Who should access germline genome sequencing? A mixed methods study of patient views

Best, Megan; Butow, Phyllis; Jacobs, Chris; Savard, Jacqueline; Biesecker, Barbara B.; Ballinger, Mandy L.; Bartley, Nicci; Davies, Grace; Napier, Christine E.; Smit, Amelia K.; Thomas, David M.; Newson, Ainsley J

doi:10.1111/cge.13664

Cited by 3 publications

(3 citation statements)

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“…Participants in our study were interested in receiving personal risk information for conditions that they perceived to be relatively common, particularly cancer, although they were recruited via a cancer research database. Another Australian study conducted among cancer patients and their relatives found high enthusiasm for offering genome sequencing to the general population, prioritising those with a family history of cancer [31]. In a population sample not selected for their personal or family history of cancer, a Canadian study found stronger support for population genomic sequencing for colorectal cancer risk than type 1 diabetes, when conducted alongside existing screening strategies [14].…”

Section: Discussionmentioning

confidence: 99%

Implementation considerations for offering personal genomic risk information to the public: a qualitative study

et al. 2020

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Background: Genomic risk information, based on common genomic susceptibility variants associated with risk of complex diseases such as cancer, may be incorporated into personalised prevention and screening strategies. We aimed to engage with members of the public, who are important stakeholders in this process, to further inform program development and other implementation outcomes such as acceptability and appropriateness. Methods: Semi-structured interviews were undertaken with 30 participants (aged 24-69 years, 50% female) recruited from a pilot trial in which they received personalised genomic risk information for melanoma. We explored participants' views and attitudes towards offering general personal genomic risk information to the broader population. The data were analysed thematically. Results: Two overarching themes relevant to implementation considerations were identified. Firstly, participants' preferences for accepting an offer of genomic risk information were based on family history, disease incidence and the possibility of prevention. Secondly, participants felt that the processes for offering risk information should be based on individual preferences, triaged according to risk and be supported by a health professional trained in genomics. Conclusions: Participants felt that offering personal genomic risk information to the general population to inform prevention and early detection recommendations is acceptable, particularly for common, complex conditions such as cancer. Understanding participants' preferences for receiving genomic risk information will assist with communication strategies and health workforce planning. We anticipate that these findings will contribute to the development of implementation strategies for incorporating genomic risk information into routine clinical practice.

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Section: Discussionmentioning

confidence: 99%

Implementation considerations for offering personal genomic risk information to the public: a qualitative study

et al. 2020

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“…This reduced turnaround time has meant genomic sequencing can be applied to time-critical settings, such as for patients in neonatal and paediatric intensive care units (NICU and PICU). In the NICU, rGT achieves a diagnostic yield between 30% and 52% [ 8 , 9 , 10 ] and is a cost-effective and practical option for testing [ 2 , 5 , 10 , 11 , 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Intensive Care Clinicians’ Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants

Poogoda,

Lynch,

Stark

et al. 2023

Children

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Rapid genomic testing (rGT) enables genomic information to be available in a matter of hours, allowing it to be used in time-critical settings, such as intensive care units. Although rGT has been shown to improve diagnostic rates in a cost-effective manner, it raises ethical questions around a range of different areas, including obtaining consent and clinical decision-making. While some research has examined the perspectives of parents and genetics health professionals, the attitudes of intensive care clinicians remain under-explored. To address this gap, we administered an online survey to English-speaking neonatal/paediatric intensivists in Europe, Australasia and North America. We posed two ethical scenarios: one relating to obtaining consent from the parents and the second assessing decision-making regarding the provision of life-sustaining treatments. Descriptive statistics were used to analyse the data. We received 40 responses from 12 countries. About 50–75% of intensivists felt that explicit parental consent was necessary for rGT. About 68–95% felt that a diagnosis from rGT should affect the provision of life-sustaining care. Results were mediated by intensivists’ level of experience. Our findings show divergent attitudes toward ethical issues generated by rGT among intensivists and suggest the need for guidance regarding ethical decision-making for rGT.

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“…GS is still expensive in the community (~USD4000 on commencement of this study), and it is known that many patients who are interested in testing do not pursue it due to cost [14]. Adult GS is not publicly funded in Australia.…”

Section: Introductionmentioning

confidence: 99%

Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting

et al. 2022

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Germline genome sequencing (GS) holds great promise for cancer prevention by identifying cancer risk and guiding prevention strategies, however research evidence is mixed regarding patient preferences for receiving GS results. The aim of this study was to discern preferences for return of results by cancer patients who have actually undergone GS. We conducted a mixed methods study with a cohort of cancer probands (n = 335) and their genetic relatives (n = 199) undergoing GS in a research setting. Both groups completed surveys when giving consent. A subset of participants (n = 40) completed semi-structured interviews. A significantly higher percentage of probands thought people would like to be informed about genetic conditions for which there is prevention or treatment that can change cancer risk compared to conditions for which there is no prevention or treatment (93% [311] versus 65% [216]; p < 0.001). Similar results were obtained for relatives (91% [180] versus 61% [121]; p < 0.001). Themes identified in the analysis of interviews were: (1) Recognised benefits of GS, (2) Balancing benefits with risks, (3) Uncertain results are perceived as unhelpful and (4) Competing obligations. While utility was an important discriminator in what was seen as valuable for this cohort, there was a variety of responses. In view of varied participant preferences regarding return of results, it is important to ensure patient understanding of test validity and identify individual choices at the time of consent to GS. The nature and value of the information, and a contextual understanding of researcher obligations should guide result return.

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Who should access germline genome sequencing? A mixed methods study of patient views

Abstract: Implementation of any new medical test, including germline genome sequencing (GS) to inform cancer risk, should take place only when a test is effective, ethically justifiable and acceptable to a population. Little empirical evidence exists on patient

Cited by 3 publications

References 29 publications

Implementation considerations for offering personal genomic risk information to the public: a qualitative study

Implementation considerations for offering personal genomic risk information to the public: a qualitative study

Intensive Care Clinicians’ Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants

Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting

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