As part of the annual Genomics Conversation Week of Action, the Progress Educational Trust teamed up with Health Education England's Genomics Education Programme for an event entitled 'Talking Genomics with Patients'.
As facilitator Dr Christine Patch reflected, the move within genomics towards diagnostic testing can risk patients, carers and clinicians failing to have the vital conversations that in the past have been a cornerstone of understanding a patient's history. Three panel speakers kindly shared their stories about living with conditions with potential genetic causes within their families.
Two of the speakers were parents of young children with conditions of suspected genetic origin. Claudia Beard is a mum of three boys, the youngest of whom has an as-yet undiagnosed syndrome. Dr Charles Steward has worked in the field of genomics for many years, but before becoming a dad he had not seen genetics from the clinical side: both of his children were born prematurely, and have a number of medical conditions which are believed to have an underlying genetic cause. Sabine Starr, the third member of the panel, has been diagnosed with dystonia, a rare neurological disorder which has affected several generations of her family.
The speakers provided an invaluable insight into why they personally felt that undertaking genetic testing was important. For Claudia and Charles, whose children are affected, receiving a diagnosis and understanding the genetic causes were of primary importance. Sabine's concern was primarily for her young niece, her potential future children, and subsequent generations.
All the panel members spoke highly of the (often interdisciplinary) teams which had supported and cared for them. The importance of knowledge transfer – both between medical professionals, and between patient or carer and professional – came up repeatedly throughout the discussion.
The panel spoke of their own initial lack of understanding about genomics, and the more surprising ignorance among some of the medical professionals they had encountered. The problems they identified included too great a focus on the symptoms rather than the cause, and not respecting the knowledge and expertise that patients and carers accumulate when they live with a condition every day.
That said, while the speakers felt that they might have become experts on their own condition or that of their child, it remains vital to have the guidance and support of fully engaged medical professionals. Panel speakers and audience contributors alike highlighted the importance of having clinical team members who understand that even the smallest clinical details may be hugely significant to a patient.
Another area discussed was the delivery of test results, genomic or otherwise. For health professionals, considering the timing and privacy of difficult conversations about test results is integral to providing sensitive and compassionate care. The best time to discuss a child's diagnosis and prognosis is probably not while that child (or one of their siblings) is undergoing a crisis.
Likewise, audience contributors discussed the frustrations of getting test results by letter, being presented with a single page as the answer to a long search, being unable to speak to anyone to ask questions, and facing a long delay before there is an opportunity to discuss results during a consultation.
Claudia warned that poor communication can lead to patients and carers looking to 'Dr Google' for answers, with adverse consequences. Sabine had found Dr Google useful on occasion, but she too warned that online information often falls short, and of course is not tailored to the individual.
A recurring theme of the event was the need for patients and their carers to be able to ask questions as and when they need to. There was a consensus among the panel, as well as many patients and carers in the audience, that improved access to medical professionals – being able to have important conversations when they really need them, and to maintain a dialogue with their medical team – would very much improve their experience.
Being able to name a condition is not enough – patients and their families and carers want to understand how and why it has developed, and what to do next. Often test results find no identifiable cause behind the diagnosis, and – even when a genetic alteration is identified – limited information about specific rare variants can leave patients in limbo. Indeed, a diagnosis can raise at least as many questions as it answers. Diagnosis is not the end of the journey, but the start of a new one, and it is imperative that patients are supported through the ups and downs yet to come.
As early-career clinical scientists, for us attending this event has highlighted the importance of not talking at patients, but talking with them. We need a team approach that encompasses the patient and their family, as well as the professionals.
PET's next public events will be the afternoon symposium 'Revolutionising Reproduction: The Future of Fertility Treatment' and the evening discussion 'Germline in the Sand: Where Should We Draw the Boundaries for Genome Editing?'.
Both of these events are taking place in Edinburgh on Tuesday 19 March. Find out more here.