Recontacting in mainstreaming genetics

Is there a professional duty or responsibility to recontact patients for whom providers hold genetic or genomic information? Do patients and health care providers share responsibility for being aware of new developments relevant to the patient’s genome? Do different health care specialties now ordering genetic tests share understandings regarding managing genetic information, which in clinical genetics services is understood to have familial as well as individual implications?

Genomics and genetic tests are increasingly being ordered by medical specialties outside of clinical genetics, such as cardiology, oncology and paediatrics, potentially requiring negotiation of norms and practices with regard to storing and communicating information to patients and their families. We hypothesize that mainstreaming genomics in healthcare should be understood as a social rather than a merely technological process, and that professional subcultures across specialties will vary with regard to norms and expectations concerning recontacting patients. This project will contribute significantly to understanding normative, practice and ethical concerns across medical specialties regarding the holding and communication of genetic information to patients (and possibly family members) accounting for innovation over time.

This ESRC funded three year project led by Prof Susan Kelly (SPA and Egenis) 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. The study will investigate the hypothesis that mainstreaming genomics in healthcare should be understood as a social as well as a technological process, and that professional subcultures across specialties will vary with regard to norms and expectations concerning recontacting patients. It will evaluate the applicability of a model of technological innovation within health systems developed by sociologist Carl May (Normalisation Process Theory), although it may result in development of an alternative approach. 

The outcomes of this project will extend understanding of the implications of rapid innovation in and mainstreaming of genomics for healthcare professionals, patients and families, as well as contribute more broadly to understanding implementation processes in health care. The data and analysis generated will provide robust evidence to inform the development of an ethical and professional framework on recontacting patients as genomic technologies are increasingly integrated across areas of medical care.

Specific objectives

1. Explore and analyse the ethical and legal issues relating to a potential obligation to recontact

2. Survey current clinical practices regarding recontacting, in light of new genetic information, within and between different medical specialties in the NHS

3. Investigate patients’ expectations of genomic information management and expectations regarding responsibilities and mechanisms for recontacting

4. Investigate healthcare professional perspectives and expectations concerning recontacting in different medical specialties

5. Engage with stakeholders (healthcare professionals, patients groups, and relevant organizations such as BSGM) to integrate the above findings and analyses in the drafting of recontacting professional guidance or to work toward a professional framework as appropriate

The project is undertaken by an interdisciplinary team of international experts in clinical genetics, the sociology of genetics and medicine, ethics and law in clinical genetics practice. The team has expertise in paediatric, cancer and cardiac genetics, knowledge of how these specialties are integrating genomics into practice as well as access to relevant clinical populations for data collection. 

Principal Investigator

Susan Kelly, Associate Professor in Medical Sociology, Sociology, Philosophy and Anthropology University of Exeter

Co-Investigators

Angus Clarke, Clinical Professor, Institute of Cancer & Genetics, Cardiff  University

Anneke Lucassen, Professor of Clinical Genetics, Honorary Consultant in Clinical Genetics, Wessex Clinical Genetics Service, Co-ordinator: Ethics and Law teaching Southampton Faculty of Medicine, University of Southampton

Peter Turnpenny, Consultant Clinical Geneticist Royal Devon & Exeter (RD&E) Hospital, Honorary Associate Professor, University of Exeter Medical School

Legal consultant

Naomi Hawkins, Senior Lecturer, Law School, University of Exeter; Research Associate at HeLEX - Centre for Health Law and Emerging Technologies, University of Oxford

Research Fellows

Daniele Carrieri, University of Exeter

Sandi Dheensa, University of Southampton 

Shane Doheny, Cardiff University

Advisory Board

Andrew Green, Professor of Medical Genetics, National Centre for Medical Genetics, Crumlin Hospital, Dublin

Andrew Hattersley, Professor of Molecular Medicine and Consultant Physician in Diabetes, University of Exeter Medical School

Alastair Kent, Genetic Alliance UK

Frances Flinter, Professor of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust

Gillian Crawford, Registered Genetic Counsellor, University of Southampton

Imran Rafi, Chair of Royal College of General Practitioners Clinical Innovation and Research

Mila Petrova, Department of Public Health and Primary Care, University of Cambridge

Genetic testing seeks co-ordinated approach in re-contacting patients (read press release here)

Should healthcare systems implement routine recontacting services in clinical practice? Some legal and logistical considerations (Harvard Bill of Health; read here)

Publications

Sakaguchi, T., Tokutomi, T., Yoshida, A. et al. Recontact: a survey of current practices and BRCA1/2 testing in Japan. J Hum Genet (2023). https://www.nature.com/articles/s10038-023-01149-x

Carrieri D, Howard HC, Clarke AJ, Stefansdottir V, Cornel MC, van El CG, Forzano F . Reply to Bombard and Mighton (2019) European Journal of Human Genetics Author URL.

Doheney S, Clarke A, Carrieri D, Dheensa S, Hawkins N, Lucassen A, Turnpenny P, Kelly SE. Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact” (2018) New Genetics and Society, 37(3) https://doi.org/10.1080/14636778.2018.1510309

Carrieri D, Howard H, Benjamin C, Clarke A, Dheensa S, Doheny S, Hawkins NL, Halbersma-Konings T, Jackson L, Kayserili H, et al (2018). Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics https://www.nature.com/articles/s41431-018-0285-1

Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, van El CG, Turnpenny PD, Melegh B, Mendes Á, et al. Recontacting or not recontacting? a survey of current practices in clinical genetics centres in Europe (2018) European Journal of Human Genetics, 1-9. https://www.nature.com/articles/s41431-018-0131-5

Carrieri D, Dheensa S, Doheny S, Clarke A, Turnpenny PD, Lucassen AM, Kelly SE. Recontacting in clinical practice: the views and expectations of patients in the United Kingdom (2017) European Journal of Human Genetics http://rdcu.be/uGPz

Dheensa, S., Carrieri, D., Kelly, S., Clarke, A., Doheny, S., Turnpenny, P., Lucassen, A. A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation (2017) European Journal of Medical Genetics http://www.sciencedirect.com/science/article/pii/S1769721217301428 

Dove ES, Kelly SE, Lucivero F, Machirori M, Dheensa S, Prainsack B. Beyond individualism: Is there a place for relational autonomy in clinical practice and research? (2017) Clinical Ethics  http://journals.sagepub.com/eprint/4Txqa7QmAvJZaRTJwauR/full

Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turpenny PD, Lucassen AM, Kelly SE. Recontacting in clinical practice? We need to talk about it (2017) European Journal of Human Genetics http://rdcu.be/pJ0d

Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turpenny PD, Lucassen AM, Kelly SE. Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom. (2017) European Journal of Human Genetics doi: 10.1038/ejhg.2016.188

Carrieri D., Lucassen A.M., Clarke, A.J., Dheensa S., Doheny, S., Turnpenny P.D., Kelly, S.E. Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom. (2016) Genetics in Medicine  doi:10.1038/gim.2015.194 

Conferences and Workshops

Recontacting patients when new genomic findings come to light, Policy Event, Wellcome Collection, London, June 2017. Policy Brief available here

Carrieri D., Dheensa S., Doheny S.,Turnpenny P., Clarke A., Lucassen A., Hawkins N., Kelly S., Recontacting in clinical practice: results from an investigation of the perspectives of patients and healthcare professionals in the United Kingdom, ESHG, Copenhagen, May 2017 

Carrieri D., Dheensa S., Doheny S., Clarke A. Recontacting in Genetics Practice, dissemination event, Institute of Medical Genetics Seminar Room, Institute of Medical Genetics Building, Heath Park, Cardiff, March 2017

Carrieri D., Dheensa S., Doheny S., Lucassen A., Turnpenny P., Clarke A., Kelly S. Recontact in Genetics Practice, dissemination event at Genethics Club and 100K Genethics geCIP meeting, Academy of Medical Sciences, London, February 2017 

Carrieri D., Dheensa S., Doheny, S.,  Lucassen A., Turnpenny P., Clarke A., Kelly S. Recontacting in clinical practice: an investigation of  the perspectives of healthcare professionals in the United Kingdom, ESHG/EMPAG Annual meeting, Barcelona, May, 2016 

Carrieri D., Dheensa S., Doheny S., Lucassen A., Turnpenny P., Clarke A., Kelly S. Is there an ethical and/or legal obligation for healthcare providers to recontact former patients in light of new genetic findings?, ASHG Annual meeting, Baltimore, October 2015

Carrieri D., Dheensa S., Doheny S., Lucassen A., Turnpenny P., Clarke A., Kelly S. Is there an ethical and/or legal obligation for healthcare providers to re-contact former patients in light of new genetic findings?, Inaugural ELSI 2.0 Conference: Translation in Healthcare, HeLEX, Univeristy of Oxford, June 2015

Kelly S. Re-contacting genetic patients: Current practices in the UK, thresholds of certainty and a duty to inform, German Genetic Testing Commission, June 2015  

Carrieri D., Dheensa S., Lucassen A., Turnpenny P., Clarke A., Kelly S. Is there an ethical and/or legal obligation for healthcare providers to recontact former patients in light of new genetic findings?, ESHG Annual meeting Glasgow, June 2015

Carrieri D. Re-contacting patients in a dynamic healthcare environment – Planning User Involvement Workshops, BSA Applied Qualitative Health Research Special Interest Group One Day Symposium - Qualitative Health Research in Practice, May 2015

Kelly S. Re-contacting. South West of Britain Regional Genetics Meeting Exeter, RILD Building, Royal Devon and Exeter Hospital, March 2015 

Kelly S. On social and ethical dimensions of data sharing. What is Data-Intensive Science, ERC project. University of Exeter, December 2014

Carrieri D. Mainstreaming genetics in healthcare: examining a duty to re-contact across the healthcare landscape. Clinical Genetics Department, Royal Devon & Exeter Hospital, Exeter, June 2014 

Kelly S. Mainstreaming genomics: re-contacting patients in a dynamic healthcare environment. The GenEthics Club, London, February 2014

For general enquiries email: recontact-genomics@exeter.ac.uk