“For any parent, finding out their child is unwell is understandably one of the worst things that can happen to them. Words cannot describe how a parent must feel knowing their child has either a genetic or undiagnosed condition and nobody can tell them what is wrong and how to help their child.
Thanks to the genomics revolution, families affected by undiagnosed conditions are now receiving a diagnosis – something that would have been unthinkable only a few years back. The challenge for the NHS will be to meet the needs of these families.
This report, the first of its kind from the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, includes a variety of recommendations to improve the care and support for families affected by the very rarest genetic conditions. I will work with my colleagues in Parliament to ensure these recommendations are taken on board by the relevant stakeholders.”
The meeting also heard from Sarah Oakes, the parent of a child with an undiagnosed genetic condition, and Peter Marks, a Genetic Counsellor.
Sarah Oakes, mum to Joel (6) said:
“Although we are having a bit of a bumpy journey towards diagnosis, we are grateful to be able to participate in these ground breaking projects, and we firmly believe that this research is gathering information that will be life changing in terms of both diagnosis, and care and treatment, for a great many families both now and in the future.”
The APPG aims to increase awareness of rare, genetic and undiagnosed conditions in Parliament and to help ensure that patients and families affected by these conditions have access to appropriate care and support, so this investigation was extremely pertinent to the APPG members. The research, conducted on behalf of the APPG by Rare Disease UK, involved interviews with families of children who have been diagnosed through research projects such as Deciphering Developmental Delay, a research project conducting exome sequencing, and the 100,000 Genomes Project, which is aiming to sequence 100,000 human genomes in the UK.
These families told Rare Disease UK that whilst receiving a diagnosis was extremely important to them, and there were many benefits including for reproductive choice, that they felt they would have liked a better understanding of the possible implications including rarity, isolation and continuing uncertainty. Many families also highlighted that receiving a diagnosis is a life changing event, but not the end of the story and so they would like more support post-diagnosis as well as throughout the process.
The initial findings of the research were discussed at a workshop of the APPG, where members heard from families and professionals. They had a fruitful discussion of the key issues raised and made suggestions for improvements. The interviews with families and the APPG discussions helped formulate the final report.
The report is titled ‘Undiagnosed genetic conditions and the impact of genome sequencing’ and makes a series of recommendations to the Department of Health, NHS England, Clinical Genetic Services and other related organisations. The group of backbench MPs have called for improvements for families in three areas of care:
Managing expectations, results and implications: NHS England and the appropriate medical professionals must consider best practice in the management of expectations when patients receive genome sequencing. Often families do not know what to expect, or what the implications are of receiving a diagnosis from studies such as DDD and the 100,000 Genomes Project or what results will mean – adding further confusion to an already difficult situation.
Support for diagnosed: Much more support needs to be provided to families who have been diagnosed through genomic studies. Receiving this kind of diagnosis can be confusing, unsettling and an extremely emotional time for families of children with previously undiagnosed conditions. The Department of Health, and those leading research in this area, should be responsible for providing adequate and appropriate information for families.
Post diagnosis care: The APPG has called on NHS England, NICE and Genomics England to develop a pathway (or NICE guidance) for healthcare following diagnosis. It is essential that the Department of Health and Public Health England show leadership in the collecting of rare disease data to begin the process of developing prognoses for future families found to have the same gene mutation.