For more information, please contact:

Dr Susan Kelly
University of Exeter
Byrne House, St German's Road
Exeter, Devon EX4 4PJ
Tel: +44 1392 725139
Email: s.e.kelly@exeter.ac.uk
Webpage: http://ex.ac.uk/mgc




Mainstreaming Genomics:
Recontacting patients in a dynamic healthcare
environment
Introduction
Genetic and genomic testing is becoming increasingly relevant to medical specialties other than
clinical genetics, including cardiology, paediatrics, and oncology. A considerable set of professional
norms have developed within genetic services regarding handling genetic information, as such
knowledge is understood to raise familial, future disease risk and uncertainty concerns. Yet even
within clinical genetics services, some issues remain unresolved, and these are expected to
become more prominent as genetic testing is mainstreamed in healthcare.

The issue of recontacting arises in relation to the development or improvement of diagnostic
techniques, prognostic information, the availability of new or more refined genetic tests, or when
new therapies are developed. Further, many genetic tests produce uncertain information which may
become interpretable in the future as evidence is gathered. Recontacting practices have evolved in
the context of clinical genetic services. However, the picture is becoming ever more complex as genetic
tests are increasingly ordered by medical specialties other than clinical genetics, potentially leading to
differences of professional norms and practices, as well as uncertainty regarding evolving, overlapping lines of responsibility.

The Project
An ESRC/MRC funded three year project led by Dr Susan Kelly (SPA and Egenis) will examine recontacting 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 project will be 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. Project partners are Cardiff University, the University of Southampton,
University College London and the Royal Devon and Exeter Hospital.

Research Questions
Is there a professional duty to recontact patients for whom healthcare providers hold information deriving from genetic or genomic tests?
What are professional and patient expectations concerning by whom, how and under what circumstances patients should be recontacted
in light of new genetic information?

Project Flowchart


It has long been promised that genetics will have a significant impact on
health and healthcare. This study will contribute to our understanding of
implications of rapid innovation in genomics for patients, families and
healthcare professionals. 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 recontacting.
In addition to academic outputs (conferences, journal articles), we will
present our findings and recommendations at user-orientated meetings (the
GenEthics Club and the Clinical Genetics Society) at the end of the project.

Current clinical
practice in the NHS


Legal contexts &
relevant guidelines

Expectations of
patients and HCPs
Ethical &
Sociological issues
Survey of clinical genetic
services in the UK
Literature review
User Involvement workshops
Interviews with HCPs
Interviews with patients
Patient questionnaire
Policy & guideline
documents
Vignettes of recontacting
scenarios
Team & advisory board
workshops
Publications
academic journals

Presentation of
outputs at
conferences


Stakeholders
workshops

Outcomes
Image from: Mercy Health. Doctors and residents working with patients at the JFK clinic in St. Louis. Satish
Chandraprakasam, MD
Image from: ref54/Star patient