Mainstreaming Genomics: Re-contacting patients in a dynamic healthcare environment

The potential for genomics to contribute to clinical care has long been recognised, accompanied by optimistic scenarios for clinical use of a patient's genetic information. New findings of clinical significance are already becoming available: for example, new information about the significance of particular genetic profiles for heart disease has recently entered NHS practice with implications for understanding individual risk of developing this disease. The knowledge base regarding genomics and health is expanding, and decreasing logistical complexities and costs of assessing genomic variation are contributing to drives to incorporate genomic findings into various areas of clinical care. A recent review of implementation projects in the US found that 'follow-up of genotyped patients', 'outreach to at-risk family members' and 'consent' were among chief challenges faced in implementation (Manolio et al, 2013). These are challenges this proposed project seeks to address, in a framework that addresses clinical implementation processes more broadly.

There are a number of obstacles preventing the transfer of this new technology and understanding to patients. A key issue is that of professional responsibility: is there a moral and professional obligation for healthcare providers to re-contact former patients and families when new developments of clinical significance become available? What are professional and patient expectations concerning by whom, how, and under what circumstances patients should be re-contacted in light of new genetic information? As genetic medicine continues to be incorporated into mainstream medicine, that is, as genetic tests are increasingly ordered by medical specialities other than clinical genetics such as oncology, cardiology and paediatrics, the phenomenon of re-contacting is becoming both more likely and more complex. Different healthcare professionals may be responsible for communicating genetic test results to patients and families and to re-contact them when information becomes available such as improved diagnosis or therapies. Important psychosocial aspects are involved in re-contacting; new genetic information can have significant and complex repercussions on patients' lives in relation to reproductive decisions, lifestyle choices, employment and wellbeing. Re-contacting can potentially cause anxiety, concerns over health and the future, and may be viewed as an intrusion of patients' and families' privacy.

Research exploring re-contacting is limited, even while it is recognised as being of increasing importance in healthcare. This project will examine re-contacting in current clinical practice in the NHS; legal contexts and relevant guidelines; ethical issues; and expectations of patients and healthcare professionals. We are aware of no empirical work that is this comprehensive, that has addressed these specific aspects, nor that has employed a framework of potentially conflicting professional cultures and expectations in this context.

There is limited empirical knowledge and evidence about professionals' and patients' perspectives on re-contacting and there is an urgent need for more research on the capacity of the healthcare system to record and respond to patient preferences for re-contacting in an effective, equitable, ethically sound, and acceptable way. The outcomes of this project will extend our understanding of the implications of rapid innovation in genetic information for patients and families. It will also provide evidence-based recommendations regarding communication between healthcare professionals and patients, potentially leading to the development of an informed ethical and professional framework regarding re-contacting.
The project team has significant relevant expertise, including clinical paediatric, cancer and cardiac genetics and knowledge of how these specialties are incorporating genetic information; and in sociology of medicine, technology and genetics.

Service Users (including user communities such as patient support and advocacy organizations): Incorporating patients' perspectives in order to improve healthcare provision is a core priority of the current UK government. This project will contribute to our understanding of the implications that the rapid innovation in genomic technologies and the mainstreaming of genomics have for patients and families, thus contributing to the improvement of healthcare provision. Demand for healthcare systems to meet patients' expectations is very high; patients are increasingly encouraged to express their views and evaluate services received in order to improve the quality of care. Service users will be involved in the design and implementation of the project in order to increase the applicability and utility of the findings of this study and will be informed of findings through use involvement workshops.

Healthcare system: The research has a significant potential impact on health systems and practice. It will investigate patients' and professionals' views on re-contacting and will provide evidence-based recommendations regarding communication between healthcare professionals (HCPs) and patients, potentially leading to the development of an informed ethical and professional framework regarding re-contacting. Moreover, the project will provide theoretical and empirical evidence on issues of topical clinical relevance regarding the structure of healthcare services and patient-provider relations, contributing to more effective and equitable implementation of genomics in clinical practice and healthcare.
Biomedical infrastructures: The project will provide timely information for biomedical infrastructures and professional resource organisations which develop information management (e.g. patient records) for the healthcare systems (e.g. National Genetic Reference Laboratory) given the current 'information revolution' in the NHS which may result in patients gaining direct access to their medical records (Equity and excellence: Liberating the NHS 2010).

Policy-makers: This research will be of benefit to UK, European and other regulatory communities in developing an informed ethical and professional framework and guidelines on recontacting if appropriate, for health care professionals.
We will organise two workshops aimed at health care professionals and policy makers. One will be hosted by the GenEthics Club (in London) as a 'launch' event for dissemination of findings and consultation on draft guidelines (Co-Is Lucassen and Clarke are co-founders and directors of the Club and have 'launched' comparable policy outcomes. A second will be organised with the Clinical Genetics Society (CGS), a constituent body of the British Society of Human Genetics (Co-I Turnpenny is President of the CGS). At each event we will draw on our contacts across the health system to invite genetics service providers, GPs, policy makers, members of the DoH's Human Genetics Strategy Group, representatives from health specialties, and the Health Minister to discuss the ethical, legal, financial and organisational issues of re-contacting and mainstreaming genetic medicine. The workshops will provide Continuing Professional Development (CPD) credit for healthcare professionals (the GenEthics club meeting already provide CPD) and will allow further professional engagement with the findings and outcomes of the project by healthcare professionals, policy makers and other stakeholders.

UK and global health: Through a rigorous understanding of patients and professionals' views on re-contacting, combined with an investigation of the capacity of the NHS to incorporate these views (personnel, IT patient registry systems), the research will produce evidence to inform the development of a professional framework on re-contacting with significant potential impact on organisational (cost and logistical) issues in the healthcare system in the UK and possibly other countries.