KARACHI: While national data on the prevalence of rare genetic illnesses does not exist, some of the disorders like beta thalassemia, congenital hypothyroidism and congenital adrenal hyperplasia are widely prevalent in the country.

Currently, less than one per cent of Pakistani newborns are being screened for preventable genetic diseases which can lead to lifelong disability and even mental retardation.

These points were raised during a two-day multi-disciplinary conference on ‘Newborns Screening for Rare Disorders in Pakistan’ which concluded at the Aga Khan University (AKU) on Saturday.

The event organised by AKU’s department of pathology and laboratory medicine in collaboration with three partners brought together genetic researchers, pathologists and child health specialists from across the country to launch an advocacy group, the Pakistan Inherited Metabolic Disease Network.

Highlighting the challenges with respect to rare genetic diseases, health experts pointed out that despite the fact that newborn screening was an integral part of public health and had underwent major revolutions, efforts to initiate a national-level newborn screening had remained in infancy and patchy and somewhat a neglected segment in Pakistan in public health initiatives.

“The primary reason is non-availability of diagnostic facilities, lack of expertise both in terms of human resource as well as equipment needed to perform the analysis,” Dr Ayesha Habib Khan, an associate professor heading chemical pathology section at AKU, said.

The equipment, she said, was not only technically demanding, but very expensive. In addition, knowledge on the performance and interpretation of second tier testing and confirmatory diagnosis were not completely available to date within Pakistan.

“The goal of this conference is to understand these issues and come up with concrete steps that can be implemented within tight time-frames after the conference. Such collaborations will also enable analysis of deeper questions such as the vulnerability of particular ethnicities to rare illnesses and lead to insights into whether unique genetic mutations exist in the region,” Dr Habib added.

Nationwide screening

Experts also discussed congenital hypothyroidism (CHT), a disease that limits the production of hormones by the thyroid gland, and said that newborn screen for that particular disease was mandatory in China, Europe, the US and Canada. However, only one private hospital and a single charity organisation in Pakistan offered the test.

The disease, it was said, had no visible symptoms, but could impair a child’s brain development as early as the two-week mark. Newborn health screening would have picked up the CHT at birth enabling the disease to be managed through a daily dose of a low cost generic tablet, they said.

Experts noted that even though a Karachi-based private hospital had the technology to test for the CHT and four other rare diseases (cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency and galactosemia), it was rare for babies to be screened at birth in Pakistan even though such screening had been common in the developed world for the past 50 years.

They called for nationwide screening needed to protect newborns from rare diseases as well as creating public awareness on cousin marriages, a major risk factor for inherited disorders.

Published in Dawn, March 4th, 2019