: Introductionmentioning

confidence: 99%

Navigating the uncertainties of next‐generation sequencing in the genetics clinic

Kuiper

Borry

Vears

et al. 2022

Sociology Health & Illness

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“…Many clinical geneticists find that VUS is quite difficult to explain, and many patients may not be able to grasp the concept. There are concerns regarding the potential negative repercussions of non-clinical geneticists misinterpreting the significance of VUS [ 4 ].…”

Section: Genetic Counseling Status and Trendsmentioning

confidence: 99%

Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea

et al. 2022

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Genetic testing has become increasingly integrated into all areas of healthcare, and complex genetic testing usage continues to grow; thus, the demand for genetic counseling (GC) is likely to increase. However, it is unclear whether the current clinical GC capacity is sufficient for meeting the existing demand. This review describes the current issues, challenges, and future perspectives of GC in Korea based on a professional survey conducted among laboratory physicians. In view of the growing GC demand in the clinical setting, participants expressed a concern about the lack of support from the national healthcare insurance policy and legal requirements, such as certification, for GC practice. The implementation of genetic testing in the overall healthcare system in Korea is in an early phase. Proper implementation can be achieved through education and training of specialists, collaboration among healthcare personnel, proper regulatory oversight, genomic policies, and public awareness. Understanding the current GC capacity, issues, and challenges is a prerequisite for effective strategic planning by healthcare systems considering the expected growth in the demand for clinical genetic services over the next few decades.

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“…This is in line with ethical debates related to how personalized medicine is creating a more patient‐centered approach to health care, 40 highlighting the need for sufficient information and understanding to enable a patient to make an informed decision. Based on interviews with genetic health care professionals, patients’ reactions to receiving a genetic report that includes a positive molecular diagnosis vary, from patients feeling relieved to being frustrated that a diagnosis does not lead to a (change in) treatment 41 . This strongly indicates the necessity of discussing expectations before testing and including this topic in the informed consent.…”

Section: Concluding Recommendations For Laboratories and Cliniciansmentioning

confidence: 99%

Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

Downes

Borry

Ericson³

et al. 2020

Journal of Thrombosis and Haemostasis

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Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients

Cited by 15 publications

References 28 publications

Navigating the uncertainties of next‐generation sequencing in the genetics clinic

Navigating the uncertainties of next‐generation sequencing in the genetics clinic

Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea

Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

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