Equitable access to genomic medicine-letter series our family’s genomics journey and my perspectives as a parent, a clinician and an academic

One day, out of the blue, our healthy and bubbly 15-year-old daughter presented with multiple seizures. As parents, we followed the advice of the specialists from paediatric neurology, clinical genetics, and metabolic teams, to enrol our daughter into the 100,000 Genomes Project. When we received an appointment on 14th February 2017, I felt optimistic because this journey meant answers. My husband and I hoped that we may potentially find a genetic cause for our daughter’s epilepsy that could be managed with the right medication to treat our vulnerable child.

Our daughter would be embarrassed when she had grand mal seizures and would often wake up confused. She had a hospital admission as a 7 year old with sudden onset of seizures and was commenced on antiepileptic medication. Since then, she has had several invasive investigations and had several episodes of 24 h EEG monitoring. I was proud of our daughter’s resilience; especially after an EEG when the glue would get stuck in her hair and was painful to get rid of. She had reams of EEG paper showing ESES- Electrical Status Epilepticus in Sleep. I pulled out of meetings as a neurology trainee, where my daughter’s findings were discussed. After being seizure free for a while, around the time when there was a plan to wean her off her antiepileptic medication; she started having multiple fits throughout the day, including more episodes during sleep. Often, there were no warnings, so she could not protect herself and often ended up being significantly injured. She narrowly escaped burns while she was cooking, and I still have flashbacks of catching her before she hit her head against the open door of the dishwasher.

I felt helpless as a parent. As a consultant community paediatrician, who worked with vulnerable children with disability and health needs and treated children with epilepsy, I wanted to ensure we did everything possible to keep our child safe. I considered options of taking a career break to support my child. We tried multiple medications with increasing dosages; yet the frequency of these episodes kept increasing. My heart sank when I got calls from the school or noticed missed calls from her twin brother who was accompanying her on the way home from school, on public transport. I knew about the risk of sudden unexpected death in epilepsy, (SUDEP), especially with poorly controlled epilepsy.

Having been through this genomic journey, as a family, and still having no answers, I must highlight the value of transparency during the recruitment process of the 100,000 Genomes Project, particularly regarding the potential for a ‘no answers’ outcome. As a clinician, when arranging genetics investigations, I discuss the possible outcomes and their impact on wider family especially in the case of unexpected results. I also reinforce the value of a needs-based care as opposed to a label-based approach. Although we have no answer to our daughter’s epilepsy we feel, we present hope to many families in our situation.

The genetic explanation for a clinical entity opens up opportunities for clinical care of cancer and rare diseases, enabling early recognition and potential cures, targeted treatments and reduced negative outcomes as well as informing decisions regarding future family planning. Altruistically, we consented for our trio samples to be included in the National Genomics Research Library (NGRL).

I believe in promoting patient voices and our family’s experience motivated me to become a member of the participant panel with Genomics England in 2018. I recognised this as an area of medicine that was likely to make a significant impact and one that needed better engagement from everyone-clinicians, patients and families.

I believe that some aspects of this genomic odyssey could be improved. I share my perspective as I juggle hats as a parent, a clinician, and an educator. As a tutor at the University of Bristol Medical school, and as an educational and clinical supervisor for doctors in training, I feel it is crucial to actively involve the next generation of healthcare workforce in this journey and to incorporate genomic medicine into healthcare curricula.

Through the panel, I became aware about the scrutiny involved in research applications, the principles of information governance, and the efforts of the bioinformatics team. The participant panel comprising of lay members with diverse skill sets; scrutinise, challenge, encourage and inform Genomics England’s work plan.¹

As a parent participant, I understand that some families may not be at the right place to consent for genomic testing and offer samples for the NGRL. They may need to be approached at appropriate times during clinical contact. We must also recognise the need for transparency in the consenting process and need for re -consenting when children reach adulthood or if there is a change in mental capacity. I believe in advocacy for families, for whom services are not accessible as opposed to the families being perceived as ‘hard to reach’. So innovative methods of engagement are vital for ensuring equitable access to genomic medicine. This may involve strategies like information sharing at scheduled home visits by health professionals, for therapeutic input, health checks, when patients may be more relaxed, sometimes surrounded by family, to make informed decisions. Focus groups, advocacy workshops, led by charities-with a healthy mix of experts, scientists and community leaders, lay people with similar health conditions; are great health promotion and genomics recruitment opportunity. I have attended such sessions as a parent and realised that, I was more receptive to ideas from other parents’ journeys. Reliable websites and digital tools-webinars, podcasts are also other methods of dissemination of information.

As a clinician and researcher, I understand the value of early diagnosis, surveillance, preventive and innovative medical care, in improving outcomes for children and families. I am also part of the National Health Service (NHS) workforce, which is sadly stretched and facing significant bottleneck with waiting lists across various services. There is understandably a hesitancy about mainstream genomics, and I know of clinicians who often do not have the capacity to consent for the research arm of Whole Genome Sequencing (WGS), due to time constraints. Additionally, clinicians have expressed reservations about impact of widespread WGS screening such as Newborn screening, and other similar innovative approaches, especially without additional resource. Given the constraints within NHS, there can be a sense of conflict when trying to adhere to the General Medical Council (GMC) principles while balance high quality care with equity.

Therefore, I believe that access to innovative genomic medicine is vital. I envision this as a circle with the service users, patient and families at the centre. Sitting on the Ethics Advisory Committee of Genomics England, I see the circle comprises of clinicians - primary care and specialists, other health care professionals, researchers, scientists, and professionals from the voluntary sector, and industry. This interactive collaboration is crucial to ensure that there is better understanding of the face behind the genes, making this interface meaningful and productive. It is essential that this engagement is equitable to ensure fair use of taxpayer’s funds, with ethical principles guiding the consideration of common and rare conditions. This approach should begin at the start of clinical journeys, making mainstreaming genomics an important aspect of holistic, patient centred care.

Reinforcing the current NHS infrastructure, with innovative ideas, such as the role of multidisciplinary teams in recruiting families for the consenting arm of genomics, could potentially bridge the gap between Genomics England’s strategy and NHS resources.

Contributors

Kanakalatha Chandramouli-is the sole author of this letter.

Declaration of interests

No competing interests to declare.