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The University of Southampton
Clinical Ethics and Law at SouthamptonResearch

Research project: myKinMatters (app): Developing digital tools to facilitate genome sequencing clinical transition

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Patients diagnosed with a genetic condition often do not fully understand the risk to others; consequently, they do not know who in the family they should tell; and are unsure where to get support with communication.

myKinMatters

Studies suggest that significant numbers of relatives are not alerted to genetic information that is relevant to them. Such non-communication can lead to preventable disease and deaths and is likely to become more common as genetic testing becomes more widespread. Furthermore, the offer of “additional (looked for) findings from whole genome sequencing (WGS), will create a whole new spectrum of information to communicate with relatives. It is likely that at least initially, communication of these sorts of findings will be less good, because there may be no known family history of the condition for which a risk has been found and so family members may have never heard of or considered such risks.  

As genomic medicine is mainstreamed and delivered by a wide range of different clinicians, communication of risks to family members needs careful attention. We do not yet know how, for example, a cardiologist will feel enabled to communicate an oncological risk found as an additional finding for cardiology diagnosis. Online tools to help patients understand their risks and which other members of their family might need to be alerted of their risks are therefore likely to be helpful in this environment.  

Wessex GMC is uniquely positioned to deliver such an innovation: it is located in the first trust in the UK to launch 'My Medical Record' (MyMR) -a web application- offered to all participants in the 100,000 genomes study and we are investigating ways to develop MyMR. We are working with UBhave (Electronics and Computer Science) and the Web Science Institute to develop myKinMatters, a MyMR-embedded app for patients to educate and support users who have received and need to communicate additional findings. myKinMatters will guide users through drawing a pedigree, will provide a secure portal through which users can share information, and will allow health professionals to highlight to patients who in their family would benefit from the information.  

We are also conducting user-experience research with 100,000 genomes project participants via interviews and surveys as well as an ethical analysis of the issues that using digital tools might raise for participants and clinicians. 

We hope that the interactivity of myKinMatters will mitigate some of the current barriers to information sharing in families, provide an efficient and focused view of the content to be communicated, and be more engaging and conducive to identifying and contacting at risk relatives than current practices allow.  

We will explore NHS endorsement and commercialisation possibilities once myKinMatters is finalised.

For further information please contact Dr Lisa Ballard

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