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Genomic research: The landscape for nursing
Journal of Advanced Nursing ( IF 3.8 ) Pub Date : 2022-07-27 , DOI: 10.1111/jan.15396
Tootie Bueser 1 , Amanda Skinner 2 , Layla Bolton Saghdaoui 3 , Calvin Moorley 4
Affiliation  

Genomics is the study of the body's genes, their function and their impact on the growth, development and working of the body. When the words ‘research’ and ‘genomics’ are said together to nurses and other allied health professionals, individual thoughts almost always lead to research studies focused on gene structure and function. However, with the current emphasis on personalized nursing and medicine, fundamental science research in genomics is an important area, in this rapidly expanding field.

In the United Kingdom, the 100K Genomes Project has led to a national strategy to embed genomics into everyday clinical care impacting on all professions, with an emphasis on nursing and midwifery (HM Government, 2020). Findings from this project have led to more people with rare diseases receiving a definitive diagnosis, facilitating better management and preventative measures for at-risk family members. Furthermore, we now have a greater understanding of the causes of cancer, paving the way for precision medicine and health care. By harnessing these added insights genomics gives us about patients and families, we have opportunities to improve nursing care, as well as to genomics-related research questions that arise from our practice. It is, therefore, extremely important that nurses engage and lead on areas of research emerging in the genomics field.

Looking ahead, it is important that nurses have the knowledge and skills to embed genomics in everyday practice, for example, being able to identify red flags in a patient's family history that could herald an inherited condition. Nurse education is a starting point for increased genomics literacy and genomics research. Fundamental knowledge and application of genomics for nurses have been reported to be consistently low and interventions to improve this vary widely across countries (Calzone et al., 2018). In the UK, nurses are required to lead the facilitation, patient recruitment and sample collection for genomics studies and this are likely also the case in other countries. Training for such projects is often limited to study specific procedures such as methods for sample collection of genomic material. Unfortunately, this very limited engagement with genomics research makes understanding any future impact on clinical nursing (and broader health) practice an abstract concept. Increasing literacy in this important area is particularly important as nurses need to be able to support our patients as they navigate health areas where genomics is informing routine care, such as the prescription of antiplatelets and chemotherapeutic agents. In this case, a lack of understanding and low genomics literacy will inevitably create a gap in the dissemination and application of genomics in clinical practice. Therefore, an urgent need exists to plan and implement the most effective and evidence-based strategies to enable the nursing workforce to be able to learn about genomics and how this exciting field can shape and transform our practice.

As the genomic nursing practice evolves, we expect research questions to emerge as we have more conversations with patients regarding genomic testing to help with diagnosis or refine treatment. Genomics utility and implications are now moving from specialist clinical genetics clinics to mainstream medicine. Nurses are well placed and have the communication skills to provide holistic care and facilitate autonomous decision making (Barr et al., 2018); however, there will be the added challenge of considering the ethical dilemmas and psychosocial impacts that can impact patients and their families, particularly when faced with a genetic condition or treatment option that is offered based on a genomic test result.

This ‘black box’ of patient communication, which tells us what and how different types of information are exchanged between clinicians and patients, has been studied only in relation to the consenting process for the 100K Genomes Project through the analysis of recorded appointments. Standardized communication skills training was recommended to ensure informed consent, but the wider conversations nurses will undertake when delivering results and genomic healthcare have not been thoroughly examined (Sanderson et al., 2019).

In chronic conditions, psychological impact, quality of life and living well are mainstays for research topics in nursing in this field. Genetic conditions are also chronic and lifelong in nature and as such could also benefit from this focus. Specifically, developing nursing interventions to support patients and families adjust, cope and live well with their diagnoses and the associated implications for lifestyle changes that diagnoses often entail. This goes hand in hand with grief and bereavement issues that may accompany the diagnosis of a genetic disease.

Nurse scientists have been making inroads in genomics laboratories as well as in the application of methodologies developing in genomics. Examples include statistical skills employed in computational genomics, genome-wide association studies and the generation of polygenic risk scores to open up the field of Big Data as a research area for nurses (Henderson & Mudd-Martin, 2018). Indeed, public health genomics is a relatively new discipline that is emerging from combining genomic science and epidemiology to translate genome-based knowledge and technologies into public policy and health services for the benefit of population health (Lee et al., 2017).

The nursing profession will witness far-reaching policies on the application of genomic healthcare and the nursing voice, as advocates for the profession and patients need to be heard. Whilst improving nursing care through research in genomics, it is important to give full attention to the patient outcomes associated with genomic interventions and programmes as well as performance measures to ensure a high standard of genomic healthcare delivery specific to nursing (Kurnat-Thoma et al., 2021).

The nurse's role is important in helping to deliver genomic research aims, specifically supporting equity of access to research studies. Black and ethnic minority patients and those from marginalized communities such as lesbian, gay, bisexual and transgender people are often excluded from research rather than being active participants in research. This omission is particularly relevant in genomics as a lack of participation from these groups will limit the validity and generalisability of findings and hinder precision medicine in addressing the differences in treatment effect based on a patient's ethnicity (Redwood & Gill, 2013). Nurses through inclusive practice can help to increase the diversity of participation in genomic research.

The advent of genomics presents exciting possibilities for nurses as we critically reflect on how genomics affects and impacts practice and how this can improve the lives of patients and their families. Opportunities for research in the field of genomics can assist nurses to answer everyday questions that occur in practice whilst placing nurse scientists and practitioners into a field that they have not always been a part of. To achieve this, and improve genomic literacy, nurses will need genomics embedded in the undergraduate curriculum and post-qualifying programmes. Local, national and international organizations have a golden opportunity to develop and roll out educational, career and research programmes focused on harnessing the nurse's potential in genomics.



中文翻译:

基因组研究:护理前景

基因组学是对人体基因、它们的功能以及它们对身体生长、发育和工作的影响的研究。当“研究”和“基因组学”这两个词一起对护士和其他相关的卫生专业人员说时,个人想法几乎总是会导致专注于基因结构和功能的研究。然而,随着目前对个性化护理和医学的重视,基因组学的基础科学研究是一个重要领域,在这个快速发展的领域中。

在英国,100K 基因组计划促成了一项国家战略,将基因组学嵌入到影响所有专业的日常临床护理中,重点是护理和助产(英国政府,  2020)。该项目的研究结果使更多的罕见病患者得到了明确的诊断,从而为高危家庭成员提供了更好的管理和预防措施。此外,我们现在对癌症的病因有了更深入的了解,为精准医疗和医疗保健铺平了道路。通过利用基因组学为我们提供的有关患者和家庭的这些额外见解,我们有机会改善护理,以及解决我们实践中出现的基因组学相关研究问题。因此,护士参与并领导基因组学领域新兴的研究领域非常重要。

展望未来,护士必须具备将基因组学嵌入日常实践的知识和技能,例如,能够识别患者家族史中可能预示遗传病的危险信号。护士教育是提高基因组学素养和基因组学研究的起点。据报道,护士的基因组学基础知识和应用一直很低,改善这一点的干预措施在各国差异很大(Calzone 等,  2018)。在英国,护士需要领导基因组学研究的便利化、患者招募和样本收集,其他国家可能也是如此。此类项目的培训通常仅限于研究特定程序,例如基因组材料的样本收集方法。不幸的是,对基因组学研究的这种非常有限的参与使得理解任何未来对临床护理(和更广泛的健康)的影响成为一个抽象的概念。提高这一重要领域的识字率尤为重要,因为护士需要能够支持我们的患者,因为他们在基因组学为日常护理提供信息的健康领域中导航,例如抗血小板和化疗药物的处方。在这种情况下,缺乏了解和基因组学素养低将不可避免地在基因组学在临床实践中的传播和应用方面造成差距。因此,迫切需要计划和实施最有效和基于证据的策略,以使护理人员能够了解基因组学以及这个令人兴奋的领域如何塑造和改变我们的实践。

随着基因组护理实践的发展,随着我们与患者就基因组测试进行更多对话以帮助诊断或改进治疗,我们预计会出现研究问题。基因组学的实用性和意义现在正在从专业的临床遗传学诊所转向主流医学。护士位置优越,具备沟通技巧,可以提供整体护理并促进自主决策(Barr 等人,  2018 年);然而,考虑可能影响患者及其家人的伦理困境和心理社会影响将面临额外的挑战,特别是在面临基于基因组测试结果提供的遗传状况或治疗选择时。

这种患者交流的“黑匣子”告诉我们临床医生和患者之间交换什么以及如何交换不同类型的信息,仅通过分析记录的约会就 100K 基因组计划的同意过程进行了研究。建议进行标准化的沟通技巧培训以确保知情同意,但护士在交付结果和基因组医疗保健时将进行的更广泛对话尚未得到彻底检查(Sanderson 等人,  2019 年)。

在慢性病中,心理影响、生活质量和良好生活是该领域护理研究课题的支柱。遗传病在本质上也是慢性和终生的,因此也可以从这一重点中受益。具体来说,开发护理干预措施以支持患者和家庭调整、应对和适应他们的诊断以及诊断通常需要的生活方式改变的相关影响。这与可能伴随遗传疾病诊断的悲伤和丧亲问题密切相关。

护士科学家一直在基因组学实验室以及基因组学开发方法的应用方面取得进展。示例包括在计算基因组学、全基因组关联研究和多基因风险评分的生成中使用的统计技能,以打开大数据领域作为护士的研究领域(Henderson & Mudd-Martin,  2018 年)。事实上,公共卫生基因组学是一门相对较新的学科,它结合了基因组科学和流行病学,将基于基因组的知识和技术转化为公共政策和卫生服务,以造福于人口健康(Lee 等人,  2017 年)。

护理行业将见证关于基因组医疗保健应用和护理声音的影响深远的政策,因为需要听取该行业和患者的倡导者的声音。在通过基因组学研究改善护理的同时,重要的是要充分关注与基因组干预和计划相关的患者结果以及绩效措施,以确保针对护理提供高标准的基因组医疗保健(Kurnat-Thoma 等人。 ,  2021 年)。

护士的角色对于帮助实现基因组研究目标很重要,特别是支持公平获得研究。黑人和少数族裔患者以及来自女同性恋、男同性恋、双性恋和变性人等边缘化社区的患者往往被排除在研究之外,而不是积极参与研究。这种遗漏在基因组学中尤为重要,因为缺乏这些群体的参与将限制研究结果的有效性和普遍性,并阻碍精准医学解决基于患者种族的治疗效果差异(Redwood & Gill,  2013)。护士通过包容性实践可以帮助增加参与基因组研究的多样性。

基因组学的出现为护士提供了令人兴奋的可能性,因为我们批判性地思考基因组学如何影响和影响实践以及这如何改善患者及其家人的生活。基因组学领域的研究机会可以帮助护士回答实践中出现的日常问题,同时将护士科学家和从业者置于他们并不总是参与的领域。为了实现这一目标并提高基因组素养,护士需要将基因组学嵌入本科课程和资格后课程中。地方、国家和国际组织有一个千载难逢的机会来开发和推出专注于利用护士在基因组学方面的潜力的教育、职业和研究计划。

更新日期:2022-07-27
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