Genomics in general practice: Generation Genome

Hillman, Sarah; Dale, Jeremy

doi:10.3399/bjgp17x693533

Cited by 6 publications

(7 citation statements)

References 11 publications

(15 reference statements)

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“…'Pharmacogenomics' describes the effect of the genome on drug response. There is acceptance that while the future implementation of prescribing based on the use of genomic data is likely, we will need to consider key issues such as clinical effectiveness and cost-effectiveness (Hillman and Dale 2017;Hayward et al 2017;Walter et al 2014) before there is widespread adoption and clinical confidence in General Practice.…”

Section: Introductionmentioning

confidence: 99%

The implementation of pharmacogenomics into UK general practice: a qualitative study exploring barriers, challenges and opportunities

et al. 2020

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Pharmacogenomics describes interpatient genetic variability in drug responses. Information based on whole genome sequencing will soon open up the field of pharmacogenomics and facilitate the use of genomic information relating to drug metabolism and drug responses. We undertook a qualitative study, aiming to explore the potential barriers, opportunities and challenges facing the implementation of pharmacogenomics into primary care. Semi-structured interviews were undertaken with 18 clinical participants (16 GPs and 2 other clinicians). All interviews were recorded and transcribed verbatim. Using a thematic analysis approach, data items were coded, ordered and themes constructed. Most participants were aged 55-60 years and worked as part-time clinical GPs with other clearly defined roles. The emerging themes covered several areas of concern, including the following: the utility of pharmacogenomics and the value of introducing such testing into primary care; how to educate the primary care workforce and 'mainstream' pharmacogenomics; the ethical, legal and social aspects of pharmacogenomics and its impact on patients; and potential impacts on the healthcare system particularly around economics and informatics. Most participants had concerns about pharmacogenomics and felt that there were a number of barriers and challenges to its implementation into routine primary care. Most striking were their concerns around the cost-effectiveness of using pharmacogenomics in primary care. At the same time most recognised the increasing availability of direct-to-consumer testing, and felt that this would drive the need to understand the ethical and social implications of using genomic information in primary care. This study has raised important issues that need to be considered when planning the implementation of pharmacogenomics into clinical practice. Prior to the implementation of genomic testing into day-today practice in UK primary care, it is important that considerations around education, cost-effectiveness and informatics are addressed, as well as the impact on patients.

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Section: Introductionmentioning

confidence: 99%

The implementation of pharmacogenomics into UK general practice: a qualitative study exploring barriers, challenges and opportunities

et al. 2020

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“…For example, in 2018 the Royal Australian College of General Practitioners released a resource, Genomics in General Practice, aiming to assist GPs in clinical decisionmaking regarding genomics. 15 In the UK, there has been ongoing debate about how to prepare GPs for ‘generation genome’ 9,16 and the Royal College of General Practitioners recently released online educational and training resources on genomics for GPs. 17 Innovative educational programmes and resources aimed at increasing physician knowledge about genomics are also on the rise in the US.…”

Section: Introductionmentioning

confidence: 99%

GP attitudes to and expectations for providing personal genomic risk information to the public: a qualitative study

et al. 2019

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BackgroundAs part of a pilot randomised controlled trial examining the impact of personal melanoma genomic risk information on behavioural and psychosocial outcomes, GPs were sent a booklet containing their patient’s genomic risk of melanoma.AimUsing this booklet as an example of genomic risk information that might be offered on a population-level in the future, this study explored GP attitudes towards communicating genomic risk information and resources needed to support this process.Design & settingSemi-structured interviews were conducted with 22 Australian GPs.MethodThe interviews were recorded and transcribed, and data were analysed thematically.ResultsGPs in this sample believed that communicating genomic risk may become a responsibility within primary care and they recommended a shared decisionmaking approach to guide the testing process. Factors were identified that may influence how and when GPs communicate genomic risk information. GPs view genomics-based risk as one of many disease risk factors and feel that this type of information could be applied in practice in the context of overall risk assessment for diseases for which prevention and early detection strategies are available. They believe it is important to ensure that patients understand their genomic risk and do not experience long-term adverse psychological responses. GPs desire clinical practice guidelines that specify recommendations for genomic risk assessment and patient management, point-of-care resources, and risk prediction tools that include genomic and traditional risk factors.ConclusionThese findings will inform the development of resources for preparing GPs to manage and implement genomic risk information in practice.

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“…In many countries across the world, for Indigenous peoples, people of colour and for those living in areas of high deprivation, access to healthcare is inequitable, and health outcomes poorer when compared with the dominant and wealthier population of that country 6 7. As new molecular technologies are becoming more widely adopted into routine practice, there is emerging evidence that access to, and consequently benefit of, molecular technologies are inequitable 8–14. For example, despite a known familial risk having been established, African-American women are still less likely to be referred for genetic screening for breast cancer—with some known drivers to this inequity being their healthcare practitioners and the wealth (or not) of the area where the clinic is situated 9 11.…”

Section: Introductionmentioning

confidence: 99%

“…In essence, this means for those people who receive a result of variant of unknown significance, there is limited (if no) benefit from ‘personalised medicine’, and as consequence, the potential for driving inequities further is very real. Inequity in delivery and uptake has also been linked to how knowledgeable the healthcare practitioner is about a particular test—with some healthcare practitioners never making referrals for further genetic or genomic testing or screening 8. For Indigenous populations, inequity is compounded because the healthcare service can fail to meet their health needs due to lack of cultural responsiveness 16.…”

Section: Introductionmentioning

confidence: 99%

“… 6 7 As new molecular technologies are becoming more widely adopted into routine practice, there is emerging evidence that access to, and consequently benefit of, molecular technologies are inequitable. 8–14 For example, despite a known familial risk having been established, African-American women are still less likely to be referred for genetic screening for breast cancer—with some known drivers to this inequity being their healthcare practitioners and the wealth (or not) of the area where the clinic is situated. 9 11 African-American women are also more likely than American women of European descent to receive a result of a variant of unknown significance when they have undergone screening for the presence of BRCA1/2 variants associated with breast and ovarian-related cancers.…”

Section: Introductionmentioning

confidence: 99%

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Uncovering social structures and informational prejudices to reduce inequity in delivery and uptake of new molecular technologies

Filoche

Stone

Cram³

et al. 2020

J Med Ethics

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Advances in molecular technologies have the potential to help remedy health inequities through earlier detection and prevention; if, however, their delivery and uptake (and therefore any benefits associated with such testing) are not more carefully considered, there is a very real risk that existing inequities in access and use will be further exacerbated. We argue this risk relates to the way that information and knowledge about the technology is both acquired and shared, or not, between health practitioners and their patients.A healthcare system can be viewed as a complex social network comprising individuals with different worldviews, hierarchies, professional cultures and subcultures and personal beliefs, both for those giving and receiving care. When healthcare practitioners are not perceived as knowledge equals, they would experience informational prejudices, and the result is that knowledge dissemination across and between them would be impeded. The uptake and delivery of a new technology may be inequitable as a result. Patients would also experience informational prejudice when they are viewed as not being able to understand the information that is presented to them, and information may be withheld.Informational prejudices driven by social relations and structures have thus far been underexplored in considering (in)equitable implementation and uptake of new molecular technologies. Every healthcare interaction represents an opportunity for experiencing informational prejudice, and with it the risk of being inappropriately informed for undertaking (or offering) such screening or testing. Making knowledge acquisition and information dissemination, and experiences of informational prejudice, explicit through sociologically framed investigations would extend our understandings of (in)equity, and offer ways to affect network relationships and structures that support equity in delivery and uptake.

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Genomics in general practice: Generation Genome

Cited by 6 publications

References 11 publications

The implementation of pharmacogenomics into UK general practice: a qualitative study exploring barriers, challenges and opportunities

The implementation of pharmacogenomics into UK general practice: a qualitative study exploring barriers, challenges and opportunities

GP attitudes to and expectations for providing personal genomic risk information to the public: a qualitative study

Uncovering social structures and informational prejudices to reduce inequity in delivery and uptake of new molecular technologies

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