Implementing successful genetics strategy for rare diseases 'will take time'

Vicky McGrath: 'HSE needs to hire a person who knows what they are doing and give them the space to actually get it done.' Picture: Moya Nolan

The next 18 months will tell how effective the new national genetics strategy will be in practice, according to the Rare Diseases Ireland chief executive, who has cautiously welcomed HSE plans.

Vicky McGrath said families often struggle to get a diagnosis for children who have a rare disease, with long waiting lists and limited access to treatment following diagnosis in some cases.

This recently-launched strategy, 'Accelerating Genetic and Genomic Medicine', offers ambitious plans to address this including new hubs of care, boosting access for GPs, and a new perinatal genetics testing service.

Ms McGrath said: “It’s a great step forward and it will be down to the planning and implementation over the next 16-18 months essentially.”

A national office for genetics and genomics will be set up with a to-be-appointed national director leading out on the reforms.

“We need to give the HSE time,” Ms McGrath said. "Hiring a senior person, which they have struggled with in the past, will take time, and that is going to be a critical role to help to shape the planning and implementation.” 

“They need that person to really take on the behemoth that the strategy is and put together a comprehensive plan. This needs somebody who knows what they are doing, and to give them the space to actually get it done,” she added.

Ms McGrath expects this to be an international recruitment process, potentially an Irish expert working abroad who may want to return for this role.

Collaboration

Ms McGrath and other advocates are meeting with the HSE this week to begin a process of collaboration. 

HSE chief clinical officer Dr Colm Henry previously told the Irish Examiner it has up-front funding for genetic counsellors and genetic co-ordinators.

He said: “We are under-resourced. We’ve been reliant on a small number of very committed consultants who are based in Crumlin and we need to expand their workforce too.” 

Ms McGrath welcomed this, saying: "That is very important, that should hopefully go some way towards reducing the waiting lists so that we can deal with people coming onto the lists." 

She also highlighted plans to create extra laboratory capacity, saying more physical buildings as well as extra medical scientists and other staff are needed.

“The other piece is the joined-up data,” she said. “That is not even just the electronic health records, but when you run a genomic sequence on somebody, that is a large amount of data. Where is that going to be stored, how is it going to be stored?"