RDNZ-led high level roundtable discusses diagnosis and medicine access

On 14 May, Rare Disorders NZ hosted a roundtable at parliament to initiate discussions on the Implementation of the Rare Disorders Strategy in an effort to get work underway, due to an absence of any government action.

In attendance were executives from the Ministry of Health, Health NZ, Pharmac, specialists, industry, parliamentarians and consumer representatives.

The two focus areas of the day’s discussions were on diagnosis and access to rare disorder medicines.

The session on improving early and accurate diagnosis began with a presentation from a Health New Zealand | Te Whatu Ora genetic pathologist talking about introducing genomic healthcare in New Zealand.

The following discussion among attendees included the call for New Zealand to invest in the capability to carry out all genetic testing in country and to broaden access and opportunities for whole genome sequencing, preconception screening and newborn metabolic screening. Points were raised about ethical considerations and the importance for people to have a diagnosis so that they can make important life decisions for themselves and their whānau.

From the medicines discussion the message was clear that enough reports have been produced and enough meetings have been held discussing the need to improve access to rare disorder medicines, now we just need action. Lack of funding remains one of the biggest issues alongside the need for a separate assessment pathway for rare disorder medicines, and there were important points raised about how savings in the wider health system from funding a rare disorder medicine should be directed back to Pharmac’s medicines budget.

Following the morning discussions, both the Minister of Health Hon. Simeon Brown and Associate Minister of Health (Pharmac) Hon. David Seymour joined the roundtable and heard presentations from two consumers, an industry representative and a specialist.

“We are ready and willing and able and smart, and we understand and we want to help. What we need now is a clear plan. What we need now is timelines and accountability and focus on equity. There is a lack of equity around medicines for rare disorders.”

Lisa Burns, CE. Cystic Fibrosis NZ

Referring to the Rare Disorders Strategy, the Minister of Health said, “I think it has a huge amount of opportunity and it is now about focusing on delivery. I will be making that clear to Health New Zealand.”

Overall there was general consensus among officials, specialists, industry and consumers during the discussions that New Zealand needs to do better for people living with rare disorders.

We will be following up with officials and Ministers to progress action on the discussions.