Page 63 - Read Online

Page 2 of 8 Malherbe et al. Rare Dis Orphan Drugs J 2024;3:24 https://dx.doi.org/10.20517/rdodj.2024.11

fostering multidisciplinary collaboration. There are opportunities to engage the public and emphasize the value of
NBS as a public health service that benefits everyone.

Keywords: Newborn screening, prevention, patient advocacy, rare diseases, newborn screening policy, newborn
screening ethics, bloodspot

INTRODUCTION
Newborn screening (NBS) Programs are public health initiatives designed to identify potential health
concerns in babies shortly after birth. Specifically, bloodspot NBS involves the systematic screening of
newborns for a range of inherited, genetic or congenital disorders that may not be apparent at birth but
could lead to serious and irreversible health complications, including premature death, if left undetected.
Timely screening and subsequent diagnosis of diseases enable healthcare professionals (HCP) to provide
immediate care and avert irreversible outcomes before symptoms manifest. However, unexpected diagnoses
from screening can significantly impact families, necessitating arrangements to support their well-being,
[1]
including psychological assistance . A diagnosis offers people with rare diseases and their families the
opportunity to connect with support groups, enroll in clinical trials, engage in proactive family planning,
and make financial and other life plans .
[2]

There are more than 6,000 known rare diseases to date, of which 70% result from genetic causes and 72%
have childhood onset . Rare diseases are a heterogeneous group of diseases with complex clinical
[3]
presentations, posing various challenges for patients, families, and society . The availability of scientific
[4]
knowledge and diagnostic technology for bloodspot NBS varies across countries . Currently, there is no
[5]
global consensus on specific diseases to be included in a national NBS program . Each country decides
[6-8]
which conditions are screened, considering international scientific recommendations and local contexts.

Patient organizations (POs) have been instrumental in enabling the implementation and introduction of
NBS since its inception by Dr. Robert Guthrie in the 1960s for Phenylketonuria (PKU). In this article, we
explore the role of six POs in promoting NBS and highlighting their advocacy efforts toward making NBS a
reality in their contexts.

PATIENT ORGANIZATIONS IN ACTION
This Perspective is primarily a collaboration between the international rare diseases research consortium
(IRDiRC) and the patient advocacy constituent committee (PACC). Organizational characteristics or other
characteristics are described including, such as their disease focus, national alliances, regional alliances, and
locations across different continents, are described.

Colombian federation of rare diseases
Colombia has made significant progress in the legislation for rare diseases. Newborn Screening Law was
approved in 2019, which aims to regulate diseases that impact quality of life, to prevent disease progression,
sequelae, and disability. Implementation has been limited since its approval. Currently, active NBS is
undertaken in Columbia for congenital hypothyroidism (CH), together with broader NBS for hearing,
vision, and congenital heart defects (CHD). Implementation of screening for additional diseases for NBS,
such as congenital adrenal hyperplasia (CAH), PKU, Galactosemia, cystic fibrosis (CF), and Biotinidase
Deficiency/Hemoglobin defects, is pending a resolution from the Ministry of Health in order to generate
guidelines for national implementation and earmarking of resources and reimbursement.