Undiagnosed genetic conditions and the impact of genome sequencing (2016)

Genome sequencing continues to become quicker and cheaper with every passing week. This means that for the first time in the 25 years since work began to sequence the first human genome, receiving a diagnosis through sequencing is a reality for families and the NHS must take advantage of the clinical benefits that will arise in parallel. This report explores the experience of families who have received a diagnosis via genome sequencing.

The report makes recommendations in a number of areas:

  • 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 Deciphering Developmental Disorders (DDD) and 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 All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions 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.

On 4 May 2016, the report was launched at an event in parliament, and the then minister in charge of rare diseases, George Freeman MP, received the report.

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