HIQA commences assessment of new addition to the National Newborn Bloodspot Screening Programme
The Health Information and Quality Authority (HIQA) has today published a protocol for a health technology assessment (HTA) of the addition of congenital adrenal hyperplasia (CAH) to the National Newborn Bloodspot Screening Programme. This HTA was requested by the National Screening Advisory Committee (NSAC) and will inform NSAC’s recommendation on whether the National Newborn Bloodspot Screening Programme should be expanded to include CAH.
CAH is a group of inherited autosomal recessive conditions affecting the adrenal glands located on top of each kidney, which are responsible for producing hormones including cortisol, aldosterone, and androgens. The condition ranges from mild to severe forms. As existing newborn screening methods are only designed to detect more severe forms of the condition (that is, classic CAH), HIQA’s assessment will focus on this form.
In the most severe form of classic CAH, the body cannot produce enough aldosterone and cortisol, the hormones that regulate electrolyte balance, maintain blood pressure and support the body’s stress response. If not identified and treated urgently, a severe loss of salt and water balance can lead to a life-threatening adrenal crisis in early life. The signs of CAH differ by sex, with females typically identified earlier because there may be physical signs of the condition which are not apparent in males.
This HTA will look at the overall benefit-harm balance of including CAH as part of the National Newborn Bloodspot Screening Programme. The protocol published today outlines the methodological approach that HIQA’s evaluation team will adopt to synthesise the evidence and develop HIQA’s advice to NSAC.
Commenting on today’s protocol, HIQA’s Deputy CEO and Director of Health Technology Assessment, Dr Máirín Ryan, said:
“The National Newborn Bloodspot Screening Programme screens for rare but serious conditions in Ireland. As part of our assessment, we will review international guidelines on newborn screening for CAH, and evaluate its clinical effectiveness and safety alongside the budgetary and organisational considerations associated with its addition. This will help to inform a recommendation by the National Screening Advisory Committee to the Minister for Health.”
The National Newborn Bloodspot Screening Programme currently screens for nine rare but serious conditions, and has an uptake of 99.9%. Each year, the NNBSP identifies over 120 babies with one of the conditions included in the screening panel.
ENDS
Further information:
Caoimhe O’Connell, Communications Manager
caoconnell@hiqa.ie
Notes for Editor:
- HIQA has today published the following document:
- The aim of this HTA is to assess the evidence base for newborn blood screening for CAH.
- CAH is a group of autosomal recessive conditions caused by genetic mutations that disrupt enzymes involved in adrenal steroidogenesis. There are two main types of CAH, classic and non-classic. This HTA will focus on classic CAH.
- At the request of the Department of Health, the HTA Directorate within HIQA undertakes evidence synthesis and provides evidence-based advice to NSAC on behalf of the Minister for Health.
- HTA is a multidisciplinary process that summarises information about the medical, social, economic and ethical issues related to the use of a health technology in a systematic, transparent, unbiased and robust manner. HTAs are designed to inform safe and effective health policies that are both patient-focused and achieve the best value.
About HIQA
The Health Information and Quality Authority (HIQA) is the independent body that promotes safety and quality in the provision of health and social care services in Ireland.
Through its regulation, standard setting and evidence to inform decision-making functions, HIQA supports health and social care services to consistently deliver excellent standards of care and the best possible health and social care outcomes for all.